Document Detail

Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature.
MedLine Citation:
PMID:  15821947     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Familial cases of Chiari malformation with syringomyelia are rare. The majority of the reported series and case reports detail sporadic cases. The authors report two siblings who presented with Chiari type I malformation and syringomyelia (CMI+S). CLINICAL PRESENTATION: We report two sisters who each presented with scoliosis on routine school physicals. Their clinical examination was unremarkable; however, imaging studies demonstrated a Chiari malformation with syringomyelia. Both underwent cervicomedullary decompression, and follow-up imaging studies revealed resolution of the syringomyelia. CONCLUSION: A review of the literature reveals fewer than ten previous reports of familial CMI+S in the past 30 years. Although rare, the existence of familial cases of CMI+S suggests a genetic component to the pathogenesis of this condition in at least a proportion of patients. Neurosurgeons should be aware of the familial aggregation of CMI+S.
Gaurav G Mavinkurve; Daniel Sciubba; Eric Amundson; George I Jallo
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2005-04-09
Journal Detail:
Title:  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery     Volume:  21     ISSN:  0256-7040     ISO Abbreviation:  Childs Nerv Syst     Publication Date:  2005 Nov 
Date Detail:
Created Date:  2005-10-21     Completed Date:  2006-04-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8503227     Medline TA:  Childs Nerv Syst     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  955-9     Citation Subset:  IM    
Division of Pediatric Neurosurgery, Johns Hopkins Hospital, Harvey 811, Baltimore, MD 21287, USA.
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MeSH Terms
Arnold-Chiari Malformation / diagnosis,  genetics*,  surgery
Cervical Vertebrae / pathology,  surgery
Decompression, Surgical
Mass Screening
Scoliosis / diagnosis,  genetics,  surgery
Spinal Cord Compression / diagnosis,  genetics*,  surgery
Syringomyelia / diagnosis,  genetics*,  surgery

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