Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series

Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX2B genes. We present five cases from three generations within the same family with varying degrees of phenotypic expression of the PHOX2B gene mutation. The cases were diagnosed following identification of CCHS in index case at birth. This case series underscores the importance of screening first-degree relatives of individuals with confirmed CCHS and alerts the clinicians to maintain a high degree of suspicion in asymptomatic family members given the high degree of phenotypic variability of CCHS.