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48 Possible Causes for Hypoplasia of the Inferior Cerebellar Vermis

  • Generalized Connective Tissue Syndrome

    TEXTBOOKS Orrico A. Marden-Walker Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:18. Jones KL, ed. Smith’s Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:220-21. Gorlin RJ, Cohen MMJr, Levin LS, eds. Syndromes of the Head and[…][rarediseases.org]

  • Dysequilibrium Syndrome

    Magnetic resonance imaging of the brain demonstrated hypoplasia of the inferior cerebellar vermis and hemispheres, small pons, and a simplified cortical sulcation pattern.[ncbi.nlm.nih.gov] […] of the inferior portion of the cerebellar vermis and hemispheres Simplified gyration of the cerebral hemispheres with minimally thickened but uniform cortex and lack of clear[ncbi.nlm.nih.gov] […] ataxia that is predominantly truncal and results in delayed ambulation Moderate-to-profound intellectual disability Dysarthria MRI findings (see Figure 1 ) that include: Hypoplasia[ncbi.nlm.nih.gov]

  • Congenital Hepatic Fibrosis

    Neurological examination showed moderate mental retardation and cerebellar ataxia. Brain MRI confirmed cerebellar malformation with inferior vermis hypoplasia.[ncbi.nlm.nih.gov] This pattern of defects is consistent with COACH syndrome (Cerebellar vermis hypoplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) which has previously[ncbi.nlm.nih.gov]

  • Isolated Congenital Breast Hypoplasia or Aplasia

    […] portion of the cerebellar vermis.[radiopaedia.org] There is usually partial vermian hypoplasia, specifically on its inferior portion.[radiopaedia.org] Isolated inferior vermian hypoplasia (IIVH), also referred as part of Dandy-Walker variant (DWV) , is a congenital malformation characterized by partial absence of the inferior[radiopaedia.org]

  • Cerebellar Hypoplasia and Atrophy

    vermis, and c-shaped inferior olivary nuclei, but PCH type 5 differs in that it causes seizure-like activity during the fetal period.[xpertdox.com] […] cell paucity more marked for the cerebellar vermis than the hemispheres.[rarediseases.org] Pontocerebellar Hypoplasia Type 5: This type resembles PCH type 4 with both types demonstrate features of severe olivopontocerebellar hypoplasia, severely affected cerebellar[xpertdox.com]

  • XYY Syndrome

    […] of left cerebellar hemisphere and vermis.[ncbi.nlm.nih.gov] In a male child with 47, XYY karyotype we describe a particular brain malformation which consisted of enlarged posterior fossa and hypoplasia of posterior and inferior regions[ncbi.nlm.nih.gov]

  • Cerebellar Ataxia - Mental Retardation - Dysequilibrium Syndrome

    Even in the original pedigree of four affected siblings, two had hypoplasia of the posterior inferior cerebellar vermis and two had complete agenesis of the cerebellar vermis[clinicalgate.com] Severe generalized cerebellar hypoplasia is a common MR imaging feature in pediatric neuroimaging. 20, 35, 37, 38 (As a general rule about size, the normal cerebellar vermis[ajnr.org] Postnatal coronal T2 image ( B ) demonstrates hypoplasia of the left cerebellar hemisphere.[ajnr.org]

  • Dandy-Walker Syndrome

    Fetal ultrasonography showed hypoplasia of the cerebellar vermis and dilatation of the fourth ventricle and was characterized by an enlarged posterior fossa.[ncbi.nlm.nih.gov] BPC), inferior posterior fossa mass effect with or without hypoplasia of both the cerebellar vermis and the medial aspects of the cerebellar hemispheres, and absence of communication[ncbi.nlm.nih.gov] Fetal magnetic resonance imaging showed inferior vermian hypoplasia and a large posterior fossa cyst communicating with the fourth ventricle causing high insertion of the[ncbi.nlm.nih.gov]

  • Mega-Cisterna Magna

    […] the hypoplasia of the inferior part to the complete agenesis.[wikidoc.org] […] primarily inferior vermian hypoplasia Varying enlargement of the fourth ventricle Normal posterior fossa volume Mega cisterna magna Normal cerebellar hemispheres and vermis[medicaljournal.blogspot.com] The classic malformation is characterized by the presence of large cistern magna, communicating with the fourth ventricle through a defect in the cerebellar vermis going from[wikidoc.org]

  • Congenital Disorder of Glycosylation Type 9

    In 1 of them (case 1), MR imaging during the neonatal period showed inferior vermis hypoplasia, progressing to diffuse cerebellar volume loss on follow-up ( Fig 2 ).[ajnr.org] At presentation, sagittal T1-weighted image ( A ) shows mild hypoplasia of the inferior vermis ( thin arrows ); the pons and superior vermis appear normal.[ajnr.org] Close scrutiny of vermian morphology revealed that, in most cases, the inferior vermis had a rudimentary, flattened appearance in the early stages, consistent with inferior[ajnr.org]

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