# Congenital Central Hypoventilation Syndrome: A Case Report

## TL;DR

This paper presents a case of a two-month-old child diagnosed with congenital central hypoventilation syndrome, a rare condition requiring long-term ventilation and genetic testing.

## Contribution

The novelty lies in the detailed clinical and genetic confirmation of CCHS in an infant with recurrent apnea and cyanosis.

## Key findings

- A two-month-old female presented with apnea and cyanosis, leading to the diagnosis of CCHS after excluding other causes.
- Genetic testing confirmed the diagnosis, and the child was managed with home oxygen therapy and parental counseling.

## Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare cause of apnea and hypoventilation requiring long-term multidisciplinary care. In this article, we report the case of a two-month-old female child who presented with recurrent apnea and cyanosis, requiring long-term ventilation. After ruling out other common causes of apnea like sepsis, metabolic disorders, and neuromuscular disorders, a genetic study was done, which confirmed the diagnosis of CCHS. The child was discharged on home oxygen therapy, and the parents were counseled about genetic testing and informed about the prognosis and requirement for home ventilation therapy, as well as parental testing.