Familial primary carpal tunnel syndrome with possible skipped generation

SENEL S., CEYLANER G., YUKSEL D., Erkek N., KARACAN C. D.

EUROPEAN JOURNAL OF PEDIATRICS, vol.169, no.4, pp.453-455, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 169 Issue: 4
  • Publication Date: 2010
  • Doi Number: 10.1007/s00431-009-1055-4
  • Journal Name: EUROPEAN JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.453-455
  • Keywords: Carpal tunnel syndrome, Familial carpal tunnel syndrome, Median nerve, Children, CHILDHOOD
  • Akdeniz University Affiliated: No

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.