title: 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.
authors: King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia. Electronic address: halgahtani@hotmail.com.
authors: Hussein
authors: H
authors: Algahtani
authors: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors: Muhammad Imran
authors: MI
authors: Naseer
authors: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors: Mohammad
authors: M
authors: Al-Qahtani
authors: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors: Shireen Abubakr
authors: SA
authors: Abdulrahman
authors: King Abdullah International Medical Research Center/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
authors: Faisal
authors: F
authors: Boker
authors: King Abdullah International Medical Research Center/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
authors: Bader
authors: B
authors: Shirah
mesh_terms: D002648:Child; D042241:Early Diagnosis; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D008297:Male; D010375:Pedigree; D020917:Receptor, trkA / Q000235:genetics*; D012529:Saudi Arabia; D035781:Siblings
chemical_list: D020917:Receptor, trkA
keywords: Autosomal recessive disorder; CIPA; HSAN type IV; NTRK1; Saudi family