# Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal

## TL;DR

This paper reports the first case of a rare genetic disorder in Nepal, highlighting the importance of early diagnosis to prevent serious complications.

## Contribution

The first documented case of congenital insensitivity to pain with anhidrosis in Nepal is reported.

## Key findings

- The case demonstrates the clinical features of anhidrosis and insensitivity to pain.
- Early diagnosis and multidisciplinary care are emphasized to prevent severe complications.
- Genetic testing is noted as crucial but not always feasible in resource-limited settings.

## Abstract

Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings. Early diagnosis and a multidisciplinary approach help prevent complications like severe injuries, infections, and hyperpyrexia.