Document Details

Document Type : Article In Journal 
Document Title :
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family
 
Document Language : English 
Abstract : Congenital insensitivity to painwith 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. 
ISSN : 0022-510X 
Journal Name : NTRK1 CIPA HSAN type IV Autosomal recessive disorder Saudi family 
Volume : 370 
Issue Number : 1 
Publishing Year : 1437 AH
2016 AD 
Article Type : Article 
Added Date : Thursday, July 20, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Hussein AlgahtaniAlgahtani, Hussein ResearcherDoctorate 
Muhammad Imran NaseerNaseer, Muhammad ImranResearcherDoctorate 
Mohammad Al-QahtaniAl-Qahtani, Mohammad ResearcherDoctorate 
Shireen Abubakr AbdulrahmanAbdulrahman, Shireen AbubakrResearcherDoctorate 
Faisal BokerBoker, Faisal ResearcherDoctorate 
Bader ShirahShirah, Bader ResearcherDoctorate 

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