Chiari in the family: inheritance of the Chiari I malformation.
This report presents three families with Chiari malformation type I that became symptomatic during childhood: a mother and son; a set of monozygotic twins; and two half-siblings and their two maternal cousins. These children presented with various symptoms, including headache, stiff neck, and swallowing difficulty. A review of the relevant literature is presented, with an emphasis on familial examples and proposed inheritance. Less common presentations of Chiari malformation type I are discussed, as well as the possible pathogenesis of Chiari malformation type I and associated syringomyelia.
Szewka
Aimee J
AJ
Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Walsh
Laurence E
LE
Boaz
Joel C
JC
Carvalho
Karen S
KS
Golomb
Meredith R
MR
D000328:Adult; D001139:Arnold-Chiari Malformation / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002648:Child; D004200:Diseases in Twins / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D010375:Pedigree; D014430:Twins, Monozygotic