Document Detail


Near-total absence of the cerebellum.
MedLine Citation:
PMID:  11414645     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report five cases of near-total absence of the cerebellum with accompanying pontine hypoplasia. The cerebellar remnant in each case comprised only antero-superior masses, the posterior fossa being otherwise fluid filled. Three of these patients, two teenagers and an infant, presented a fairly consistent clinical and neuroradiological phenotype, and a few similar cases are recorded in the literature. The cerebellar remnant was irregular and asymmetrical, and no ventral pontine prominence was discernible. In at least the older two, cerebellar motor functions were not greatly compromised, and intellectual handicap was of a mild degree. We propose that these cases represent a distinct entity of "near-total absence of the cerebellum with flat ventral pons, and relatively mild clinical affection". All cases have been sporadic, implying that the risk of recurrence within a family may be low. Quite different clinical pictures, of considerably greater severity, are demonstrated in the remaining two cases. One had pontocerebellar hypoplasia type 2, while the other had a complex cerebellar and cerebral malformation.
Authors:
R J Gardner; L T Coleman; L A Mitchell; L J Smith; A S Harvey; I E Scheffer; E Storey; M J Nowotny; R A Sloane; L Lubitz
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neuropediatrics     Volume:  32     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  2001 Apr 
Date Detail:
Created Date:  2001-06-20     Completed Date:  2001-12-04     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  62-8     Citation Subset:  IM    
Affiliation:
Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia. gardner@cryptic.rch.unimelb.edu.au
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Cerebellum / abnormalities*,  pathology
Child
Child, Preschool
Developmental Disabilities / diagnosis,  genetics*
Diseases in Twins / genetics
Female
Follow-Up Studies
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging*
Male
Mental Retardation / diagnosis,  genetics*
Neurologic Examination
Pons / abnormalities,  pathology
Pregnancy
Spinocerebellar Degenerations / diagnosis,  genetics*
Twins, Dizygotic / genetics
Ultrasonography, Prenatal*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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