Evidence of posterior fossa hypoplasia in the familial variant of adult Chiari I malformation: Case report

John L.D. Atkinson, Emre Kokmen, Gary M. Miller

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

OBJECTIVE AND IMPORTANCE: A case of familial Chiari I malformation and a review of the literature are presented. Recent posterior fossa morphological studies suggest that the sporadic variant of adult Chiari I malformation may be caused by occipital dysplasia and overcrowding of posterior fossa contents. This analysis was applied retrospectively for two of the three members of this familial variant. CLINICAL PRESENTATION: A family is described in which symptomatic Chiari I malformation occurred in two generations: monozygotic twin sisters and the daughter of one sister. The monozygotic twins developed symptoms within I year of each other, and both had associated syringomyelia. The daughter of one of the twins presented with symptomatic tonsillar herniation alone at a young age. INTERVENTION: All three family members underwent surgical decompression of the craniovertebral junction, with or without syringosubarachnoid shunting, with good results. CONCLUSION: Cases of familial Chiari I malformation are rare, although they are probably under-reported. An evaluation of posterior fossa morphology in these patients suggests that occipital dysplasia and overcrowding of posterior fossa contents may be the substrate for both familial and sporadic cases of Chiari I malformation and suggests a unifying concept of origin.

Original languageEnglish (US)
Pages (from-to)401-404
Number of pages4
JournalNeurosurgery
Volume42
Issue number2
DOIs
StatePublished - Feb 1998

Keywords

  • Chiari I malformation
  • Cranial base
  • Familial syndromes
  • Occipital bone
  • Posterior cranial fossa
  • Skull base

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology

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