Title: Early Diagnosis of Congenital Insensitivity to Pain with Anhidrosis in an infant- a Case Report

Authors: Dr Pai Ashutosh A., Dr Deshmukh Isha, Dr Parween Shaista

 DOI: https://dx.doi.org/10.18535/jmscr/v8i7.23

Abstract

Congenital insensitivity to pain with anhidrosis is extremely rare form of Hereditary neuropathy .We report this 4 month old male child noticed to have fever since 10 days. Child had history of multiple visits for fever.  On examination, weak cry, good suck, dry skin, bilateral ptosis, hypotonic, unresponsive to noxious stimuli and temperature sensations with normal touch sensation, power and Deep Tendon Reflexes. All relevant blood investigations were inconclusive. Child was treated with multiple antibiotics, with no effect. Based upon the presenting clinical features and investigations, genetic testing for CIPA was done. Likely Pathogenic variant of gene identified.

Keywords: CIPA; fever; hereditary; neuropathy.

Editorial Policy

Authors should prepare their manuscripts according to the instructions given in the authors' guidelines. Manuscripts which do not ..

Read More.....

Frequency of Publication

JMSCR is published as monthly journal with 12 issues per year. Special editions are also planned subjected to the scope and need....

Read more...

Submission of Articles

Authors are invited to submit their research articles, review papers, Case Report properly formatted as per the author guidelines.........

Read more...