Congenital Insensitivity to Pain: A Case Report and Review of the Literature

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological...

Full description

Saved in:
Bibliographic Details
Published in:Case reports in neurological medicine 2014-01, Vol.2014 (2014), p.1-4
Main Authors: Peddareddygari, Leema Reddy, Grewal, Raji P., Oberoi, Kinsi
Format: Article
Language:English
Subjects:
Case Report
Chromosomes
Deoxyribonucleic acid
DNA
Family medical history
Fractures
Genes
Genotype & phenotype
Kinases
Mutation
Pain
Studies
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot’s joints.
ISSN:2090-6668
2090-6676
DOI:10.1155/2014/141953