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.
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