PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome
Background: Congenital central hypoventilation syndrome (CCHS) is characterized by
 compromised chemo-reflexes that results in hypoventilation during sleep. Recently, a
 heterozygous PHOX2B gene mutation was identified in CCHS. This report was made to increase
 physicians' awareness of this rare disease.

 Methods: A Chinese family of CCHS with presentations from newborn to adulthood and genetic
 analysis confirming the PHOX2B mutation was analyzed. After identifying central
 hypoventilation in an adult male (index case), clinical evaluation was performed on the
 complete family, which consisted of the parents, five siblings, and five offsprings. In
 addition, pulmonary function test, overnight polysomnography, arterial blood gas, and
 hypercapnia ventilatory response, and genetic screening for PHOX2B gene mutations were
 performed on living family members.
Inclusion Criteria:

 -  Members of familiar congenital central hypoventilation syndrome

 Exclusion Criteria:

 -  Refuse to participate study