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Congenital Insensitivity to Pain: A Case Study of a Rare Genetic Disorder

Overview
Journal Cureus
Specialty Biomedical Engineering
Date 2024 Oct 15
PMID 39403642
Authors
Nurhan N Al-Hroub
Alaa A Al-Salahat
Manwa A Taamreh
Fawzy M Abunejma
Osama N Dukmak
Affiliations
Soon will be listed here.
Abstract

Congenital insensitivity to pain (CIP) is an exceedingly rare autosomal recessive condition caused by Nav1.7 loss-of-function mutations. We present a case of a patient with clinical symptoms compatible with CIP who had a homozygous probable pathogenic variation, which results in a premature stop codon. According to the recommendations of the American College of Medical Genetics and Genomics, it is classified as probable pathogenic (class 2). Early detection and treatment may aid in reducing mortality and morbidity as the signs and symptoms of CIP with dysmorphic features manifest early, typically at birth or during infancy. However, with careful medical attention, affected individuals can have longer life expectancies.

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