Familial Chiari type I malformation with syringomyelia in two siblings: Case report and review of the literature

Gaurav G. Mavinkurve, Daniel Sciubba, Eric Amundson, George I. Jallo

Research output: Contribution to journalReview article

Abstract

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.

Original languageEnglish (US)
Pages (from-to)955-959
Number of pages5
JournalChild's Nervous System
Volume21
Issue number11
DOIs
StatePublished - Nov 1 2005

Keywords

  • Chiari type I malformation
  • Familial aggregation
  • Genetic basis
  • Syringomyelia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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