Articles de revues : « Congenital brain malformation »

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Dhande, Rajasbala Pradeep, Megha Manoj, Roohi Gupta, Prerna Patwa et Prasanthi Ghanta. « Congenital Arteriovenous Malformation of Lip - A Case Report ». Journal of Evolution of Medical and Dental Sciences 10, n^o 30 (26 juillet 2021) : 2354–57. http://dx.doi.org/10.14260/jemds/2021/482.

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Vascular anomalies are a heterogeneous group of lesions involving vascular channels including the lymphatics. They encompass a wide variety of lesions from simple capillary haemangiomas to angiosarcomas. These lesions most commonly occur as a result of developmental error during embryogenesis due to defective signal process.1 Most of these lesions occur sporadically while a few may be inherited or acquired. Inherited lesions tend to be small and multi-centric which gradually increase its size with age.2 The International Society for the Study of Vascular Anomalies has broadly classified vascular anomalies into 2 groups: 1) Vascular neoplasms and 2) Vascular malformations.3 Vascular malformations are a relatively rare group of lesions involving the endothelium and surrounding tissue of arteries and veins resulting in an abnormal arteriovenous shunting. They are categorised into 4 types: 1) Venous malformation, 2) Capillary malformation, 3) Arteriovenous malformation and 4) Lymphatic malformation. They can occur anywhere in the body from head to toe, but they are most commonly seen in the brain. The most common extra-cranial site for AV malformations is the head and neck and other common sites include limbs, trunk and viscera.4 Here, we a present a rare case of congenital AV malformation of lip in a 49-year-old male.

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Glauser, Tracy A., Lucy B. Rorke, Paul M. Weinberg et Robert R. Clancy. « Congenital Brain Anomalies Associated With the Hypoplastic Left Heart Syndrome ». Pediatrics 85, n^o 6 (1 juin 1990) : 984–90. http://dx.doi.org/10.1542/peds.85.6.984.

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This study details the type, frequency, and clinical presentation of developmental brain anomalies in 41 infants with the hypoplastic left heart syndrome encountered during a 52-month interval. Overall, 29% of the infants had either a major or minor central nervous system abnormality. Overt central nervous system malformations, including 3 cases of agenesis of the corpus callosum and 1 case of holoprosencephaly, were seen in 4 infants (10%). Micrencephaly (brain weight at autopsy more than 2 SDs below the mean for age) was found in 27% of the infants. An immature cortical mantle was seen in 21% of the study group. Seven infants (17%) had specific recognizable patterns of malformation. The absence of dysmorphic physical features did not preclude overt or subtle central nervous system malformations. Conversely, the presence of dysmorphic features did not reliably indicate an underlying brain anomaly. Infants who had hypoplastic left heart syndrome as one of multiple nonneurologic malformations were more likely to have micrencephaly than those infants with hypoplastic left heart syndrome as an isolated abnormality. Occurrence of developmental neuropathology was elevated in those infants with hypoplastic left heart syndrome who did not have a recognizable pattern of malformation but who were small for gestational age, microcephalic, or had ocular abnormalities. Infants with hypoplastic left heart syndrome deserve careful genetic, ophthalmologic, and neurologic evaluations, imaging of their intracranial anatomy, and long-term neurologic follow-up.

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Segal, Devorah, Robert F. Heary, Sanjeev Sabharwal, Maureen T. Barry et Xue Ming. « Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome ». Journal of Neurosurgery : Pediatrics 18, n^o 1 (juillet 2016) : 79–82. http://dx.doi.org/10.3171/2016.1.peds15482.

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The authors present the case of a child with megalencephaly-capillary malformation syndrome who developed a rapidly progressive holocord syringomyelia that was treated surgically. A 3-year-old boy with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased seizures. An MRI study of the brain demonstrated a Chiari I malformation and massively dilated syringomyelia extending from C-2 to the conus medullaris. The patient underwent an urgent suboccipital craniectomy with C1–3 laminectomies to relieve the CSF outflow obstruction with significant clinical improvement. Surgery was complicated by bleeding from intracranial vascular malformations. This report describes a very rapidly developing, massive holocord syringomyelia related to CSF obstruction due to an unusual congenital brain malformation and associated vascular overgrowth at the site. Serial, premorbid MRI studies demonstrated the very rapid progression from no Chiari malformation, to progressively greater cerebellar tonsillar herniation, to holocord syrinx. This complication has never been reported in MCAP syndrome and should be considered in any affected MCAP patient with a progressive neurological decline, even if previous spine imaging findings were normal. Surgical complications due to hemorrhage also need to be considered in this vascular brain malformation.

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Lagunavichene, M. L., S. N. Larionov, Yu A. Alexandrov, A. V. Livadarov, P. G. Gruzin et G. S. Zhdanovich. « Spontaneous obliteration of congenital arteriovenous malformation of the brain in childhood ». Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, n^o 3 (8 juillet 2020) : 126–30. http://dx.doi.org/10.21508/1027-4065-2020-65-3-126-130.

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Objective: to present a clinical case of spontaneous obliteration of congenital arteriovenous malformation of the brain in a 4-year-old child. Neurosonography revealed arteriovenous malformation in a 1-month-old girl; the diagnosis was confirmed by magnetic resonance imaging and multispiral computed tomography of the brain. The child did not receive surgical and drug treatment. Dynamic observation showed a decrease of malformation, and a control examination (age: 4 years) revealed a focus of gliosis, which indicated a complete spontaneous regression of arteriovenous malformation. The authors discuss diagnostic features, tactics of conservative and surgical treatment of children with arteriovenous malformation.

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Jayakody, Himali, Sanam Zarei, Huy Nguyen, Joline Dalton, Kelly Chen, Louanne Hudgins, John Day et al. « Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A) ». Journal of Neuropathology & ; Experimental Neurology 79, n^o 9 (22 août 2020) : 998–1010. http://dx.doi.org/10.1093/jnen/nlaa062.

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Abstract Congenital muscular dystrophy type 1A (MDC1A) is caused by recessive variants in laminin α2 (LAMA2). Patients have been found to have white matter signal abnormalities on magnetic resonance imaging (MRI) but rarely structural brain abnormalities. We describe the autopsy neuropathology in a 17-year-old with white matter signal abnormalities on brain MRI. Dystrophic pathology was observed in skeletal muscle, and the sural nerve manifested a mild degree of segmental demyelination and remyelination. A diffuse, bilateral cobblestone appearance, and numerous points of fusion between adjacent gyri were apparent on gross examination of the cerebrum. Brain histopathology included focal disruptions of the glia limitans associated with abnormal cerebral cortical lamination or arrested cerebellar granule cell migration. Subcortical nodular heterotopia was present within the cerebellar hemispheres. Sampling of the centrum semiovale revealed no light microscopic evidence of leukoencephalopathy. Three additional MDC1A patients were diagnosed with cobblestone malformation on brain MRI. Unlike the autopsied patient whose brain had a symmetric distribution of cobblestone pathology, the latter patients had asymmetric involvement, most severe in the occipital lobes. These cases demonstrate that cobblestone malformation may be an important manifestation of the brain pathology in MDC1A and can be present even when patients have a structurally normal brain MRI.

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Hmilevskaya, Svetlana A., Galina N. Masljakowa, Nikolai I. Zryachkin, Olga A. Makarowa, Mikhail M. Bazalitsky et Tatiana V. Elizarova. « Angiodysplasia Combined with Thymic Aplasia in an Infant : A Rare Clinical Case ». Current pediatrics 17, n^o 4 (5 octobre 2018) : 333–40. http://dx.doi.org/10.15690/vsp.v17i4.1928.

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Background. The prevalence of congenital malformations of the vessels or angiodysplasia ranges from 1:50,000 to 1:5,000,000. Congenital angiodysplasia is a consequence of impaired formation and development of the vascular system in embryogenesis. The aetiology of angiodysplasia remains poorly studied, and the diagnosis involves significant difficulties in some cases. Clinical Case Description. The observation of a rare case of a combined malformation of vessels and thymic aplasia in a female infant is presented. Angiodysplasia included the syndrome of congenital generalised phlebectasia (synonym: congenital telangiectatic marbled skin) combined with multiple vascular malformations with predominant vascular lesions of the brain, lungs, heart, kidneys, and mesentery. Clinically, the disease was characterised by a generalised change in the skin in the form of livedo reticularis accompanied by the development of severe pneumonia, persistent urinary syndrome, neurological symptoms (convulsive seizures, motor disorders), and progressive heart failure. The diagnosis was confirmed in the course of a pathological study. Conclusion. The presented case allows expanding the notion of the variety of clinical manifestations of congenital angiodysplasia, as well as its possible combinations with other malformations.

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Begum, Most Umme Habiba, et Md Anisur Rahman. « Dandy –Walker Malformation with Patent Ductus Arteriosus– A Case Report ». Journal of Bangladesh College of Physicians and Surgeons 36, n^o 3 (17 juin 2018) : 128–31. http://dx.doi.org/10.3329/jbcps.v36i3.37038.

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Dandy–Walker malformation (DWM) is a group of congenital human brain malformation with specific characteristics. It may be associated with a number of other organ malformation including heart, eye, and thyroid glands. In our case, DWM was associated with heart malformation in the form of patent ductus arteriosus (PDA) and was complicated by atrial fibrillation. The case was established by computed tomography of brain, echocardiography and electrocardiography. The patient was asymptomatic until 7 years of age.J Bangladesh Coll Phys Surg 2018; 36(3): 128-131

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Yang, Xiang, Xiaolin Ai, Seidu A. Richard et Jianguo Xu. « A Silent Congenital Ethmoidal Encephalocele Progressing into Frontoethmoidal Meningoencephalocele with Episodic Seizures in Adulthood : A Case Report and Literature Review ». Advances in Bioscience and Clinical Medicine 6, n^o 3 (31 juillet 2018) : 20. http://dx.doi.org/10.7575/aiac.abcmed.v.6n.3p.20.

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Background: Frontoethmoidal meningoencephalocele (FEM) is rare congenital malformations that has specific geographic distribution. This condition is depicted with herniation of brain tissue as well as meninges via a defect in the cranium at the frontal, orbital, nasal as well as ethmoidal regions. Although several cases have been reported, none of them have a silent and progressive nature with episodic seizures. Case Presentation: We present a 20-year-old man with a swelling on the nasal bridge which was notice a few years after birth. The swelling initially progressed slowly without any symptoms from childhood through adolescents. Both CT scan and MRI revealed a defect in cranium at the frontal and ethmoidal regions with herniation of meninges and brain matter into the nasal cavity but no fistula. We successfully reduced the encephalocele as well as watertight closed the dura mater. The skull defect repaired, and left orbital defect also reconstructed via surgery. Conclusions: Aflatoxins, generated by one genus of a defective fungi, aspergillus could be responsible for the development of this malformation. We suggest that pregnant women in areas with high incidence of the malformation be screen thorough with ultrasound scan to detect the malformation earlier. We also suggest that further studies on the malformation be geared toward using 3D ultrasound to study the pathophysiology of this malformation.

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Gawrych, Elżbieta, Joanna Janiszewska-Olszowska, Anna Walecka, Maria Syryńska et Hanna Chojnacka. « Lobar Holoprosencephaly with a Median Cleft : Case Report ». Cleft Palate-Craniofacial Journal 46, n^o 5 (septembre 2009) : 549–54. http://dx.doi.org/10.1597/08-059.1.

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Holoprosencephaly is a congenital abnormality of the prosencephalon associated with median facial defects. Its frequency is 1 in 250 pregnancies and 1 in 16,000 live births. The degree of facial deformity usually correlates with the severity of brain malformation. Early mortality is prevalent in severe forms. This report presents a child with lobar holoprosencephaly accompanied by median cleft lip and palate. The treatment and 9 months’ follow-up are presented. This unique case shows that holoprosencephaly may present different manifestations of craniofacial malformations, which are not always parallel to the severity of brain abnormalities. Patients with mild to moderate brain abnormalities may survive into childhood and beyond.

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Patil, Nanda, Vaidehi Nagar et Chirag Sharma. « Exencephaly with Cystic Adenomatoid Malformation- A Review of a Rare Case ». Galore International Journal of Health Sciences and Research 6, n^o 2 (15 juin 2021) : 45–47. http://dx.doi.org/10.52403/gijhsr.20210406.

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Exencephaly is a rare malformation of the cranium which is characterized by absence of skull, cranium cavity and a scalp with protruding brain tissue outside the skull. The prognosis for infants born with this malformation is extremely poor. Exencephaly has been associated with several other congenital anomalies. We present a case of exencephaly associated with cystic adenomatoid malformation in autopsy findings in a17weeks female abortus. Keywords: Exencephaly, acrania, cystic adenomatoid malformation.

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Yokoyama, Kazutoshi, Yoshitaka Asano, Takatsugu Murakawa, Mitsuaki Takada, Takashi Ando, Noboru Sakai, Hiromu Yamada et Hitoshi Iwata. « Familial occurrence of arteriovenous malformation of the brain ». Journal of Neurosurgery 74, n^o 4 (avril 1991) : 585–89. http://dx.doi.org/10.3171/jns.1991.74.4.0585.

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✓ Brain arteriovenous malformations are considered to originate from a congenital maldevelopment of the brain vessels. Although there have been occasional reports suggesting a familial incidence of these lesions, data for only 10 families have been accumulated in the literature. The authors report on six such cases in three families. This high rate of occurrence of familial cases suggests an involvement of genetic factors.

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Adama, Dembélé, Ouédraogo Issa, Kiemtoré Sibraogo Sibraogo et Bambara Moussa. « Congenital cystic adenomatoid malformation, antenatal diagnosis : about one case ». International Journal of Reproduction, Contraception, Obstetrics and Gynecology 8, n^o 7 (29 juin 2019) : 2901. http://dx.doi.org/10.18203/2320-1770.ijrcog20193065.

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Antenatal ultrasound screening of fetal malformations requires for management, the immediate nature of which at certain birth, conditions the survival of the newborn. The Objectives Describe a case of pulmonary cystic adenomatoid malformation discover during antenatal ultrasonography. It was a 36 years old primary patient, referred to the maternity of Lafontaine hospital (France) for the presence, on obstetrical ultrasound screening, of suspected lesions on the foetal right lung’s field in a 21 weeks gestation pregnancy. After successive obstetric ultrasound scan, it was discovered that the left lungs were big with some parenchymal cysts of different sizes more than 3 mm in diameter. We made a diagnosis of type I left pulmonary cyst adenoma with excess amniotic fluid, without associated anomalies. The pregnancy progressed to 40 weeks gestation and a caesarean section was done with extraction of a live female new born weighing 2730 gr. The new born had 40 days later a successful surgical lobectomy for a cystic adenomatoid dysplasia. Histological examination revealed type I Stocker congenital pulmonary cystic adenomatoid malformation. During obstetrical ultrasound screening, we paid more attention to the brain, the heart, the face. Through this study we realised that during routine antenatal ultrasound for morphology, we should also pay more attention to the lungs.

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Devkota, Karun, Kapil Adhikari, Sapana Koirala et Ashok Chapagain. « Sturge Weber Syndrome With Posterior Fossa Involvement : A Rare Case ». Medical Journal of Pokhara Academy of Health Sciences 3, n^o 2 (31 décembre 2020) : 305–7. http://dx.doi.org/10.3126/mjpahs.v3i2.35617.

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Sturge-Weber syndrome (SWS) is a rare congenital vascular disorder characterized by facial capillary malformation, associated capillary-venous malformations affecting the brain and eye along with calcification in the occipital or frontoparietal region. Occipital and posterior parietal lobes are the common site of involvement in SWS. Posterior fossa involvement is a rare finding with very few number of reported cases. Contrast enhanced MRI is considered as the gold standard for the diagnosis of SWS demonstrating the enhancement of pial angioma

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Araujo, Kaisa Freitas de, Vagno da Silva Miler, Kétury Silva dos Passos, Junior Henrique da Silva Moreira, Taisa Fernanda Conceição dos Santos et Sandro de Vargas Schons. « Incomplete diprosopia with ventral cerebellum inversion in one bovine calf ». Research, Society and Development 9, n^o 9 (30 août 2020) : e577997615. http://dx.doi.org/10.33448/rsd-v9i9.7615.

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The objective of this case report is to relate a malformation in a newborn male girolando breed bovine calf. The bovine presented craniofacial duplication and was sent to the Animal Diagnosis Center (CDA) at the Federal University of Rondônia (UNIR). The descriptive study of the main anatomical changes observed during the desiccation of the facial muscles and removal of the brain was performed. The anatomical parts were exposed on a board for photo documentation and description of the malformations. The diagnosis of incomplete diprosopia was made by observing the congenital lesions on the face and brain characterized through the craniofacial junction without total head separation; the animal presented triophthalmia, duplication of nasal and oral structures with lateral deviance of the right jaw side. The animal’s cerebellum was found in the opposite position and was united with the two brains through the cerebral peduncles in a caudal cranial orientation. In this case report, it was not possible to determine the malformation etiology, however, it emphasizes the importance of diprosopia in bovine and it suggests the need of further studies about the mechanism that produce cranial alterations.

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Gaffney, Rachel E., et Kelsy L. Fisher. « Dandy-Walker Malformation With Concomitant Agenesis of the Corpus Callosum as Investigated by Neonatal Sonography ». Journal of Diagnostic Medical Sonography 33, n^o 4 (14 mars 2017) : 318–23. http://dx.doi.org/10.1177/8756479317697276.

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Dandy-Walker malformation and agenesis of the corpus callosum, although uncommon among all births, are commonly seen in association with one another due to the malformations’ effects on the central nervous system. Obstetric sonographers are likely familiar with the typical appearance of these abnormalities in utero, as sonography is routinely used to detect such congenital anomalies prenatally. However, sonography also plays a valuable role in the postnatal follow-up evaluation of the brain and other body systems affected by Dandy-Walker malformation and its associated abnormalities, thus making it imperative for all sonographers to be familiar with their postnatal sonographic appearance. The case presented demonstrates the use of neonatal sonography to evaluate and follow a case of Dandy-Walker malformation with associated agenesis of the corpus callosum that was originally diagnosed by prenatal sonography. The purpose of this case study is to highlight the pathologies and their coexistence, demonstrate their neonatal sonographic characteristics, exhibit corresponding magnetic resonance imaging appearance, and provide guidance for future patient cases.

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Polizzi, Agata, Stefania Salafia, Elena Praticò, Maria Garozzo, Federica Sullo, Stefano Catanzaro, Giuseppe Belfiore et al. « Megalencephaly Capillary Malformation Syndrome ». Journal of Pediatric Neurology 16, n^o 05 (20 août 2018) : 328–37. http://dx.doi.org/10.1055/s-0038-1667010.

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AbstractMegalencephaly capillary malformation polymicrogyria (MCAP) syndrome is characterized by the sporadic occurrence of congenital and progressive megalencephaly, brain malformations including polymicrogyria, pre- and postnatal overgrowth with body asymmetry, cutaneous vascular malformations (including capillary malformation and cutis marmorata), digital anomalies connective tissue dysplasia (including skin and joint laxity), and developmental delay. In the past 10 years, the specific cause of the disease has been found in gain-of-function mutations of PIK3CA gene, mostly somatic/postzygotic but in rare cases also de novo germline. Such gene encodes for PI3K, a critical member of the PI3K-AKT-mTOR pathway: genetic changes lead to an over-activation of this signaling system, with increased vascular, limb, and brain cell development, progression, and survival. Interestingly, mutations in the same gene can cause other clinically heterogeneous syndromes, including CLOVE syndrome, macrodactyly, focal adipose overgrowth, epidermal nevi, facial infiltrating lipomatosis: all these syndromes (even if heterogeneous) are now considered a unique spectrum, known as PIK3CA-related overgrowth syndrome. On the contrary, a disease strictly similar to MCAP, characterized by megalencephaly, polymicrogyria, polydactyly, and hydrocephalus has been found to be caused by mutations in two other PI3K-AKT-mTOR-releted genes, AKT3 and PIK3R2, and for this reason is not included in the upper mentioned group of syndromes. With the exception of neurosurgery strategies for hydrocephalus and posterior fossa overcrowding, therapeutic options are nowadays limited, even if gene-targeted treatment protocols have been proposed and protocols with such agents (i.e., Arq092) are currently ongoing in small groups of patients with promising results.

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Uggetti, C., E. Fazzi, S. Signorini, M. G. Egitto, A. Pichiecchio, F. Zappoli et G. Lanzi. « Studio RM dell'encefalo di trentacinque bambini affetti da amaurosi congenita di Leber ». Rivista di Neuroradiologia 16, n^o 3 (juin 2003) : 481–83. http://dx.doi.org/10.1177/197140090301600328.

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There are few literature reports of MR study in children with Leber's congenital amaurosis, a severe early onset autosomal recessive retinal dystrophy. We describe the clinical and neuroradiological findings in 35 patients. Of these, 22 had a normal brain MR scan, four showed mild dilatation of the cortical sulci, two had mild optic-chiasmatic thinning, three showed aspecific white matter changes not involving the primary visual pathway and four had “molar tooth” mesencephalic malformation. Our series confirms literature findings of normal signal and morphology of the primary optic pathway. Posterior cranial fossa abnormalities, defined as rhombencephaloschisis, was associated with a clinical picture different from that of the other patients. This abnormality is encountered in different malformations associating cerebellar, ocular and renal abnormalities. MR brain study in children with Leber's congenital amaurosis is recommended not only to assess the visual pathways, but also to analyse the posterior cranial fossa and cerebellum.

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Chitsazi, Mohammad Taghi, Adileh Shirmohammadi, Nasrin Rahmanpour et Monir Moradzadeh Khiyavi. « Periodontal Manifestations and Unusual Radiographic Features in a Patient with Sturge-Weber Syndrome : A Case Report ». Journal of Periodontology & ; Implant Dentistry 6, n^o 1 (1 octobre 2018) : 28–34. http://dx.doi.org/10.15171/jpid.2014.006.

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The Sturge-Weber syndrome or encephalotrigeminal angiomatosis is a rare neurological and congenital disorder with a frequency of 1 in 50,000 births. This syndrome is a nonhereditary developmental condition and is characterized by the presence of congenital capillary malformation and a hamartomatous vascular proliferation involving the face (port-wine stain or facial birthmark), sometimes skull and the tissues of brain, jaws, oral soft and hard tissues and rarely other body organs. Seizures, mental retardation, and cortical calcification (tram-tracks) and congenital glaucoma may be seen in this syndrome. We report here a 40-year-old female with Sturge-Weber syndrome associated with bilateral cutaneous capillary malformation on her face, neck, hands and feet and also gingival enlargement.

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Tascu, A., C. Pascal, S. M. Florea et St M. Iencean. « Spontaneous intracranial hemorrhage in children – ruptured lobar arteriovenous malformations : report of two cases ». Romanian Neurosurgery 22, n^o 1 (1 mars 2015) : 86–93. http://dx.doi.org/10.1515/romneu-2015-0010.

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Abstract Brain arteriovenous malformations (AVMs) are lesions thought to be primarily congenital in origin, consisting of fistulous connections of abnormal arteries and veins, without normal intervening capillary beds and no cerebral parenchyma between vessels. In the pediatric population, AVMs represent the most common cause of spontaneous intracranial hemorrhage (ICH), with a high recurrent bleeding risk. The aim of this paper is to report 2 cases of ruptured lobar AVMs in children, presenting with spontaneous ICH. Due to the patients’ neurological status, the only imaging examination performed preoperatively was a CT scan, showing intraparenchymal hemorrhage. Thus, there was no MRI/angiographic examination to prove the existence of a brain AVM prior to the surgical interventions. Also, the cerebral angiography performed after the surgery showed, in both patients, no signs of residual vascular malformations. Therefore, the diagnosis of AVM was certified by macroscopic and microscopic pathological findings, with no brain imaging suggestive of a vascular malformation.

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Bičkutė, Irena, et Mindaugas Avižonis. « Galvos smegenų arterioveninės malformacijos ». Lietuvos chirurgija 7, n^o 3-4 (1 janvier 2009) : 0. http://dx.doi.org/10.15388/lietchirur.2009.3.2133.

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Irena Bičkutė1, Mindaugas Avižonis21 Švenčionių rajono ligoninė, Partizanų g. 4, LT-18126 Švenčionys2 Mykolo Marcinkevičiaus ligoninė, Kauno g. 7/2, LT-03215 VilniusEl paštas: ibickute@gmail.com Galvos smegenų arterioveninė malformacija (AVM) – įgimta smegenų patologija, kuriai būdingos patologinės arterijų ir venų jungtys, kuriomis arterinis kraujas patenka į smegenų venas, aplenkdamas normalų kapiliarų tinklą. Ši patologija reta, tačiau sukelia daug anatominių ir fiziologinių pokyčių, kelia pavojų gyvybei. Straipsnyje trumpai aprašoma AVM paplitimas, kilmė, patologija, klinika, diagnostika ir gydymas. Reikšminiai žodžiai: galvos smegenų arterioveninė malformacija, etiologija, epidemiologija, klinika, diagnostika, gydymas. Arteriovenous malformations of the brain Irena Bičkutė1, Mindaugas Avižonis21 The Švenčioniai Regional Hospital, Partizanų g. 4, LT-18126 Švenčionys, Lithuania2 The Mykolas Marcinkevičius Hospital, Kauno str. 7/2, LT-03215 Vilnius, LithuaniaE-mail: ibickute@gmail.com Arteriovenous malformation (AVM) of the brain is a congenital vascular disease and has three morphologic components: the dysplastic vascular nidus, the feeding arteries, and the draining veins. The underlying lesion appears to represent a perpetuation of primitive arteriovenous communications which normally should be replaced by an intervening capillary network. AVM is potentially life-threatening and causes many anatomical and physiological changes. This article contains a description of epidemiology, etiology, pathology, clinic, diagnostics and treatment of brain AVM. Key words: arteriovenous malformation of the brain, etiology, epidemiology, clinic, diagnostics, treatment

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Shimizu, Yu, Katsuhiro Tsuchiya et Hironori Fujisawa. « Transient ischemic attack in elderly patient with PHACE syndrome ». Surgical Neurology International 10 (27 septembre 2019) : 188. http://dx.doi.org/10.25259/sni_187_2019.

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Background: Posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) is a rare congenital anomaly with a broad spectrum of clinical manifestations. Case Description: We describe a 75-year-old male with PHACE anomaly, aortic anomaly, malformation of brain, aplastic right carotid artery, and cervical vasculopathy. He presented with a transient ischemic attack with the left hemiparesis, a rare clinical presentation of the PHACE syndrome. He had an uneventful recovery and recently completed a 2-year follow-up after the superficial temporal artery to middle cerebral artery anastomosis. Conclusion: PHACE syndrome should be kept in mind, even in individuals of advanced age, in the instance of a TIA, especially in situations which may involve induced hypoperfusion.

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Heuer, Gregory G., Douglas A. Hardesty, Kareem A. Zaghloul, Erin M. Simon Schwartz, A. Reghan Foley et Phillip B. Storm. « Anatomic hemispherectomy for intractable epilepsy in a patient with unilateral schizencephaly ». Journal of Neurosurgery : Pediatrics 2, n^o 2 (août 2008) : 146–49. http://dx.doi.org/10.3171/ped/2008/2/8/146.

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Schizencephaly is a rare congenital cortical brain malformation defined by unilateral or bilateral clefts of the cerebral hemispheres. These malformations are often associated with medically intractable epilepsy. Surgical solutions include lesionectomy, lobectomy, or hemispherectomy. The authors describe the case of an anatomic hemispherectomy for medically intractable epilepsy in an 8-year-old boy with a large schizencephalic cleft. Seven years prior to his epilepsy surgery, the patient underwent placement of a ventriculoperitoneal shunt for communicating hydrocephalus that resulted in severe left-to-right shift. Subsequently, medically refractory epilepsy developed and the patient underwent an anatomic hemispherectomy for seizure control. The preoperative brain shift remained after the surgery, although the patient tolerated the procedure well and was seizure free postoperatively. Anatomic hemispherectomy is a viable option for treating medically intractable epilepsy in a schizencephalic pediatric patient—even one with considerable brain shift.

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Patanè, Federico Giuseppe, Massimiliano Esposito, Andrea Giovanni Musumeci, Monica Palermo, Marco Torrisi, Monica Salerno et Angelo Montana. « Multidisciplinary Approach to Suspected Sudden Death Caused by Arteriovenous Malformation Rupture : A Case Report ». Medicina 57, n^o 7 (23 juin 2021) : 644. http://dx.doi.org/10.3390/medicina57070644.

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Arteriovenous malformations (AVMs) are rare congenital conditions with a prevalence of less than 1% and are mostly asymptomatic. However, these malformations can suddenly cause intense pain or bleeding, leading to life-threatening medical problems. This report presents a case of an unexpected death in a 37-year-old previously healthy woman due to an intra-cerebellum arteriovenous malformation rupture identified during autopsy. While infective processes where preliminarily excluded, a Post Mortem Computed Tomography (PMCT) identified a tetra ventricular hemorrhage and intra-cerebellum hemorrhage. Toxicological examination was negative for most substances of abuse. During autopsy an intense hemorrhagic infiltrate in the subarachnoid space was observed. After formalin fixation of the brain the cerebellum showed hemorrhagic infarction on fourth ventricle sides, as well as several small reddish infarctions across the entire cerebellum parenchyma. Histological examination of the brain and cerebellum showed a suffusion of erythrocytes in the sub-arachnoid region. Evidence of an arterio-venous malformation, with several intertwine vessels of variable diameter, surrounded by hemorrhagic evidence. The autopsy played a crucial role in identifying the location and the possibly affected vessel, as well as defining the cause of death. It is necessary to have a greater number of autopsies to make an epidemiological contribution. Furthermore, it is crucial to create a multicenter data network with other authors from other departments to improve information about epidemiological, clinical, diagnostic and therapeutic data. Most brain AVMs as cause of death are often undiscovered.

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Rugina, Aniela Luminita, Violeta Streanga, Nicolai Nistor, Gabriela Buhusi, Ramona Filipescu et Irina-Mihaela Ciomaga. « Ischemic stroke in a child with complex cyanotic congenital heart disease ». Romanian Journal of Pediatrics 63, n^o 3 (30 septembre 2014) : 288–91. http://dx.doi.org/10.37897/rjp.2014.3.13.

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Stroke is rare in children compared to adults. Most common causes of stroke in children are heart diseases that cause embolism and cerebral infarction and arteriovenous malformations for the brain hemorrhages, but a number of cases remain idiopathic, without being able to say precise etiology. The authors present the case of a child diagnosed in infancy with complex cyanotic heart malformation, but not operated, admitted with clinical and radiological signs of pneumonia, which evolved favorably with antibiotic and symptomatic therapy. During resolution of the pneumonia, the child becomes suddenly drowsy, presenting right hemiplegia, with absence of reflexes on the same side. Clinical examination correlated with cranio-cerebral CT have established the diagnosis of bilateral Sylvian ischemic stroke. The evolution was favorable under conservative treatment (antiplatelet drugs, physiotherapy), but right hemiplegia persisted.

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Socha, PA, et BM Socha. « Congenital hydrocephalus in a Maine Coon foetus detected using ultrasound during pregnancy ». Veterinární Medicína 66, No. 10 (8 septembre 2021) : 456–60. http://dx.doi.org/10.17221/204/2020-vetmed.

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A congenital defect that blocks the cerebrospinal fluid outflow is the most common cause of hydrocephalus in young cats. It usually manifests itself within a few weeks of birth. Diagnostic imaging is essential. Therefore, it was decided to report on, for the first time, a clinical case of congenital hydrocephalus in a Maine Coon foetus detected using ultrasound during pregnancy. A difference between the size of the skull bones in the Maine Coon foetuses was recognised during a routine pregnancy ultrasound. Analysis of the sonogram of the bones and brain structures of the diagnosed foetus revealed that the features were highly suggestive of a hydrocephalus. Five clinically healthy kittens and one with hydrocephalus were delivered without complications. The necropsy of the malformed foetus was consistent with the ultrasonographic findings. Bacteriological and virological tests were performed and all were negative which suggest a congenital background of the malformation. This is the first reported case of an intrauterine ultrasound diagnosis of congenital hydrocephalus in a Maine Coon of multiple gestation. The ultrasound control along with the foetometry seem to be useful tools to recognise certain pathologies of pregnancy in cats, including congenital malformations of various origins, which is of significant diagnostic and prognostic importance.

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Sanjaya, I. Nyoman Hariyasa, Cokorda Istri Mirayani Pemayun, Ni Komang Anik Pirgantari, Made Diah Vendita Sakuntari, Ni Wayan Dewi Purwanti, NI Putu Nining Gianni, Ni Luh Made Diah Mas Cahyani Putri et al. « Early detection of Fetal Acrania on first-trimester sonography : a case report ». Indonesian Journal of Perinatology 2, n^o 1 (26 février 2021) : 6–8. http://dx.doi.org/10.51559/inajperinatol.v2i1.8.

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Introduction. Fetal Acrania is a rare fetal malformation characterized by the complete or partial absence of a skull covering the fetal brain. In the absence of a hard covering of the soft brain tissue, Acrania is known as a universally lethal malformation. Here we present a Fetal Acrania case detected by sonographic examination at our Center. Case Description. A 36 years old female was referred to the obstetric department to undergo an in-depth sonographic evaluation as a previous examination reveals a potential congenital fetal anomaly. Our sonographic evaluation revealed a singleton, live fetus, 12 weeks gestational age in cephalic presentation and longitudinal lie. One obvious malformation was a well-formed fetal brain without the surrounding cranium (Acrania). The absence of cranium was the main and only malformation. The absence of cranium was evident as the fetal brain was easily compressed on probe pressure, and the brain appeared like floating in the amniotic fluid over the base of the skull. Therapeutic abortion was carried out. The termination was conducted by administering four tablets of 200 mcg misoprostol sublingually and repeated 24 hours later. No adverse reaction or complication on termination. The aborted fetal examination confirmed the lack of fetal cranium. Conclusion. Although seemingly obvious, the first-trimester diagnosis of fetal Acrania must be made with caution as the fetal cranium is not fully calcified before 10- 11 weeks. As Acrania is a universally lethal malformation, therapeutic abortion is indicated.

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Mamonov, N. A., L. V. Rozhchenko, S. A. Goroshchenko et K. A. Samochernykh. « Analysis of the type of course of arteriovenous malformations of the brain on the basis of the evaluation of the personalized features of angioarchitectonics of venous drainages ». Russian Journal for Personalized Medicine 2, n^o 5 (28 novembre 2022) : 16–24. http://dx.doi.org/10.18705/2782-3806-2022-2-5-16-24.

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Background. Arteriovenous malformations of the brain are a rare congenital vascular pathology. At the moment, the study of the venous component of arteriovenous malformations is a hot topic of many studies. Most authors believe that the angioarchitectural features of the venous link of arteriovenous malformations can have a significant impact on assessing the natural course of the pathology and determining the tactics of treating these patients. Objective. In our work, we conducted a assessment and compared the personalized features of venous drainage of arteriovenous malformations of the brain with the type of clinical course. Design and methods. We analyzed the results of a survey of 61 adult patients with arteriovenous malformations of the brain, observed in the neurosurgical department No. 3 of the RNSI n. a. prof. A. L. Polenov in the period from 2014 to 2021. Gender and age characteristics and neuroimaging data, as well as features of the venous outflow of arteriovenous malformations were analyzed. Groups of patients were composed according to the type of the course of the disease and a personalized analysis was carried out with the characteristics of the venous outflow, as well as their features. The male/female ratio was 1.5/1 (37/24). Patients under 45 years of age prevailed (77.1 %). By types of clinical course: hemorrhagic type — 18 cases (29.5 %); epileptic type — 24 patients (39.3 %); torpid type — 19 patients (31.2 %). Results. A correlation was found between the deep location of the body of the malformation, as well as drainage exclusively into the deep vein system, and the hemorrhagic type of course (p = 0.034), while the male gender and superficial localization of the malformation were more characteristic of the epileptic type (p = 0.01). The torpid flow type did not have significant relationships with the studied features. Conclusion. According to our data, an analysis of the personalized characteristics of venous drainage of cerebral arteriovenous malformations can help in assessing the clinical course, which will improve the treatment outcomes of these patients.

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Safonenko, Alexandra, Elena Ioyleva, Evgeniya Kabanova et Tatiana Seregina. « COMBINATION OF PATHOLOGY OF THE BRAIN AND THE OPTIC NERVE ». MNJ (Malang Neurology Journal) 8, n^o 2 (1 juillet 2022) : 144–46. http://dx.doi.org/10.21776/ub.mnj.2022.008.02.14.

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The relevance of assessing the lesion of the visual analyzer with optic disc drusen and the possibility of identifying concomitant pathologies, increases with the introduction of the latest diagnostic techniques.In the S. Fyodorov Eye Microsurgery Federal State Institution, Moscow, a patient, 50 years old, complaining of episodic blurred vision. The diagnosis revealed the drusen of the optic nerve head and concomitant congenital neurological pathology. The patient was consulted by a neurosurgeon with the aim of delivering a diagnosis and determining treatment tactics. The diagnosis was made: Arteriovenous malformation of the deep arteries of the sections of the left parietal lobe. After assessing the size of the arteriovenous malformation, its location in the functionally important area of the brain, it was decided to follow up the patient in dynamics

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Radulescu, Luminita, Alexandra Martu, Oana Astefanei, Sebastian Cozma et Cristian Martu. « Wildervanck syndrome : Case report ». Romanian Journal of Rhinology 13, n^o 49 (18 février 2023) : 44–47. http://dx.doi.org/10.2478/rjr-2023-0007.

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Abstract BACKGROUND. Wildervanck syndrome was described for the first time in 1952. This rare entity is composed by the oculo-cervico-acoustic triad, which may be more or less complete. MATERIAL AND METHODS. We present a 5-year-old girl diagnosed with Wildervanck syndrome, exhibiting: Klippel-Feil anomaly (fused cervical vertebrae), Duane Stilling Turk syndrome (bilateral abducens palsy) and congenital bilateral cophosis indicated by ABR. RESULTS. The CT scan revealed major malformations of the brain and calvarium including the petrous part of both temporal bones. Despite all these brain malformations, the psychological development of the child was nearly normal. As it was previously reported in other cases, the child also presented spina bifida cervicalis and cleft palate. The cause of deafness was bilateral lack of cochleae, making impossible the insertion of the cochlear electrode for hearing rehabilitation. When the patients are discovered late (after 3 years of age), the management of hearing loss is by being taught sign language and lip reading. CONCLUSION. Any cranio-facial malformation and any delay in speech production impose early attention of the otorhinolaryngologist or audiologist for timely diagnosis and rehabilitation of hearing loss. The imaging examination, especially the high-resolution temporal bone CT-scan, is of paramount importance to be performed in all profound congenital deaf children to evaluate the candidacy to cochlear implantation.

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Desai, Ketan, Rajendra Bhayani, Trimurti Nadkarni, Uday Limaye et Atul Goel. « Developmental Deep Venous System Anomaly Associated with Congenital Malformation of the Brain ». Pediatric Neurosurgery 36, n^o 1 (2002) : 37–39. http://dx.doi.org/10.1159/000048347.

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Iaria, Giuseppe, Chiara Incoccia, Laura Piccardi, Daniele Nico, Umberto Sabatini et Cecilia Guariglia. « Lack of orientation due to a congenital brain malformation : A case study ». Neurocase 11, n^o 6 (décembre 2005) : 463–74. http://dx.doi.org/10.1080/13554790500423602.

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Bamborschke, Daniel, Matthias Pergande, Kerstin Becker, Friederike Koerber, Jörg Dötsch, Anne Vierzig, Lutz T. Weber et Sebahattin Cirak. « A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation ». Brain and Development 40, n^o 6 (juin 2018) : 480–83. http://dx.doi.org/10.1016/j.braindev.2018.02.008.

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Kerchelaeva, S. B., V. V. Dergunova, N. Yu Ivannikov et O. Yu Yushina. « Multimodal approach to the management of pregnant women with brain arteriovenous malformation ». Russian Journal of Woman and Child Health 5, n^o 2 (2022) : 153–56. http://dx.doi.org/10.32364/2618-8430-2022-5-2-153-156.

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Extragenital diseases currently hold one of the leading positions among the causes of maternal death. Brain arteriovenous malformation (AVM) is a congenital anomaly of the vascular system, which is a pathological direct connection between small arteries and small veins without an interim capillary network. This phenomenon is a prerequisite for vessel rupture and hemorrhage that is potentially lethal or results in severe disability. Brain AVMs cause intracranial hemorrhages in 23% of pregnant women and maternal death in 5–12%. The authors share their experience with brain AVM in a pregnant woman with favorable maternal and fetal outcomes. Management approaches are discussed. Timely diagnosis of AVM during pregnancy, multimodal management approach to pregnancy, delivery, and postnatal period, and the development of medical care algorithm reduce the rate of maternal death and morbidity and improve perinatal outcomes. KEYWORDS: pregnancy, delivery, postnatal period, arteriovenous malformation, hemorrhage, multimodal approach. FOR CITATION: Kerchelaeva S.B., Dergunova V.V., Ivannikov N.Yu., Yushina O.Yu. Multimodal approach to the management of pregnant women with brain arteriovenous malformation. Russian Journal of Woman and Child Health. 2022;5(2):153–156 (in Russ.). DOI: 10.32364/2618-8430-2022-5-2-153-156

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Khmara, T. V., N. B. Kuzniak, Y. A. Morarash, M. O. Ryznychuk, A. Ye Petriuk et M. P. Kavun. « Ontology of Variants of Cranial Structure and Malformations. Part I ». Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 6, n^o 2 (28 avril 2021) : 20–30. http://dx.doi.org/10.26693/jmbs06.02.020.

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Annually severe congenital abnormalities occur in 1 of 33 newborns or about 125.000 live births in the United States and are the leading cause of infant mortality. Craniofacial anomalies account for about one-third of all abnormalities. The prevalence of human congenital malformations is an important characteristic of public health. According to the World Health Organization, the birth rate of children with cleft lip and palate is on average 1:750 newborns, which is 20-30% of all human malformations and 86% of maxillofacial malformations. They contribute significantly to infant morbidity and disability as well as millions of dollars in health care costs each year. Development of the human skull begins about 23-26 days after fertilization, when a multipotent population of cranial neural crest cells migrates from the dorsal part of the neuraxis to the embryonic head region, giving rise to the frontal bone and interparietal part of the occipital bone, while the rest of the cranial arch comes mainly from the mesoderm. A malformation is a deviation from the normal development of an organ or tissue. Among the causes are chromosomal abnormalities, single gene defects, teratogenic or multi-factor agents, that is, a combination of genetic and external factors; the smallest number of cases are idiopathic. Exogenous causes of human congenital abnormalities include: physical (mechanical, thermal, radiation); chemical (hypoxia, malnutrition, hormonal discordance, teratogenic poisons); biological (viruses, bacteria and their toxins, protozoa); mental factors. Endogenous causes are heredity (changes in hereditary structures, mutations); biological inadequacy of germ cells (endocrine disorders, “over-ripening” of germ cells); parents’ age. Congenital craniofacial abnormalities are caused by improper growth and/or development of the brain and facial parts of the skull and soft tissue. Craniofacial abnormalities affecting the skull include macrocephaly, microcephaly and unilateral deformities. Sometimes cranial sutures fuse too early and craniosynostosis occurs, which is accompanied by various cranial deformities. This leads to abnormal cranial development, which can cause dysmorphia, and in the most severe cases catastrophically affect brain development. Conclusion. Based on the analysis of the literature sources, an attempt has been made to summarize the existing information and classifications of congenital cranial abnormalities, as well as the interpretation of various anomalies of the brain and facial skull in alphabetic order. The most common stigmas and malformations of the skull bones are briefly characterized

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Sandu, Aurelia Mihaela, et M. R. Gorgan. « Partial thrombosed parasagittal AVM, complete resection. Case report ». Romanian Neurosurgery 29, n^o 3 (1 septembre 2015) : 255–63. http://dx.doi.org/10.1515/romneu-2015-0034.

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Abstract INTRODUCTION: Arteriovenous malformations (AVMs) are congenital lesions formed by a network of dysplastic vessels. CASE REPORT: We report a case of a 63 years old man, admitted with seizures and headache. Imaging findings, angio-CT, angio-MR and angiography revealed a partially thombosed right parasagittal frontal AVM, with fully thrombosed associated flow-related aneurysm on the main arterial feeder. The patient underwent surgery and we performed total resection of the AVM. The particularity of this case is the rare possibility of outcome with regression of the vascular malformation. CONCLUSIONS: Brain AVMs are evolutive lesions. Regression, through progressive thrombosis of the nidus is a rare possible outcome in brain AVMs. In thrombosed AVMs angiography is not reliable, and angio-CT and/or angio-MR are mandatory, in order to correctly evaluate nidus size and associated lesions. Symptomatic AVMs require surgery. Partial thombosed AVMs can be safely resected.

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Babintseva, Anastasiya, Yu Yu Khodzinska, І. V. Lastivka, О. І. Yurkiv, A. I. Roshka et S. І. Basistyi. « ARNOLD-CHIARI MALFORMATION : LITERATURE REVIEW AND CLINICAL CASE IN SIBLINGS ». Neonatology, surgery and perinatal medicine 11, n^o 1(39) (14 juin 2021) : 58–64. http://dx.doi.org/10.24061/2413-4260.xi.1.39.2021.8.

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Arnold-Chiari malformation is a defectof the cervical-medullar transition characterized bydisplacement of the cerebellar tonsils and in a numberof cases when the stem and IV ventricle extend into theforamen magnum. There are four main types of pathology,and type II is found most often.The article presents a clinical case of type II ArnoldChiari malformation in siblings. The newborn girl born afterVII pregnancy and VII physiological delivery in the termof 39-40 weeks was under observation. US examination inthe terms of 20-21 and 34 weeks of gestation diagnoseda congenital developmental defect of the central nervoussystem characterized by a “lemon”-like shape of the brain,displacement of the brain structures in the portion of theforamen magnum, ventriculomegaly, a defect of the lumbarsacral portion with formation of hernia sac, and dropsy ofamnion. The family couple refused from interruption ofpregnancy and medical-genetic examination.The basic diagnosis of the child was congenitaldevelopmental defect of the central nervous system(type II Arnold-Chiari malformation: rachischisis andhydrocephalus) including complications such as inferiortorpid paraplegia and dysfunction of the pelvic organs.Investigation of hereditary anamnesis foundcompromised heredity on the mother’s side (her mother’ssibling has Down’s syndrome), and IV child in the familyis disabled from birth due to a congenital developmentaldefect of the central nervous system – type II Arnold-Chiarimalformation.The family couple refused from a comprehensivemedical-genetic consultation during the previous andcurrent pregnancies, and magnetic-resonance imaging ofthe child.

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Yokota, Akira, Hidehiko Kajiwara, Masato Kohchi, Isao Fuwa et Hidetaka Wada. « Parietal cephalocele : clinical importance of its atretic form and associated malformations ». Journal of Neurosurgery 69, n^o 4 (octobre 1988) : 545–51. http://dx.doi.org/10.3171/jns.1988.69.4.0545.

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✓ In this study of atretic cephaloceles, the authors have considered the pedunculated or sessile type of cephalocele and also small nonpedunculated scalp defects developing in the vertex midline. Parietal cephaloceles were found in 15 infants (10 boys and five girls), and accounted for 37.5% of all cephaloceles. They consisted of four encephaloceles, six meningoceles, and five atretic cephaloceles. The clinical and morphological characteristics of parietal cephaloceles were investigated and compared with those arising at other locations. Parietal cephaloceles carried a much less favorable prognosis than those in the occipital region, regardless of the type of cephalocele; they were associated with cerebral malformations more frequently and were more severe than occipital cephaloceles. Grave congenital anomalies were found in 87% of patients with parietal cephalocele, and only two patients (neither of whom had any other malformation) attained normal development. Brain malformations were closely related to the site from which the cephalocele issued, and dorsal cyst malformation was found in eight patients with parietal cephalocele. Two types of atretic cephaloceles were found, each in a different location. The first type was an alopecic lesion occurring in the parietal midline; all five patients with this type had dorsal cyst malformations and none developed normally. The second type was a nodular lesion developing at the occipital midline, not associated with cerebral anomalies; all five patients with this type showed normal development. The pathogenesis of atretic cephaloceles and their associated intracranial malformations are discussed.

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Miller, Brandon A., David I. Bass et Joshua J. Chern. « Development of a de novo arteriovenous malformation after severe traumatic brain injury ». Journal of Neurosurgery : Pediatrics 14, n^o 4 (octobre 2014) : 418–20. http://dx.doi.org/10.3171/2014.7.peds1431.

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Arteriovenous malformations (AVMs) are typically considered congenital lesions, although there is growing evidence for de novo formation of these lesions as well. The authors present the case of an AVM in the same cerebral cortex that had been affected by a severe traumatic brain injury (TBI) more than 6 years earlier. To the best of the authors' knowledge, this is the first report attributing the formation of an AVM directly to TBI.

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Kwiatkowska, M., J. Rose et A. Pomianowski. « Dandy-Walker malformation in Polish hunting dogs : long term prognosis and quality of life ». Veterinární Medicína 64, No. 1 (23 janvier 2019) : 37–43. http://dx.doi.org/10.17221/58/2018-vetmed.

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In the last few years, it has become easier to diagnose congenital brain malformations in dog’s ante-mortem. This is probably due to the wider availability of advanced diagnostic imaging, in particular computed tomography or magnetic resonance imaging (MRI). Despite this, there is still not much literature available about potential treatments, outcome and overall prognosis with respect to the patient’s quality of life. We present three cases of Dandy-Walker malformation in Polish hunting dogs with up to five years follow up including assessment of their quality of life. A nine-week-old Polish hunting dog was presented with progressive signs of ataxia that had developed over the preceding few weeks. MRI revealed a Dandy-Walker malformation. The dog underwent MRI at the ages of 12 and 36 months, and his neurological condition was followed for five years. No other subsequent abnormities were found on further diagnostic tests. The dog showed transient behavioural problems which improved after castration and training. The ataxia seen at first visit improved with time and intensive physiotherapy, and the dog was considered to have a good quality of life in the owner’s eyes. A further two cases shared a similar disease course. Dandy-Walker malformation was confirmed with MRI, but diagnostic imaging could not be reported here because the owner did not consent to publication. The Dandy-Walker malformations described in these three Polish hunting dogs had a stable disease course and revealed that dogs suffering from this condition may have a good quality of life, providing no other abnormalities are detected and rehabilitation is performed.

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Sorenson, Thomas J., Waleed Brinjikji, Kelly D. Flemming et Giuseppe Lanzino. « Pure arterial malformation of the posterior inferior cerebellar artery with interspersed adipose tissue : case report ». Journal of Neurosurgery : Pediatrics 22, n^o 3 (septembre 2018) : 261–64. http://dx.doi.org/10.3171/2018.4.peds18135.

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Incidental vascular lesions are being discovered at an increasing frequency due to widespread noninvasive brain imaging studies. One of these lesions has recently been termed a “pure arterial malformation” (PAM), which is defined as dilated, overlapping, and tortuous arteries forming a mass of arterial loops with a coil-like appearance in the absence of arteriovenous shunting. The pathogenesis of these lesions is not known, but a congenital etiology is suspected. The authors report the case of a 17-year-old female who was found to have a PAM of the posterior inferior cerebellar artery with adipose tissue interspersed within the arterial loops. The authors believe that this abnormal intracranial association between blood vessel and adipose tissue lends further support to the theory that PAMs are the result of a congenital malformation and are therefore safe to manage conservatively given their presumed benign natural history. Far from offering conclusive evidence, this unique case report adds to the growing body of PAM literature and strengthens an increasingly supported congenital theory of genesis.

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Gowda, Vykuntaraju K., Preeti Kulhalli et Dhananjaya K. Vamyanmane. « Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India ». Journal of Neurosciences in Rural Practice 12, n^o 01 (janvier 2021) : 133–36. http://dx.doi.org/10.1055/s-0040-1721557.

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Abstract Background Cytomegalovirus (CMV) is a ubiquitous herpes virus. It is the most common congenital viral infection. Data on congenital CMV in India are lacking and hence the present study was undertaken. Objectives The aim of the study is to evaluate the clinical and radiological profile of neurological manifestations of congenital CMV infections in tertiary care hospital. Methods This is a retrospective chart review of the clinical and laboratory profile of congenital CMV infections presenting from January 2018 to February 2020 to a tertiary care hospital in Southern India. Details of clinical profile, serological and neuroimaging data were obtained and analyzed. Results A total of 42 cases with female preponderance (57%) were reported during the study period. The mean age of presentation was 2.9 years. Clinical features were developmental delay (81%), microcephaly (93%), seizures (33%), intrauterine growth restriction (19%), neonatal encephalopathy (10%), anemia (9%), jaundice (10%), hepato-splenomegaly (7%), and eye abnormalities (14%). Antenatal maternal fever was reported by 12%. Sensorineural hearing loss was present in 57%. Neuroimaging showed periventricular calcification (79%), cerebral atrophy (69%), ventricular dilatation (55%), malformations (26%), dysmyelination (12%), and temporal lobe cysts (5%). CMV-immunoglobulin-M positivity was seen in 14 cases (33%), urinary polymerase chain reaction for CMV was positive in 21 cases (50%), and clinical diagnosis was done in seven cases (16%). Conclusion Common findings in congenital CMV are microcephaly, developmental delay, seizures, anemia, and sensorineural hearing loss. Common neuroimaging findings are periventricular calcification, cerebral atrophy, malformation, white matter signal changes, and cysts. CMV can mimic like cerebral palsy, malformations of the brain, demyelinating disorders, and calcified leukoencephalopathies like Aicardi-Goutières syndrome.

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Cohen, Marta C., Ilgin Karaman, Waney Squier, Tom Farrel et Elspeth H. Whitby. « Recurrent Pseudo-TORCH Appearances of the Brain Presenting as “Dandy-Walker” Malformation ». Pediatric and Developmental Pathology 15, n^o 1 (janvier 2012) : 45–49. http://dx.doi.org/10.2350/10-01-0783-cr.1.

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Dandy-Walker malformation (DWM) is a developmental abnormality characterized by cystic dilatation of the fourth ventricle, complete or partial agenesis of the cerebellar vermis, and enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcula. Calcification of brain tissue is a feature of congenital infection, particularly those involving the TORCH ( Toxoplasma gondii, rubella virus, Cytomegalovirus, and herpesvirus) group. An autosomal-recessive congenital infection-like syndrome with intracranial and extracranial calcifications has been categorized as pseudo-TORCH syndrome. We describe two male siblings diagnosed as DWM by ultrasound and by in utero and postmortem magnetic resonance imaging (MRI) but in whom the neuropathology revealed features of intracranial necrosis and calcification in the absence of extracranial calcific deposition. The fetal anomaly was identified by routine prenatal ultrasound scan at 16 weeks. In both cases the postmortem MRI showed bilateral ventriculomegaly with distortion of the overlying cortices, enlarged posterior fossa with a cyst related to small cerebellar hemispheres, and an incomplete cerebellar vermis. The diagnosis of DWM was offered. The histology revealed hypoplastic cerebral hemispheres with poorly cellular developing cortex. The white matter and periventricular matrix were disrupted by areas of necrosis and calcification not associated with any inflammatory infiltration, organisms, inclusions, or giant cells. To our knowledge, these two male siblings are the 1st cases that show pseudo-TORCH syndrome with distinctive intracranial calcification presenting as DWM. An autosomal-recessive or X-linked inheritance needs to be considered. Our study confirms the relevance of the multidisciplinary teamwork involved in the diagnosis of these complex cases.

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Tsugu, Hitoshi, Shinya Oshiro, Hiroshi Kawaguchi, Takeo Fukushima, Kazuki Nabeshima, Shinji Matsumoto, Yuko Nomura, Sawa Yasumoto, Koichi Takano et Hidetsuna Utsunomiya. « Nonfunctioning endocrine tumor arising from intracranial ectopic pancreas associated with congenital brain malformation ». Child's Nervous System 23, n^o 11 (29 juin 2007) : 1337–40. http://dx.doi.org/10.1007/s00381-007-0391-9.

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Hossain, SK Sader, Md Abdullah Alamgir, Ferdous Ara Islam, Misbahuddin Ahmed, Shafiul Alam et Amir Mohammad Khan. « Arteriovenous Malformation (AVM) of Left Frontal Lobe : A Case Report ». Journal of National Institute of Neurosciences Bangladesh 3, n^o 1 (6 avril 2018) : 62–66. http://dx.doi.org/10.3329/jninb.v3i1.36275.

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Arteriovenous malformation (AVM) is a rare congenital condition of the brain. In majority of cases AVMs remain asymptomatic and silent till it ruptures. But it can be a cause of cerebral haemorrhage, stroke, seizures, moderate to severe headache, loss of vision, aphasia, numbness or weakness of limbs. In current study, revealed a 25 years age patient of AVM admitted in Department of Neurosurgery at National Institute of Neurosciences (NINS) on December, 2013 with the complaints of loss of consciousness two times before admission, history of generalized seizure started over left side, headache for 2 years and vertigo for 1 year. Following admission the patient was evaluated clinically including all neurological examinations. All routine investigations were done. The patient was further evaluated by MRI, CT scan, CTA. Arteriovenous malformation was found in left frontal region. Under G/A nidus was excised totally in a single mass. Post MRI had shown the total removal of the AVM. Histopathological findings also revealed arteriovenous malformations. The post-operative period was uneventful and patient improved satisfactorily. He was found neurologically stable in follow up after 3 months. These researchers reported this case for its rarity and effective diagnosis and treatment by surgery.Journal of National Institute of Neurosciences Bangladesh, 2017;3(1): 62-66

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Low, Qin Jia, Nai Chien Huan et Wei Lun Tan. « Dandy-Walker Syndrome in a Child at Rural Kelantan, Malaysia ». Borneo Journal of Medical Sciences (BJMS) 12, n^o 2 (22 juin 2018) : 41. http://dx.doi.org/10.51200/bjms.v12i2.902.

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Dandy-Walker syndrome is a rare congenital malformation of the brain that involves the cerebellum and the fourth ventricle. It is characterised by a classical triad of hydrocephalus, cystic dilatation of the fourth ventricle and complete or partial agenesis of the vermis. Majority of cases are diagnosed during neonatal or early infantile period. In this case report, a seven-year-old boy complained of recurrent headaches for the past one year. Physical examination was unremarkable. Examination of the fundus on the same day revealed bilateral papilloedema. His subsequent computed tomography scan of the brain done at a major district hospital demonstrated features in keeping with Dandy-Walker malformation. Our case highlighted the importance of embarking on a detailed and thorough approach when dealing with a child with chronic headache, especially in rural settings where advanced medical equipment is not readily available.

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Lee, K., H. Furuoka, N. Sasaki, M. Ishii, H. Inokuma et K. Yamada. « Congenital porencephaly with cerebellar hypoplasia in a Holstein calf : a case report ». Veterinární Medicína 56, No. 6 (19 juillet 2011) : 302–6. http://dx.doi.org/10.17221/1546-vetmed.

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We describe the case of a nine-day-old female Holstein calf which had cheiloschisis, a moderate dome-shaped head, ataxia and opisthotonus since birth. No significant findings except the dome-shaped head were observed on survey radiography of the skull. Computed tomography (CT) images showed bilateral lateral ventriculomegaly, cerebellar hypoplasia and a cyst-like lesion communicating with the right lateral ventricle. Post-mortem examination revealed a cerebral defect in the frontoparietal lobe, which communicated with the right lateral ventricle, and cerebellar hypoplasia. CT provided a characteristic finding of porencephaly and was helpful for diagnosing the accompanying anomalies. We suggest that porencephaly should be included as a specific anomaly in the differential diagnosis of congenital brain malformation.  

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C. Lage, Maria-Lucia, Alessandra Carvalho, Paloma Ventura, Tania Taguchi, Adriana Fernandes, Suely Pinho, Onildo Santos-Junior, Clara Ramos et Cristiana Nascimento-Carvalho. « Clinical, Neuroimaging, and Neurophysiological Findings in Children with Microcephaly Related to Congenital Zika Virus Infection ». International Journal of Environmental Research and Public Health 16, n^o 3 (23 janvier 2019) : 309. http://dx.doi.org/10.3390/ijerph16030309.

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Zika virus (ZIKV) infection appeared in Brazil in 2015, causing an epidemic outbreak with increased rates of microcephaly and other serious birth disorders. We reviewed 102 cases of children who were diagnosed with microcephaly at birth and who had gestational exposure to ZIKV during the outbreak. We describe the clinical, neuroimaging, and neurophysiological findings. Most mothers (81%) reported symptoms of ZIKV infection, especially cutaneous rash, during the first trimester of pregnancy. The microcephaly was severe in 54.9% of the cases. All infants presented with brain malformations. The most frequent neuroimaging findings were cerebral atrophy (92.1%), ventriculomegaly (92.1%), malformation of cortical development (85.1%), and cortical–subcortical calcifications (80.2%). Abnormalities in neurological exams were found in 97.0% of the cases, epileptogenic activity in 56.3%, and arthrogryposis in 10.8% of the infants. The sensorineural screening suggested hearing loss in 17.3% and visual impairment in 14.1% of the infants. This group of infants who presented with microcephaly and whose mothers were exposed to ZIKV early during pregnancy showed clinical and radiological criteria for congenital ZIKV infection. A high frequency of brain abnormalities and signs of early neurological disorders were found, and epileptogenic activity and signs of sensorineural alterations were common. This suggests that microcephaly can be associated with a worst spectrum of neurological manifestations.

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Gama Marques, João Gama. « Schizophrenia Misdiagnosis after Capgras and Cotard Delusions in a Patient with Infantile Cystinosis, Cavum Septi Pellucidi, Cavum Vergae and Cavum Veli Interpositi ». Behavioral Sciences 13, n^o 2 (11 février 2023) : 157. http://dx.doi.org/10.3390/bs13020157.

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How many patients with psychosis secondary to genetic conditions or congenital brain malformation have been diagnosed with schizophrenia, since its initial conception more than one hundred years ago? A case report of a young man, with antecedents of Capgras and Cotard syndromes, sent to a schizophrenia treatment-resistant outpatient clinic is presented. Instead of true, primary, idiopathic schizophrenia, a diagnosis of secondary schizophrenia (pseudo-schizophrenia or schizophrenia-like psychosis) was made, corresponding to a secondary psychotic syndrome, with hallucinations and delusions due to congenital cavum septi pellucidi, cavum vergae, cavum veli interpositi and progressive brain atrophy due to cystinosis. Extreme caution is recommended when diagnosing schizophrenia in severely psychotic patients independent of their acute or chronic condition. Schizophrenia shall never be forgotten as the great imitated of medicine.

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Markovic, Ivana, Petar Bosnjakovic et Zoran Milenkovic. « Occipital Encephalocele : Cause, Incidence, Neuroimaging and Surgical Management ». Current Pediatric Reviews 16, n^o 3 (5 novembre 2020) : 200–205. http://dx.doi.org/10.2174/1573396315666191018161535.

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Aim: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele. Background: Encephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect and dura with extracranial spread of intracranial structures. Occipital encephalocele (OE) are the most common form of this congenital disorder and are manifested as a swelling of different sizes over the occipital bone in the midline. Proper diagnosis and treatment is highly important in the management of this congenital malformation of brain. Objective: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele. Methods: We conducted a search of case reports or case-series of patients by the use of electronic databases: Pub Med, Medline, Index Medicus, Scorpus. The key words were: encephalocele, occipital encephalocele, neural tube defect, congenital malformation. The search was updated to December 31, 2018. Papers published in English were the only source of information. Results: Occipital encephalocelle are more frequent in females than in males. The incidence is between 1 in 3000 to 1 in 10,000 live births; approximately 90% of them involve the midline. Magnetic resonance imaging is the method of choice in diagnosis and surgery is the best option for the treatment of OE. Overall morbidity and mortality is still high in spite of advenced surgical management, but have been significantly improved in recent years thanks to sophisticated highresolution imaging, adequate and proper surgical treatment and decent post-operative care. Conclusion: Occipital encephalocele is the most common form of encephalocele. The diagnosis is mostly based by the use of neuroimaging techniques. Operation is the best option for treatment. Overall morbidity and mortality is still high, but have been significantly improved in recent years thanks to sophisticated high-resolution imaging, adequate and proper surgical treatment and decent post-operative care.

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Cherevko, Alexandr A., Tatiana S. Gologush, Irina A. Petrenko, Vladimir V. Ostapenko et Vyacheslav A. Panarin. « Modelling of the arteriovenous malformation embolization optimal scenario ». Royal Society Open Science 7, n^o 7 (juillet 2020) : 191992. http://dx.doi.org/10.1098/rsos.191992.

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Cerebral arteriovenous malformation (AVM) is a congenital brain vessels pathology, in which the arterial and venous blood channels are connected by tangles of abnormal blood vessels. It is a dangerous disease that affects brain functioning causing the high risk of intracerebral haemorrhage. One of AVM treatment methods is embolization—the endovascular filling of the AVM vessel bundle with a special embolic agent. This method is widely used, but still in some cases is accompanied by intraoperative AVM vessels rupture. In this paper, the optimal scenario of AVM embolization is studied from the safety and effectiveness of the procedure point of view. The co-movement of blood and embolic agent in the AVM body is modelled on the basis of a one-dimensional two-phase filtration model. Optimal control problem with phase constraints arising from medicine is formulated and numerically solved. In numerical analysis, the monotone modification of the CABARET scheme is used. Optimal embolization model is constructed on the basis of real patients' clinical data collected during neurosurgical operations. For the special case of embolic agent, input admissible and optimal embolization scenarios were calculated.

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