Log in

Relevant bibliographies by topics / Congenital brain malformation

Contents

Journal articles
Dissertations / Theses
Books
Book chapters
Conference papers

Academic literature on the topic 'Congenital brain malformation'

Author: Grafiati

Published: 9 March 2023

Last updated: 10 March 2023

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Congenital brain malformation.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Congenital brain malformation"

1

Dhande, Rajasbala Pradeep, Megha Manoj, Roohi Gupta, Prerna Patwa, and Prasanthi Ghanta. "Congenital Arteriovenous Malformation of Lip - A Case Report." Journal of Evolution of Medical and Dental Sciences 10, no. 30 (July 26, 2021): 2354–57. http://dx.doi.org/10.14260/jemds/2021/482.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

2

Glauser, Tracy A., Lucy B. Rorke, Paul M. Weinberg, and Robert R. Clancy. "Congenital Brain Anomalies Associated With the Hypoplastic Left Heart Syndrome." Pediatrics 85, no. 6 (June 1, 1990): 984–90. http://dx.doi.org/10.1542/peds.85.6.984.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

3

Segal, Devorah, Robert F. Heary, Sanjeev Sabharwal, Maureen T. Barry, and Xue Ming. "Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome." Journal of Neurosurgery: Pediatrics 18, no. 1 (July 2016): 79–82. http://dx.doi.org/10.3171/2016.1.peds15482.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

4

Lagunavichene, M. L., S. N. Larionov, Yu A. Alexandrov, A. V. Livadarov, P. G. Gruzin, and 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, no. 3 (July 8, 2020): 126–30. http://dx.doi.org/10.21508/1027-4065-2020-65-3-126-130.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

5

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, no. 9 (August 22, 2020): 998–1010. http://dx.doi.org/10.1093/jnen/nlaa062.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

6

Hmilevskaya, Svetlana A., Galina N. Masljakowa, Nikolai I. Zryachkin, Olga A. Makarowa, Mikhail M. Bazalitsky, and Tatiana V. Elizarova. "Angiodysplasia Combined with Thymic Aplasia in an Infant: A Rare Clinical Case." Current pediatrics 17, no. 4 (October 5, 2018): 333–40. http://dx.doi.org/10.15690/vsp.v17i4.1928.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

7

Begum, Most Umme Habiba, and Md Anisur Rahman. "Dandy –Walker Malformation with Patent Ductus Arteriosus– A Case Report." Journal of Bangladesh College of Physicians and Surgeons 36, no. 3 (June 17, 2018): 128–31. http://dx.doi.org/10.3329/jbcps.v36i3.37038.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

8

Yang, Xiang, Xiaolin Ai, Seidu A. Richard, and 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, no. 3 (July 31, 2018): 20. http://dx.doi.org/10.7575/aiac.abcmed.v.6n.3p.20.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

9

Gawrych, Elżbieta, Joanna Janiszewska-Olszowska, Anna Walecka, Maria Syryńska, and Hanna Chojnacka. "Lobar Holoprosencephaly with a Median Cleft: Case Report." Cleft Palate-Craniofacial Journal 46, no. 5 (September 2009): 549–54. http://dx.doi.org/10.1597/08-059.1.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

10

Patil, Nanda, Vaidehi Nagar, and Chirag Sharma. "Exencephaly with Cystic Adenomatoid Malformation- A Review of a Rare Case." Galore International Journal of Health Sciences and Research 6, no. 2 (June 15, 2021): 45–47. http://dx.doi.org/10.52403/gijhsr.20210406.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

More sources

Dissertations / Theses on the topic "Congenital brain malformation"

1

Haras, M. N. "A case of extrapulmonary tuberculosis in a child with congenital brain malformation." Thesis, БДМУ, 2021. http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/19098.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

DE, FABRITIIS PAOLA. "Brainless? With a good head on their shoulders! How children without corpus callosum take on developmental challenges." Bachelor's thesis, Università degli Studi di Milano, 2010. http://hdl.handle.net/10281/36913.

Full text

Abstract:

Studies on split-brain cases have helped elucidate a crucial role of the corpus callosum (CC), that is information transfer between the two cerebral hemispheres (Gazzaniga, 2000). Comparative psychology studies suggested that CC plays a role in the acquisition of hemispheric specialisation. The relation between information integration in higher cognitive functions and specialisation development has to be unravelled yet. The contribution of the corpus callosum (CC) to the development of cognitive functions and the concurrent hemispheric specialisation has been relatively neglected until recently. This study examines the developmental trajectories in different domains in callosal agenesis (ACC), a pathology in which the corpus callosum (CC) is absent since birth. When ACC is isolated, children may develop normal intelligence. These extremely rare cases might help understand how the CC contributes to cognitive and linguistic functions epigenesis. Differently from adult split-brains, ACC children can transfer simple tactile and visual information across hemispheres, attesting to neuronal plasticity. Nevertheless, in tasks demanding more of efficient callosal integration (e.g. BFA Banich, 1990), their performance appears quantitatively and qualitatively different from controls. ACC individuals show early motor coordination difficulties, and no patent language impairments in routine clinical tests. At later ages, simple motor coordination problems are overcome, but bimanual coordination difficulties are distinctively reported, alongside with clearer impairments in communication abilities. While in childhood comprehension of language - literal and non-literal - is suboptimal, only in adolescence, metaphors and idioms comprehension, requiring fast inter-hemispheric integration of language skills, reveal frank difficulties. A very similar developmental trajectory emerges from a double single case of complete AgCC, examined experimentally at 8 and 12 years of age. Extent and limits of neuronal plasticity in congenital absence of CC is discussed on the background of the Dennis’ and neuroconstructivist theories. Post Scriptum. As the present work concerns only two participants and other participants are about to be recruited, anybody interested in being updated should contact me at P_de_fabritiis@yahoo.co.uk or pdefabritiis@hotmail.com, Or the Italian Forum about AgCC: agenesiacorpocalloso@hotmail.it

APA, Harvard, Vancouver, ISO, and other styles

Books on the topic "Congenital brain malformation"

1

Sarwar, Mohammad. Computed Tomography of Congenital Brain Malformations. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2571-0.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Computed tomography of congenital brain malformations. St. Louis, Mo., U.S.A: W.H. Green, 1985.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

3

Sarwar, Mohammad. Computed tomography of congenial brain malformations. St. Louis, Mo: W.H. Green, 1985.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

4

G, Norman Margaret, ed. Congenital malformations of the brain: Pathologic, embryologic, clinical, radiologic, and genetic aspects. New York: Oxford University Press, 1995.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

5

Wikholm, Gunnar. Role of transarterial embolization in the management of cerebral arteriovenous malformations. Copenhagen: Munksgaard, 1996.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

6

Fox, Grenville, Nicholas Hoque, and Timothy Watts. Neurological problems. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198703952.003.0011.

Full text

Abstract:

This chapter includes sections on the neurological examination of the newborn, and the approach to investigation of babies with reduced muscle tone, neonatal encephalopathy, seizures, congenital malformation of the brain, and other common neurological problems in term and preterm babies. There are also detailed sections on various modalities of neuroimaging, electroencephalography, and other neurological investigations.

APA, Harvard, Vancouver, ISO, and other styles

7

Sarwar, Mohammed. Computed Tomography of Congenital Brain Malformations. Springer London, Limited, 2012.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

8

Sarwar, Mohammed. Computed Tomography of Congenital Brain Malformations. Springer, 1986.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

9

Pilz, Daniela. Molecular Perspectives on Congenital Cortical Brain Malformations. Morgan & Claypool Life Science Publishers, 2014.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

10

Pilz, Daniela. Molecular Perspectives on Congenital Cortical Brain Malformations. Morgan & Claypool Life Science Publishers, 2012.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

Book chapters on the topic "Congenital brain malformation"

1

Sarwar, Mohammad. "Arnold-Chiari Malformation." In Computed Tomography of Congenital Brain Malformations, 77–95. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2571-0_5.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Sarwar, Mohammad. "Dandy-Walker Malformation." In Computed Tomography of Congenital Brain Malformations, 96–114. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2571-0_6.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Gaitanis, John N. "Congenital Brain Malformations and Hydrocephalus." In Textbook of Clinical Pediatrics, 3281–90. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-02202-9_359.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Liu, Jungang. "Congenital Malformations of the Brain." In Pediatric Neuroimaging, 1–19. Singapore: Springer Singapore, 2022. http://dx.doi.org/10.1007/978-981-16-7928-5_1.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

Goyal, Swati. "Normal Brain Development and Congenital Malformations." In Neuroradiology, 1–11. First edition. | Boca Raton, FL : CRC Press, 2020.: CRC Press, 2020. http://dx.doi.org/10.1201/9780367903206-1.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Sarwar, Mohammad. "Introduction." In Computed Tomography of Congenital Brain Malformations, 3–6. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2571-0_1.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

Sarwar, Mohammad. "Embryology of the Central Nervous System." In Computed Tomography of Congenital Brain Malformations, 7–20. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2571-0_2.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

Sarwar, Mohammad. "Dysgenesis of the Corpus Callosum." In Computed Tomography of Congenital Brain Malformations, 21–49. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2571-0_3.

Full text

APA, Harvard, Vancouver, ISO, and other styles

9

Sarwar, Mohammad. "Holoprosencephaly (Prosencephaly)." In Computed Tomography of Congenital Brain Malformations, 50–76. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2571-0_4.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

Sarwar, Mohammad. "Hydrocephalus." In Computed Tomography of Congenital Brain Malformations, 115–26. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2571-0_7.

Full text

APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "Congenital brain malformation"

1

Gounis, Matthew J., Baruch B. Lieber, and L. N. Hopkins. "Endovascular Embolization With Cyanoacrylate Mixtures: An In Vivo Study of Polymerization Kinetics." In ASME 2001 International Mechanical Engineering Congress and Exposition. American Society of Mechanical Engineers, 2001. http://dx.doi.org/10.1115/imece2001/bed-23011.

Full text

Abstract:

Abstract A cerebral arteriovenous malformation (AVM) is a congenital vascular lesion of the brain composed of a complex tangle of arteries and veins, which are linked by one or more fistulae [1]. Arterial blood is shunted through the AVM directly to the venous system, precluding arterial blood from perfusing adjacent brain structures. The most common presentation of this disease is cerebral hemorrhage secondary to AVM rupture, with an associated mortality of 15% and a morbidity of 50% [1]. One modality to treat this pathology is endovascular embolization. Generally, endovascular embolization serves as an adjunct treatment to either surgery or radiosurgery, but is a curative treatment in approximately 15% of AVM cases [2]. The most common embolic agent used to occlude AVMs is a mixture of n-butyl 2-cyanoacrylate (NBCA) and Lipiodol®. NBCA is a rapidly polymerizing liquid adhesive that polymerizes with contact to blood. Lipiodol® is an ethiodized oil, which imparts radiopacity to the embolic mixture. Moreover, Lipiodol® has been reported to delay the polymerization of NBCA [3]. To further increase the polymerization time of NBCA, minute quantities of glacial acetic acid (GAA) may be added to the embolic mixture.

APA, Harvard, Vancouver, ISO, and other styles

2

Oliveira, Jefferson Borges de, Caroline Berthier Zanin, Gustavo Carreira Henriques, Maiévi Liston, Rafael Glória Zatta, Rodrigo de Faria Martins, and Tatiana Pizzolotto Bruch. "Pallister-Hall Syndrome - case report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.575.

Full text

Abstract:

In 1980, Hall et all described a syndrome characterized by “hamartoblastoma”, hypopituitarism, unperfurated anus, polydactyly postaxial and numerous visceral anomalies, today known as Pallister-Hall Syndrome. On the study, Hall et all reported six cases of children with that malformation syndrome - lethal on neonatal period. None of the newborns had anterior hypophysis and the hypothalamic tumor was apparent in the inferior part of the brain, going from the optic chiasm to the interpeduncular fossa. Besides, other anomalies were found, such as: laryngeal split, abnormal pulmonary lobation, renal agenesis or dysplasia, shorts fourth metacarpals, nail dysplasia, multiple mouth frenulum, hypoadrenalism, congenital cardiomyopathy and intrauterine growth retardation. Every case was sporadic, the chromosome were apparently normal, without consaguinity relations. Several similar, milder and even asymptomatic cases were described later on. Kletter and Biesecker (1992), Topf et all (1993) and Penman Splitt et all (1994), define the disease as dominant autosomal inheritance. Kettler and Biesecker (1992) stated that most cases as sporadic as a result of a gene mutation with variable expressiveness. According to Biesecker et al (1996), an international workshop determined diagnostic criteria to the Syndrome: Hypothalamic Hamartroma and Central Polydactyly; First degree relative with hypothalamic hamartroma and polydactyly; Dominant autosomal parrent inheritance or in a consistent form with germaine mosaicism. The radiological changes are important for differential diagnosis between Pallister-Hall Syndrome and other hamartroma-present diseases. The hypothalamic hamartroma isolated has phenotypical features and causes hormonal disorders such as early puberty. On the MRI (Magnetic resonance imaging) it shows hyperintese sign on attenuated fluid. On the other hand, the Pallister-Hall Syndrome the hamartroma shows itself as a isointense signs along with other deformities as polydactyly, for example. According to Kuo et al (1999), on MRI, the classic hypothalamic hamartroma isn’t calcified, is homogenous and isointense to the grey matter on weight images in T1, and isointense and often hyperintense on weight images in T2. Those findings are pretty distinctive and help distinguish the hypothalamic hamartroma from ordinary lesions, as craniopharyngioma and hypothalamic/opticalchiasmic glioma, observed in children. Case report: The patient ALDV, male, born in 30/12/1995, was referred to evaluation on the Medical Genetic Service from HCPA. At the time, aged one year and 8 months, he was the only son of a young, healthy couple with no consanguinity. The family history of similar cases or other genetic pathologies are unknown. The prenatal happened with no intercurrences, unless the smoking mother. It was a natural birth; Birth Weight: 2kg; High: 42cm; PC: 32cm. APGAR 9. At 8 months, starts an investigation for precocious puberty, and a karyotype was performed in her hometown: 46, XY (normal). He presents convulsive crises since one year old. DNPM: cephalic support when he had 8 months, sat without support at the age of one. Physical examination: Head circumference in the 97th percentile, length above the 97th percentile. Good general condition, dysmorphic, facies with fusion of eyebrows (sinofre), epicanthus, small nose, dysplastic ears with a broad shield, three café-au-lait spots on the body. Presence of pubic hair. Increase in length and diameter of the penis, as well as of the testicles, in relation to chronological age. In the hands, significant brachydactyly with bitateral hexadactyly. In the feet, bilateral hexadactyly. Proximal cutaneous syndactyly between the 2nd and 3rd bilateral arthroids, mainly on the right. Additional exams: Rx of hands and wrists for bone age: 7 years; Chronological Age: 1 year and 10 months. Normal abdominal ultrasound; Computed Tomography of Skull/Magnetic Resonance of Skull: hypothalamic expansive lesion (3 cm), compatible with hamartoma; triventricular hydrocephalus; Cavum septum pellucidum. Endocrinological Evaluation: compatible with precocious puberty of central cause. High resolution karyotype: 46, XY (normal). Computed tomography of the brain: Examination for neurological control, performed on 10/12/2014, 18-year-old patient. It was observed solid nodular formation in the hypothalamic region, hypodense, with well-defined limits, in close contact with the mesencephalon, without impregnation by contrast medium administered intravenously, measuring about 2.9 X 2.4 X 3.0 cm, in the respective laterolateral, anteroposterior and craniocaudal planes, which in correlation with the patient’s clinical history may be related to hypothalamic Hamartoma.

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!