Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

Abstract

This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.

Keywords

• Late onset central hypoventilation syndrome
• Alveolar hypoventilation
• Autonomic Nervous System
• Hirschsprung Disease
• Polyalanine repeat
• PHOX2B
• heterozygous