Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN type IV) is an extremely rare autosomal recessive disorder with an estimated incidence of 1 in 25,000. It was first described in 1963, and since then several case reports and review articles have been published. In this article, we report two brothers with clinical features of CIPA, who presented with recurrent episodes of hyperthermia, anhidrosis, profound loss of pain sensitivity, and unconscious self-mutilation of fingers, lip and tongue. Sanger sequencing analysis confirmed the presence of a novel mutation c.783_785delGAA in the NTRK1 gene in the two affected members of the family. Early diagnosis and management of different systemic complications including orthopedic, visual, and dental may be useful in the reduction of frequency and severity of these complications.

Keywords: Autosomal recessive disorder; CIPA; HSAN type IV; NTRK1; Saudi family.