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Journal articles on the topic 'Hypoplasia cerebellar'

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Author: Grafiati

Published: 11 March 2023

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1

Kornegay, J. N. "Cerebellar Vermian Hypoplasia in Dogs." Veterinary Pathology 23, no. 4 (July 1986): 374–79. http://dx.doi.org/10.1177/030098588602300405.

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Six dogs with cerebellar dysplasia, in which the cerebellar vermis was hypoplastic, are described. Clinical signs in these dogs were noted around 2 weeks of age and included ataxia, dysmetria, and intention tremors. A variable portion of the caudal cerebellar vermis was absent in each dog; portions of the cerebellar hemispheres and flocculus also were absent in some of them. Neurons in certain brain stem nuclei that project to the cerebellum were either chromatolytic or vacuolated. Cerebellar vermian hypoplasia of dogs is analogous to the Dandy-Walker syndrome of human beings.

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2

Houssni, Jihane El, Siham El Haddad, Latifa Chat, and Allali Nazik. "Pachygyria with cerebellar hypoplasia and tigroid pattern of the white matter secondary to neuronal migration disorders." International Journal of Case Reports and Images 13, no. 2 (September 27, 2022): 130–33. http://dx.doi.org/10.5348/101343z01ej2022cr.

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Introduction: Pachygyria is a subtype of the lissencephaly spectrum that is secondary to neuronal migration disorders during embryogenesis, it may be associated with other extracortical anomalies such as cerebellar hypoplasia. Lissencephaly with cerebellar hypoplasia is a very rare malformation. In this form we can also observe a tigroid pattern of the white matter. Case Report: We report a very rare case of an infant with pachygyria with cerebellar hypoplasia and a tigroid appearance of the substance secondary to a neuronal migration disorder. Conclusion: Lissencephaly with hypoplasia of the cerebellum is a very rare malformation. The tigroid pattern of the white matter can be observed in neuronal migration disorders. Magnetic resonance imaging (MRI) of the brain is the key examination in the exploration of lissencephaly.

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3

Garel, Catherine, Catherine Fallet-Bianco, and Laurent Guibaud. "The Fetal Cerebellum." Journal of Child Neurology 26, no. 12 (September 27, 2011): 1483–92. http://dx.doi.org/10.1177/0883073811420148.

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The cerebellum undergoes a protracted development, making it particularly vulnerable to a broad spectrum of developmental events. Acquired destructive and hemorrhagic insults may also occur. The main steps of cerebellar development are reviewed. The normal imaging patterns of the cerebellum in prenatal ultrasound and magnetic resonance imaging (MRI) are described with emphasis on the limitations of these modalities. Because of confusion in the literature regarding the terminology used for cerebellar malformations, some terms (agenesis, hypoplasia, dysplasia, and atrophy) are clarified. Three main pathologic settings are considered and the main diagnoses that can be suggested are described: retrocerebellar fluid enlargement with normal or abnormal biometry (Dandy-Walker malformation, Blake pouch cyst, vermian agenesis), partially or globally decreased cerebellar biometry (cerebellar hypoplasia, agenesis, rhombencephalosynapsis, ischemic and/or hemorrhagic damage), partially or globally abnormal cerebellar echogenicity (ischemic and/or hemorrhagic damage, cerebellar dysplasia, capillary telangiectasia). The appropriate timing for performing MRI is also discussed.

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4

Chiapparini, Luisa, and Marco Moscatelli. "Neuroimaging of Pediatric Cerebellum in Inherited Neurodegenerative Diseases." Applied Sciences 11, no. 18 (September 14, 2021): 8522. http://dx.doi.org/10.3390/app11188522.

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In the study of cerebellar degenerative diseases, morphologic imaging (computed tomography, CT and magnetic resonance imaging, MRI) is the most common examination. From the clinical and genetic point of view, cerebellar degenerative diseases include heterogeneous conditions in which MRI may show isolated cerebellar atrophy or cerebellar atrophy associated with other cerebellar or supratentorial abnormalities. Neuroradiological progression is often observed. In congenital disorders of glycosylation (CDG), for example, MRI may be normal, may demonstrate mild cerebellar atrophy or, in the advanced stages of the disease, marked atrophy of the cerebellar hemispheres and vermis associated with the abnormal signal intensity of the cerebellar cortex and white matter and brainstem hypotrophy. In spinal cerebellar ataxias (SCAs), very rare in the pediatric population, MRI may demonstrate isolated cerebellar atrophy or cerebellar and brainstem atrophy. MRI shows characteristic findings in other diseases, strongly suggesting a distinct disorder, such as neuroaxonal dystrophy, ARSACS, ataxia-telangiectasia, or precise mitochondrial diseases. An example of neurodegenerative disorder with prenatal onset is pontocerebellar hypoplasia (PCH). PCH represents a group of neurodegenerative disorders characterized by microcephaly, early cerebellar hypoplasia, and variable atrophy of the cerebellum and ventral pons, genetically divided into several subtypes. Cerebellar hypoplasia visible on MRI is often the first sign that suggests the clinical diagnosis. In most cases, the PCH subtype may demonstrate a characteristic pattern distinguishable at MRI. Selective involvement of the cerebellum, sometimes accompanied by brainstem or supratentorial abnormalities in different combinations, may help restrict the differential diagnosis and may address the specific molecular screening.

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5

Agrawal, Amit, Kirti Deshmukh, JD Vagh, and Ajit Gadekar. "Unilateral cerebellar hypoplasia." Indian Journal of Radiology and Imaging 19, no. 2 (2009): 146. http://dx.doi.org/10.4103/0971-3026.50838.

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6

Oleari, Roberto, Danielle Whittaker, Louise Cheryl Gregory, Basson Albert, Anna Maria Cariboni, and Mehul Tulsidas Dattani. "Recessive PRDM13 Mutations Result in Hypogonadotropic Hypogonadism and Cerebellar Hypoplasia." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A551. http://dx.doi.org/10.1210/jendso/bvab048.1122.

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Abstract PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A. Here, we report a novel, recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia with cerebellar hypoplasia, scoliosis and delayed puberty with hypogonadotropic hypogonadism (HH). We investigated the development of hypothalamic neurons and the cerebellum in mice homozygous for a Prdm13 mutant allele. Cerebellar hypoplasia was evident, but male gonadal development appeared unaffected in these mutants. As PTF1A has been linked to early GABAergic neuronal cell fate regulation in the spinal cord, we examined GABAergic neuron progenitor development in the hypothalamus and cerebellum. A significant reduction in the number of Kisspeptin neurons in the hypothalamus and PAX2+ progenitors emerging from the cerebellar ventricular zone was observed. The latter was accompanied by ectopic expression of the glutamatergic lineage marker TLX3. Together, these findings identify PRDM13 as a critical regulator of GABAergic cell fate during neurodevelopment, providing a mechanistic explanation for the co-occurrence of HH and cerebellar hypoplasia in this syndrome. To our knowledge, this is the first evidence linking disrupted regulation of Kiss1 neurons to CHH in humans.

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7

Krishnamurthy, Kritika, Amilcar A. Castellano-Sanchez, Christopher A. Febres-Aldana, Jyotsna Kochiyil, Carole Brathwaite, and Robert J. Poppiti. "Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant." Case Reports in Pediatrics 2019 (December 10, 2019): 1–5. http://dx.doi.org/10.1155/2019/7048537.

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Pontocerebellar hypoplasias are a group of autosomal recessive neurodevelopmetal disorders with varied phenotypic presentations and extensive genetic mutational landscape that are currently classified into ten subtypes. This classification is based predominantly on the genetic iterations as the phenotypic presentations are often broad and overlapping. Pontocerebellar hypoplasia type-3 (PCH3) is an autosomal recessive disorder characterized by a small cerebellar vermis, hyperreflexia, and seizures, described in Middle Eastern families in association with a homozygous truncating mutation of the PCLO gene in locus 7q11-21. This is a case of PCH, with previously unreported novel genetic alterations. The patient is a 1-week-old girl, born at term to a 26-year-old G4P0A3 woman in a nonconsanguinous relation. At birth, the baby was depressed and hypertonic with abnormal tonic-clonic movements of extremities. MRI revealed cerebellar and brainstem hypoplasia. Postmortem examination revealed a palmar simian crease. The cerebellum measured 2.5 cm from side to side and 1 cm from rostral to caudal. The vermis was rudimentary. Sectioning revealed a flattened linear fourth ventricle, scant abortive cerebellar foliae, and a markedly small cerebellum when compared with the cerebrum and with age-matched size. H&E-stained sections of cerebellum revealed scant rudimentary foliae. A rudimentary unilateral embolliform nucleus was identified. The remaining cerebellar nuclei were absent. Chromosomal microarray showed an interstitial duplication of 841 kB on chromosome 7q11.23. Locus 7q11.23 contains FGL2 and GSAP genes and is 5 MB upstream of the 7q11-21 region, suggesting a possible linkage. This novel genomic finding possibly represents a new familial variant of PCH closely associated with PCH-3 and further strengthens its association with the 7q11 locus.

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8

Santos, José Rômulo Soares dos, Antônio Flavio Medeiros Dantas, Clarice Ricardo Macedo Pessoa, Tatiane Rodrigues Silva, Sara Vilar Dantas Simões, Franklin Riet Correa, and Daniel Pedrosa. "Lissencephaly and cerebellar hypoplasia in a goat." Ciência Rural 43, no. 10 (October 2013): 1858–61. http://dx.doi.org/10.1590/s0103-84782013001000020.

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A case of lissencephaly and cerebellar hypoplasia was observed in a 30-day-old goat. The goat presented with sternal recumbence, absence of a menace response, intention tremors, ataxia, and nystagmus. The goat was euthanized and necropsied after having been hospitalised for eleven days. At necropsy, the surface of the brain was found to be smooth, the cerebral sulci and gyri were absent, and the cerebellum was reduced in size. Histologically, the grey matter and white matter were thicker and thinner than normal in cortices, respectively. The neurons were randomly arranged in the grey matter. In the cerebellum, the layers were disorganised, and cells were heterotopics. The histologic and gross lesions observed in this animal are characteristic of lissencephaly associated with cerebellar hypoplasia. The presence of a single goat affected suggests that the malformation was not of infectious origin and because lissencephaly is a malformation not previously described in goats, it is unlikely this case was inherited.

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9

Millichap, J. Gordon. "Cerebellar Hypoplasia and Autism." Pediatric Neurology Briefs 3, no. 5 (May 1, 1989): 38. http://dx.doi.org/10.15844/pedneurbriefs-3-5-9.

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10

Mathews, Katherine D., Adel K. Afifi, and James W. Hanson. "Autosomal Recessive Cerebellar Hypoplasia." Journal of Child Neurology 4, no. 3 (July 1989): 189–94. http://dx.doi.org/10.1177/088307388900400307.

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11

deSouza, N., R. Chaudhuri, J. Bingham, and T. Cox. "MRI in cerebellar hypoplasia." Neuroradiology 36, no. 2 (February 1994): 148–51. http://dx.doi.org/10.1007/bf00588085.

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12

Gupta, P., S. Hedgire, T. Kalyanpur, Jayesh SR, B. Madhavram, N. Sekhar, V. Ilayaraja, D. Raja, P. Mehta, and M. Cherian. "Isolated Unilateral Cerebellar Hypoplasia." Neuroradiology Journal 19, no. 5 (October 2006): 606–8. http://dx.doi.org/10.1177/197140090601900508.

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13

Harris, Christopher M., Anthony Kriss, and Isabelle Russell-Eggitt. "Autosomal recessive cerebellar hypoplasia." Pediatric Neurology 9, no. 3 (May 1993): 247. http://dx.doi.org/10.1016/0887-8994(93)90096-u.

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14

Boltshauser, Eugen, Thierry Deonna, Bernhard Schmitt, Ernst Martin, Markus Schmid, and Georg Eich. "Unilateral cerebellar aplasia/hypoplasia." Pediatric Neurology 11, no. 2 (September 1994): 178. http://dx.doi.org/10.1016/0887-8994(94)90503-7.

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15

Madhubala, B., Rajeswaran Rangasami, and Rajoo Ramachandran. "Fetal Unilateral Cerebellar Hypoplasia." Neurology India 70, no. 5 (2022): 2324. http://dx.doi.org/10.4103/0028-3886.359198.

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16

Sarnat, Harvey B., Denis R. Benjamin, Joseph R. Siebert, Gad B. Kletter, and Sarah R. Cheyette. "Agenesis of the Mesencephalon and Metencephalon with Cerebellar Hypoplasia: Putative Mutation in the EN2 Gene—Report of 2 Cases in Early Infancy." Pediatric and Developmental Pathology 5, no. 1 (January 2002): 54–68. http://dx.doi.org/10.1007/s10024-001-0103-5.

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Congenital absence of the midbrain and upper pons is a rare human malformation. We describe two unrelated infants with this anomaly and cerebellar hypoplasia who were born at term but died in early infancy from lack of central respiratory drive. MRI in both cases disclosed the lesions during life. Neuropathological examination, performed in one, included immunocytochemical studies of NeuN, synaptophysin, vimentin, and glial fibrillary acidic protein (GFAP). Autopsy revealed a thin midline cord passing through the clivus, in place of the mid-brain; it corresponded to hypoplastic and fused corticospinal tracts with ectopic neural tissue in the surrounding leptomeninges. Some ectopia were immunoreactive for synaptophysin and NeuN and others were nonreactive. The neural surfaces facing the subarachnoid fluid-filled space left by the absent midbrain and upper pons were lined by an abnormal villous ependyma. The architecture of the cerebellar cortex was imperfect but generally normal, and Bergmann glial cells had normal radial processes shown by vimentin and GFAP. Structures of the telencephalon, diencephalon, lower brainstem, and spinal cord were generally well formed, but inferior olivary and dentate nuclei were rudimentary and the spinal central canal was dilated at lumbar levels. The cerebral cortex was normally laminated, but pyramidal neurons of layer 5 were sparse in the frontal lobes. The hippocampus, olfactory system, and corpus callosum were formed. An ectopic lingual thyroid was found and had been associated with hypothyroidism during life. A murine model resembling this dysgenesis is demonstrated by homozygous mutations of the organizer genes Wnt1 or En1, also resulting in cerebellar aplasia, and En2, associated with cerebellar hypoplasia. These genes are essential to the formation of the mesencephalic neuromere and rhombomere 1 (metencephalon or upper pons and cerebellum). Pax8 has binding sites in the promoter for En2 and is essential for thyroid development. We speculate that in the human, the failure to form a mesencephalon and metencephalon, with cerebellar hypoplasia, results from a mutation or deletion in the EN2 ( Engrailed-2) gene.

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17

Accogli, Andrea, Nassima Addour-Boudrahem, and Myriam Srour. "Diagnostic Approach to Cerebellar Hypoplasia." Cerebellum 20, no. 4 (February 3, 2021): 631–58. http://dx.doi.org/10.1007/s12311-020-01224-5.

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18

Millichap, J. Gordon. "Menkes’ Syndrome with Cerebellar Hypoplasia." Pediatric Neurology Briefs 11, no. 2 (February 1, 1997): 15. http://dx.doi.org/10.15844/pedneurbriefs-11-2-11.

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19

Wichman, Alison, L. Matthew Frank, and Thaddeus E. Kelly. "Autosomal recessive congenital cerebellar hypoplasia." Clinical Genetics 27, no. 4 (June 28, 2008): 373–82. http://dx.doi.org/10.1111/j.1399-0004.1985.tb02279.x.

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20

Robins, J. B., G. C. Mason, J. Watters, and D. Martinez. "Case report: cerebellar hemi-hypoplasia." Prenatal Diagnosis 18, no. 2 (February 1998): 173–77. http://dx.doi.org/10.1002/(sici)1097-0223(199802)18:2<173::aid-pd227>3.0.co;2-a.

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21

Deepika, G., Chaitali R. Raghoji, R. C. Ashwini, and G. Guruprasad. "A case of Ritscher-Schinzel syndrome or 3C syndrome." International Journal of Contemporary Pediatrics 4, no. 3 (April 25, 2017): 1122. http://dx.doi.org/10.18203/2349-3291.ijcp20171742.

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Ritscher Schinzel syndrome or cranio-cerebello-cardiac syndrome is characterized by cardiac defects, cerebellar hypoplasia and cranial defects. It is usually inherited as autosomal recessive pattern involving chromosome 8q24. the overall prognosis vary widely and it correlates with the cardiac disease present.

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22

Rad, Abolfazl, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N. James, Ahmet Okay Çağlayan, Maryam Najafi, et al. "MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)." Journal of Medical Genetics 56, no. 5 (November 28, 2018): 332–39. http://dx.doi.org/10.1136/jmedgenet-2018-105623.

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BackgroundPutative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs.ObjectiveA homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families.ResultsWe identified four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly.ConclusionThis report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis.

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23

Uggetti, C. "Anomalie di sviluppo emisferiche e vermiane." Rivista di Neuroradiologia 16, no. 3 (June 2003): 359–64. http://dx.doi.org/10.1177/197140090301600306.

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Many classifications of cerebellar abnormalities have been proposed based on neuroradiological criteria, but they are all inadequate for the purposes of etiopathogenetic assessment. Magnetic resonance gives an excellent evaluation of cerebellar structures and will establish whether there are volumetric changes with a substantially preserved normal morphology or morphological disruption of the cerebellar structures. Morphological changes comprise diffuse or focal, hemispheric or vermian abnormaities with or without abnormalities of the posterior cranial fossa or other brain structures. Ruling out developmental abnormalities characterized by cystic malformations or cortical dysplasia, this paper discusses non-cystic paleocerebellar (vermian) malformations and volumetric changes in the cerebellum (aplasia/hypoplasia).

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24

Tago, Y., O. Katsuta, and M. Tsuchitani. "Granule cell type cerebellar hypoplasia in a beagle dog." Laboratory Animals 27, no. 2 (April 1, 1993): 151–55. http://dx.doi.org/10.1258/002367793780810324.

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Cerebellar hypoplasia characterized by severe depletion of granule cells and almost intact Purkinje cells was found in a male 19-month-old beagle dog used in a toxicity study. Microscopically, there was a narrow space lacking granule cells between the row of Purkinje cells and the medulla. Gliosis was not seen in any portion of the cerebellum including this space. No significant changes were seen in the Purkinje cells except for occasional cytoplasmic vacuolation. In the molecular layer and medulla, no histopathological abnormalities were observed.

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25

Santos, Bianca Lemos dos, Maria Cecília Florisbal Damé, Ana Carolina Barreto Coelho, Plínio Aguiar Oliveira, Clairton Marcolongo-Pereira, and Ana Lucia Schild. "Lissencephaly-pachygyria and cerebellar hypoplasia in a calf." Ciência Rural 46, no. 9 (September 2016): 1622–28. http://dx.doi.org/10.1590/0103-8478cr20151572.

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ABSTRACT: A case of lissencephaly-pachygyria and cerebellar hypoplasia diagnosed in a Charolais x Tabapuã calf is described. The calf presented since birth, clinical signs characterized by apathy, prolonged recumbency, tremors of the head and neck, ataxia, hypermetria, difficulty walking, blindness and swelling of the joints of the four limbs. Due to the unfavorable prognosis, the animal was euthanized and necropsied at 34 days of age. At necropsy, a rudimentary development of the brain folds (gyri) and grooves (sulci) was observed, and the cerebellum was hypoplastic. The cut surface of the brain exhibited thickening of the gray matter (pachygyria) in the frontal, parietal, temporal and occipital cortices and narrowing of the white matter. In the organs of the thoracic and abdominal cavities, no significant lesions were observed. Histologically, cerebral cortex was thick and exhibited neuronal disorganization of the gray matter. The cerebellum had a thin molecular layer, and neuronal disorganization with ectopia of the Purkinje neurons in the region of the granular and molecular layers. There were no bacterial growths in cultures of joint swabs. This was the only case on the property, which suggests that this malformation, which has not previously been described in cattle, was a sporadic case, and it was not possible to determine its cause. Neurological lesions and clinical sings presented here should be considered in the differential diagnosis of congenital diseases of the central nervous systems of cattle.

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26

Giffoni, Silvyo David Araújo, Vanda Maria Gimenes Gonçalves, Verônica Araújo Zanardi, and Vera Lucia Gil-da-Silva-Lopes. "Cerebellar Involvement in Midline Facial Defects with Ocular Hypertelorism." Cleft Palate-Craniofacial Journal 43, no. 4 (July 2006): 466–70. http://dx.doi.org/10.1597/04-179.1.

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Objective Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism. Methods After a clinical genetics evaluation, the individuals were divided into two groups: 12 isolated cases (group 1) and 12 associated with multiple congenital anomalies (group 2). The investigation protocol included medical and family history, as well as dysmorphological, neurological, and neuroradiological evaluations by magnetic resonance imaging or computed tomography scan. Results Because there was no significant difference concerning the neurological aspects of groups 1 and 2, they were analyzed together. Mild hypotonia (24 of 24), abnormalities in cranial shape (24 of 24), cranial nerves (19 of 24), motor coordination (18 of 24), dynamic equilibrium (14 of 24), and language problems (8 of 24) were noted. Measurements of the posterior fossa showed hypoplastic cerebellar vermis (8 of 17), the cerebellum at lower normality limits (5 of 17), and signs of cerebellar hypoplasia (3 of 7). Conclusion This study clearly demonstrates the presence of structural and functional neurological abnormalities related to midline facial defects with ocular hypertelorism, as well as involvement of the cerebellum. It provides a basis for future investigation of midline facial defects with ocular hypertelorism and should be considered during planning of rehabilitation treatment.

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27

KASHIWAMATA, Shigeo, Hiroomi KEINO, Hiroshi SATO, Sachiko AONO, Reiji SEMBA, and Eiko AOKI. "Cerebellar Hypoplasia in Jaundiced Gunn Rats." Proceedings of The Japanese Association of Animal Models for Human Diseases 1 (1985): 28–34. http://dx.doi.org/10.1538/expanim1985.1.28.

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28

PORETTI, ANDREA, CATHERINE LIMPEROPOULOS, ELIANE ROULET-PEREZ, NICOLE I. WOLF, CHRISTIAN RAUSCHER, DANIELA PRAYER, ANITA MÜLLER, et al. "Outcome of severe unilateral cerebellar hypoplasia." Developmental Medicine & Child Neurology 52, no. 8 (October 23, 2009): 718–24. http://dx.doi.org/10.1111/j.1469-8749.2009.03522.x.

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29

McCollom, Deborah, and John Rashidian. "Prenatal Diagnosis of Unilateral Cerebellar Hypoplasia." Journal of Diagnostic Medical Sonography 19, no. 2 (March 2003): 120–23. http://dx.doi.org/10.1177/8756479303251089.

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30

Harbord, M. G., J. P. Finn, M. A. Hall-Craggs, E. M. Brett, and M. Baraitser. "Moebius' syndrome with unilateral cerebellar hypoplasia." Journal of Medical Genetics 26, no. 9 (September 1, 1989): 579–82. http://dx.doi.org/10.1136/jmg.26.9.579.

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31

Wassmer, Evangeline, Paul Davies, William P. Whitehouse, and Stuart H. Green. "Clinical spectrum associated with cerebellar hypoplasia." Pediatric Neurology 28, no. 5 (May 2003): 347–51. http://dx.doi.org/10.1016/s0887-8994(03)00016-x.

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32

Abs, Roger, Elisabeth Van Vleymen, Paul M. Parizel, Kristien Van Acker, Manou Martin, and Jean-Jacques Martin. "Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism." Journal of the Neurological Sciences 98, no. 2-3 (September 1990): 259–65. http://dx.doi.org/10.1016/0022-510x(90)90267-q.

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33

Shahwan, S. A. Al, G. W. Bruyn, and S. M. Al Deeb. "Non-progressive familial congenital cerebellar hypoplasia." Journal of the Neurological Sciences 128, no. 1 (January 1995): 71–77. http://dx.doi.org/10.1016/0022-510x(94)00209-7.

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34

Lincke, C., C. van den Bogert, L. Nijtmans, R. Wanders, P. Tamminga, and P. Barth. "Cerebellar Hypoplasia in Respiratory Chain Dysfunction." Neuropediatrics 27, no. 04 (August 1996): 216–18. http://dx.doi.org/10.1055/s-2007-973792.

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35

Weinberg, Arthur G., and Joel B. Kirkpatrick. "Cerebellar Hypoplasia in Werdnig-Hoffmann Disease." Developmental Medicine & Child Neurology 17, no. 4 (November 12, 2008): 511–16. http://dx.doi.org/10.1111/j.1469-8749.1975.tb03503.x.

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36

Min-Tzu, Yang, Chen Chao-Huei, Shian Wen-Jye, and Chi Ching-Shiang. "Cerebellar hypoplasia in infants and children." Pediatric Neurology 11, no. 2 (September 1994): 143. http://dx.doi.org/10.1016/0887-8994(94)90370-0.

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37

Alshiek, J., T. Bezzer, L. Ben-Sira, K. K. Haratz, D. Kidron, D. Lev, Z. Leibovitz, T. Lerman-Sagie, and G. Malinger. "OP06.06: Prenatal diagnosis of cerebellar hypoplasia." Ultrasound in Obstetrics & Gynecology 46 (September 2015): 69. http://dx.doi.org/10.1002/uog.15155.

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38

Wünschmann, Arno, Robert Lopez-Astacio, Anibal G. Armien, and Colin R. Parrish. "Cerebellar hypoplasia and dysplasia in a juvenile raccoon with parvoviral infection." Journal of Veterinary Diagnostic Investigation 32, no. 3 (May 2020): 463–66. http://dx.doi.org/10.1177/1040638720912229.

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A juvenile raccoon ( Procyon lotor) was submitted dead to the Minnesota Veterinary Diagnostic Laboratory for rabies testing without history. The animal had marked hypoplasia of the cerebellum. Histology demonstrated that most folia lacked granule cells and had randomly misplaced Purkinje cells. Immunohistochemistry revealed the presence of parvoviral antigen in a few neurons and cell processes. PCR targeting feline and canine parvovirus yielded a positive signal. Sequencing analyses from a fragment of the nonstructural protein 1 ( NS1) gene and a portion of the viral capsid protein 2 ( VP2) gene confirmed the presence of DNA of a recent canine parvovirus variant (CPV-2a–like virus) in the cerebellum. Our study provides evidence that (canine) parvovirus may be associated with cerebellar hypoplasia and dysplasia in raccoons, similar to the disease that occurs naturally and has been reproduced experimentally by feline parvoviral infection of pregnant cats, with subsequent intrauterine or neonatal infections of the offspring.

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Prange, Lyndsey, Milton Pratt, Kristin Herman, Raphael Schiffmann, David M. Mueller, Melissa McLean, Mary Moya Mendez, et al. "D-DEMØ, a distinct phenotype caused by ATP1A3 mutations." Neurology Genetics 6, no. 5 (August 4, 2020): e466. http://dx.doi.org/10.1212/nxg.0000000000000466.

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ObjectiveTo describe a phenotype caused by ATP1A3 mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø) (D-DEMØ), and neonatal onset.MethodsReview and analysis of clinical and genetic data.ResultsPatients shared the above traits and had whole-exome sequencing that showed de novo variants of the ATP1A3 gene, predicted to be disease causing and occurring in regions of the protein critical for pump function. Patient 1 (c.1079C>G, p.Thr360Arg), an 8-year-old girl, presented on day 1 of life with episodic dystonia, complex partial seizures, and facial dysmorphism. MRI of the brain revealed cerebellar hypoplasia. Patient 2 (c.420G>T, p.Gln140His), an 18-year-old man, presented on day 1 of life with hypotonia, tremor, and facial dysmorphism. He later developed dystonia. MRI of the brain revealed cerebellar hypoplasia and, later, further cerebellar volume loss (atrophy). Patient 3 (c.974G>A, Gly325Asp), a 13-year-old girl, presented on day 1 of life with tremor, episodic dystonia, and facial dysmorphism. MRI of the brain showed severe cerebellar hypoplasia. Patient 4 (c.971A>G, p.Glu324Gly), a 14-year-old boy, presented on day 1 of life with tremor, hypotonia, dystonia, nystagmus, facial dysmorphism, and later seizures. MRI of the brain revealed moderate cerebellar hypoplasia.ConclusionsD-DEMØ represents an ATP1A3-related phenotype, the observation of which should trigger investigation for ATP1A3 mutations. Our findings, and the presence of multiple distinct ATP1A3-related phenotypes, support the possibility that there are differences in the underlying mechanisms.

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Lee, K., H. Furuoka, N. Sasaki, M. Ishii, H. Inokuma, and K. Yamada. " Congenital porencephaly with cerebellar hypoplasia in a Holstein calf: a case report." Veterinární Medicína 56, No. 6 (July 19, 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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Banda, Mickey, Caswell Hachabizwa, Joseph Hainza, Sikhanyiso Mutemwa, and Krikor Erzingastian. "Anatomical variations of the superior cerebellar artery: A cadaveric study at the University Teaching Hospitals, Lusaka, Zambia." Anatomy Journal of Africa 9, no. 2 (August 21, 2020): 1789–96. http://dx.doi.org/10.4314/aja.v9i2.198925.

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The superior cerebellar artery usually arises from the terminal end of the basilar artery. It may also originate from the posterior cerebral artery and or from a common trunk with the posterior cerebral artery. The anatomical variations of superior cerebellar artery show ethnic differences, but there are few reports on African populations in particular none from Zambia. Variations of the superior cerebellar artery might cause compression symptoms of cranial nerves III, IV and V. Furthermore, the presence of such variations has been considered to be a factor in the aetiology of aneurysms and thrombus formation leading to cerebellar infarcts. The objectives of the study were to explore anatomical variations on the origin of the superior cerebellar artery; to measure the outer diameter at its origin and the length of superior cerebellar artery to its first bifurcation; to establish the presence of duplication , triplication , hypoplasia , agenesis , fenestration and any other anomalies that were detectable. This was a descriptive cross-sectional study in which 46 post-mortem human cadaveric brains were systematically sampled. A total of 113 superior cerebellar arteries were identified in 42 male and four female cadavers of age ranging between 18 and 65 years (mean 34.05±9.237mm). Superior cerebellar artery arose from the basilar artery as a single vessel in 49.5%, the common trunk arose in 6.2% and posterior cerebral artery origin was seen in 5.7%. Overall duplication of the superior cerebellar artery was seen in 35.5% and triplication in 5.3%. Nineteen (16.8%) of the superior cerebellar arteries were hypoplastic (less than 1mm) and ninety-four (83.2%) were normal. The diameter of the superior cerebellar artery at its origin ranged 0.25mm to 2.48mm (mean 1.42±0.54mm). The length of the superior cerebellar artery to its first bifurcation ranged from 3.77mm to 33.53mm (mean 21.92±7.40mm). Statistically, gender had no significant association of superior cerebellar artery variations (p>0.05). This knowledge will improvediagnosis and management of patients with vascular disorders of the posterior circulation. The newly identified patterns could be a contribution to the SCA classification system. Key words: Superior cerebellar artery, duplication, triplication and hypoplasia

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Haldipur, Parthiv, Kimberly A. Aldinger, Silvia Bernardo, Mei Deng, Andrew E. Timms, Lynne M. Overman, Conrad Winter, et al. "Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum." Science 366, no. 6464 (October 17, 2019): 454–60. http://dx.doi.org/10.1126/science.aax7526.

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We present histological and molecular analyses of the developing human cerebellum from 30 days after conception to 9 months after birth. Differences in developmental patterns between humans and mice include spatiotemporal expansion of both ventricular and rhombic lip primary progenitor zones to include subventricular zones containing basal progenitors. The human rhombic lip persists longer through cerebellar development than in the mouse and undergoes morphological changes to form a progenitor pool in the posterior lobule, which is not seen in other organisms, not even in the nonhuman primate the macaque. Disruptions in human rhombic lip development are associated with posterior cerebellar vermis hypoplasia and Dandy-Walker malformation. The presence of these species-specific neural progenitor populations refines our insight into human cerebellar developmental disorders.

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BRUCK, ISAC, SÉRGIO A. ANTONIUK, ARNOLFO DE CARVALHO NETO, and ADRIANE SPESSATTO. "Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings." Arquivos de Neuro-Psiquiatria 58, no. 3B (September 2000): 897–900. http://dx.doi.org/10.1590/s0004-282x2000000500016.

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We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics.

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Kotani, Osamu, Tadaki Suzuki, Masaru Yokoyama, Naoko Iwata-Yoshikawa, Noriko Nakajima, Hironori Sato, Hideki Hasegawa, Fumihiro Taguchi, Hiroyuki Shimizu, and Noriyo Nagata. "Intracerebral Inoculation of Mouse-Passaged Saffold Virus Type 3 Affects Cerebellar Development in Neonatal Mice." Journal of Virology 90, no. 21 (August 31, 2016): 10007–21. http://dx.doi.org/10.1128/jvi.00864-16.

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ABSTRACTSaffold virus (SAFV), a human cardiovirus, is occasionally detected in infants with neurological disorders, including meningitis and cerebellitis. We recently reported that SAFV type 3 isolates infect cerebellar glial cells, but not large neurons, in mice. However, the impact of this infection remained unclear. Here, we determined the neuropathogenesis of SAFV type 3 in the cerebella of neonatal ddY mice by using SAFV passaged in the cerebella of neonatal BALB/c mice. The virus titer in the cerebellum increased following the inoculation of each of five passaged strains. The fifth passaged strain harbored amino acid substitutions in the VP2 (H160R and Q239R) and VP3 (K62M) capsid proteins. Molecular modeling of the capsid proteins suggested that the VP2-H160R and VP3-K62M mutations alter the structural dynamics of the receptor binding surface via the formation of a novel hydrophobic interaction between the VP2 puff B and VP3 knob regions. Compared with the original strain, the passaged strain showed altered growth characteristics in human-derived astroglial cell lines and greater replication in the brains of neonatal mice. In addition, the passaged strain was more neurovirulent than the original strain, while both strains infected astroglial and neural progenitor cells in the mouse brain. Intracerebral inoculation of either the original or the passaged strain affected brain Purkinje cell dendrites, and a high titer of the passaged strain induced cerebellar hypoplasia in neonatal mice. Thus, infection by mouse-passaged SAFV affected cerebellar development in neonatal mice. This animal model contributes to the understanding of the neuropathogenicity of SAFV infections in infants.IMPORTANCESaffold virus (SAFV) is a candidate neuropathogenic agent in infants and children, but the neuropathogenicity of the virus has not been fully elucidated. Recently, we evaluated the pathogenicity of two clinical SAFV isolates in mice. Similar to other neurotropic picornaviruses, these isolates showed mild infectivity of glial and neural progenitor cells, but not of large neurons, in the cerebellum. However, the outcome of this viral infection in the cerebellum has not been clarified. Here, we examined the tropism of SAFV in the cerebellum. We obtained anin vivo-passaged strain from the cerebella of neonatal mice and examined its genome and its neurovirulence in the neonatal mouse brain. The passaged virus showed high infectivity and neurovirulence in the brain, especially the cerebellum, and affected cerebellar development. This unique neonatal mouse model will be helpful for elucidating the neuropathogenesis of SAFV infections occurring early in life.

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Millichap, J. Gordon. "Cerebellar Vermis Hypoplasia in Fragile X Syndrome." Pediatric Neurology Briefs 12, no. 2 (February 1, 1998): 9. http://dx.doi.org/10.15844/pedneurbriefs-12-2-1.

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Lim, Ji-Hey, Dae-Yong Kim, Jung-hee Yoon, Wan Hee Kim, and Oh-kyeong Kweon. "Cerebellar vermian hypoplasia in a Cocker Spaniel." Journal of Veterinary Science 9, no. 2 (2008): 215. http://dx.doi.org/10.4142/jvs.2008.9.2.215.

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47

Seller, Mary J., Kalyani Pal, G. Moscoso, K. Nicolaides, and J. A. Hyett. "Cerebellar hypoplasia, facial dysmorphism and internal abnormalities." Clinical Dysmorphology 7, no. 1 (January 1998): 41???44. http://dx.doi.org/10.1097/00019605-199801000-00007.

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Courchesne, Eric, Osamu Saitoh, JeanneP Townsend, Rachel Yeung-Courchesne, GaryA Press, AlanJ Lincoln, RichardH Haas, and Laura Schreibman. "Cerebellar hypoplasia and hyperplasia in infantile autism." Lancet 343, no. 8888 (January 1994): 63–64. http://dx.doi.org/10.1016/s0140-6736(94)90923-7.

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Bulakbasi, N. "MRI features of lissencephaly with cerebellar hypoplasia." CMIG Extra: Cases 28, no. 1 (January 2004): 4–7. http://dx.doi.org/10.1016/j.compmedimag.2003.09.004.

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Pascual-Castroviejo, I., M. Gutierrez, C. Morales Bastos, I. Gonzalez Mediero, A. Martinez Bermejo, and J. Arcas Madrid. "Congenital cerebellar hypoplasia with granular cell atrophy." Pediatric Neurology 8, no. 5 (September 1992): 364. http://dx.doi.org/10.1016/0887-8994(92)90164-t.

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