TY - JOUR
T1 - Familial Chiari type I malformation with syringomyelia in two siblings
T2 - Case report and review of the literature
AU - Mavinkurve, Gaurav G.
AU - Sciubba, Daniel
AU - Amundson, Eric
AU - Jallo, George I.
PY - 2005/11
Y1 - 2005/11
N2 - 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.
AB - 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.
KW - Chiari type I malformation
KW - Familial aggregation
KW - Genetic basis
KW - Syringomyelia
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U2 - 10.1007/s00381-005-1146-0
DO - 10.1007/s00381-005-1146-0
M3 - Review article
C2 - 15821947
AN - SCOPUS:27744548617
SN - 0256-7040
VL - 21
SP - 955
EP - 959
JO - Child's Nervous System
JF - Child's Nervous System
IS - 11
ER -