November 1979

Congenital Insensitivity to Pain With AnhydrosisReport of a Family and Review of Literature With Reference to Immune Deficiency

Author Affiliations

From the Department of Pediatrics, Barzilai Medical Centre (Drs Vardy and Kachel), Ashkelon, Israel, and the Alyn Orthopedic Hospital for Children (Drs Greenberg and Falewski de Leon), Jerusalem, Israel.

Am J Dis Child. 1979;133(11):1153-1155. doi:10.1001/archpedi.1979.02130110061011

• Congenital indifference to pain with anhydrosis (CIPA) is a well-defined entity among a group of sensory deficiency syndromes. Children with this genetic disease are insensitive to pain and temperature and do not sweat and suffer from psychomotor retardation. Self-inflicted trauma may be severe and lead to insoluble orthopedic problems. To date, 11 cases have been reported. We have reviewed the literature and are describing two girls with CIPA, born to consanguine Jewish parents of Moroccan origin. Immunoglobulin deficiency has been reported in CIPA but an immunologic investigation on one of our cases showed only an early and transient deficiency of IgA. The presence in the family of a brother with ataxia telangiectasia and complete absence of IgA would seem to be irrelevant and it seems probable that the parents are heterozygotic for two disparate autosomal recessive syndromes.

(Am J Dis Child 133:1153-1155, 1979)