title: Familial primary carpal tunnel syndrome with possible skipped generation.
abstract: Carpal tunnel syndrome, an entrapment neuropathy of the median nerve, is rarely seen in childhood. Familial carpal tunnel syndrome, an even more exceptional entity, is frequently associated with inherited systemic disorders. Rarely it can be presented as a primary familial form with Mendelian autosomal dominant inheritance. We report the occurrence of carpal tunnel syndrome in two generations of a family in which the index case was a 6-year-old boy with bilateral hand pain and paresthesias. Our report demonstrates an interesting inheritance pattern of carpal tunnel syndrome in a family transmitted by an autosomal dominant gene with variable expressivity and reduced penetrance. To our knowledge, it is the first report of familial bilateral carpal tunnel syndrome in a family with possible skipped generation.
authors.affiliation: Department of Pediatrics, Dr. Sami Ulus Children's Health and Diseases Training and Research Hospital, Ankara, Turkey. drsaliha007@yahoo.com.tr
authors.forename: Saliha
authors.initials: S
authors.lastname: Senel
authors.forename: Gulay
authors.initials: G
authors.lastname: Ceylaner
authors.forename: Deniz
authors.initials: D
authors.lastname: Yuksel
authors.forename: Nilgun
authors.initials: N
authors.lastname: Erkek
authors.forename: Candemir
authors.initials: C
authors.lastname: Karacan
mesh_terms: D002349:Carpal Tunnel Syndrome / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000503:physiopathology