Literature DB >> 8677027

Unilateral cerebellar aplasia.

E Boltshauser1, M Steinlin, E Martin, T Deonna.   

Abstract

We describe three children with unilateral cerebellar aplasia (UCA). Deliveries at term and neonatal periods were uneventful. Pregnancy was normal in one and complicated by mild bleeding (in second and fourth month respectively) in two instances. Presenting signs were delayed motor development with marked contralateral torticollis (n = 1), hemiplegia (n = 1) and unusual head nodding (n = 1). Neuroradiological investigations revealed complete aplasia (n = 1) and subtotal aplasia (n = 2) of one cerebellar hemisphere with only a residual wing-like structure below the tentorium. There was contralateral underdevelopment of the brainstem. The infant with hemiplegic cerebral palsy had an additional supratentorial periventricular parenchymal defect, contralateral to the cerebellar hypoplasia. In view of literature reports, describing similar neuroradiological or neuropathological findings in asymptomatic individuals, it is doubtful whether UCA is responsible for our patient's problems. In our cases UCA has presumably resulted from a prenatal destructive lesion, possibly an infarct, but the timing and exact nature are unknown.

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Year:  1996        PMID: 8677027     DOI: 10.1055/s-2007-973748

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  7 in total

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Journal:  Pediatr Radiol       Date:  2004-08-04

2.  Redefining the Etiologic Landscape of Cerebellar Malformations.

Authors:  Kimberly A Aldinger; Andrew E Timms; Zachary Thomson; Ghayda M Mirzaa; James T Bennett; Alexander B Rosenberg; Charles M Roco; Matthew Hirano; Fatima Abidi; Parthiv Haldipur; Chi V Cheng; Sarah Collins; Kaylee Park; Jordan Zeiger; Lynne M Overmann; Fowzan S Alkuraya; Leslie G Biesecker; Stephen R Braddock; Sara Cathey; Megan T Cho; Brian H Y Chung; David B Everman; Yuri A Zarate; Julie R Jones; Charles E Schwartz; Amy Goldstein; Robert J Hopkin; Ian D Krantz; Roger L Ladda; Kathleen A Leppig; Barbara C McGillivray; Susan Sell; Katherine Wusik; Joseph G Gleeson; Deborah A Nickerson; Michael J Bamshad; Dianne Gerrelli; Steven N Lisgo; Georg Seelig; Gisele E Ishak; A James Barkovich; Cynthia J Curry; Ian A Glass; Kathleen J Millen; Dan Doherty; William B Dobyns
Journal:  Am J Hum Genet       Date:  2019-08-29       Impact factor: 11.025

3.  Unilateral cerebellar hypoplasia with different clinical features.

Authors:  Gulcin Benbir; Simay Kara; Beyza Citci Yalcinkaya; Geysu Karhkaya; Beyhan Tuysuz; Naci Kocer; Cengiz Yalcinkaya
Journal:  Cerebellum       Date:  2011-03       Impact factor: 3.847

Review 4.  MRI of the fetal posterior fossa.

Authors:  Catherine Adamsbaum; Marie Laure Moutard; Christine André; Valérie Merzoug; Solène Ferey; Marie Pierre Quéré; Fanny Lewin; Catherine Fallet-Bianco
Journal:  Pediatr Radiol       Date:  2004-11-23

Review 5.  A developmental and genetic classification for midbrain-hindbrain malformations.

Authors:  A James Barkovich; Kathleen J Millen; William B Dobyns
Journal:  Brain       Date:  2009-12       Impact factor: 13.501

6.  Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

Authors:  Kimberly A Aldinger; Nancy J Mendelsohn; Brian Hy Chung; Wenjuan Zhang; Daniel H Cohn; Bridget Fernandez; Fowzan S Alkuraya; William B Dobyns; Cynthia J Curry
Journal:  J Med Genet       Date:  2015-12-15       Impact factor: 6.318

7.  Repetitive behavior and increased activity in mice with Purkinje cell loss: a model for understanding the role of cerebellar pathology in autism.

Authors:  Loren A Martin; Dan Goldowitz; Guy Mittleman
Journal:  Eur J Neurosci       Date:  2010-01-25       Impact factor: 3.386

  7 in total

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