Document Detail

Leber congenital amaurosis associated with Chiari I malformation: Two cases and a review of the literature.
MedLine Citation:
PMID:  22347674     Owner:  NLM     Status:  PubMed-not-MEDLINE    
OBJECTIVE: Leber congenital amaurosis (LCA) is a rare, clinically and genetically heterogeneous disorder characterized by severe loss of vision in the first year of life, affecting approximately 3000 people in the United States. Some LCA patients manifest developmental abnormalities of the central nervous system (CNS) and neuroradiological studies have revealed a variety of cerebral anomalies in association with LCA; however, Chiari I malformations (CMI) have never been described.
CASE DESCRIPTION: We report two sisters who were referred to the pediatric neurosurgery clinic for evaluation of CMI. The elder sister presented with convergence nystagmus from 3 months of age and magnetic resonance imaging (MRI) demonstrated evidence of significant CMI. Her younger sister began developing nystagmus at 4 months of age. Both had symptomatic progression and underwent suboccipital decompression. Both were subsequently diagnosed with LCA. Case specifics and imaging findings are presented.
CONCLUSIONS: CMI have been found in association with several genetic syndromes, but not with LCA. These patients represent the first reported cases of CMI with LCA and suggest an additional potential CNS anomaly. The unique occurrence in siblings and the association with another inherited disorder are suggestive of a genetic basis for CMI.
Anthony L Petraglia; Harris U Chengazi; Mina M Chung; Howard J Silberstein
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Publication Detail:
Type:  Journal Article     Date:  2012-01-21
Journal Detail:
Title:  Surgical neurology international     Volume:  3     ISSN:  2152-7806     ISO Abbreviation:  Surg Neurol Int     Publication Date:  2012  
Date Detail:
Created Date:  2012-02-20     Completed Date:  2012-10-02     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  101535836     Medline TA:  Surg Neurol Int     Country:  India    
Other Details:
Languages:  eng     Pagination:  4     Citation Subset:  -    
Department of Neurosurgery, University of Rochester Medical Center, Rochester, NY, USA.
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