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

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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.

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Authors and Affiliations

  1. Division of Pediatric Neurosurgery, Johns Hopkins Hospital, 600 North Wolfe Street, Harvey 811, Baltimore, MD, 21287, USA

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

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  1. Gaurav G. Mavinkurve
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  2. Daniel Sciubba
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  3. Eric Amundson
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  4. George I. Jallo
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Correspondence to George I. Jallo.

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Mavinkurve, G.G., Sciubba, D., Amundson, E. et al. Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature. Childs Nerv Syst 21, 955–959 (2005). https://doi.org/10.1007/s00381-005-1146-0

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