Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant.
Congenital central hypoventilation syndrome (CCHS) is a rare disease that is characterized by failure in the autonomic control of breathing. Recent reports have identified mutation of the paired mesoderm homeobox protein 2b (PHOX2B) gene as playing a major role in CCHS. Increasing polyalanine repeat number is associated with a more severe clinical phenotype. We report a newborn male infant with the clinical manifestations of apnea and cyanosis requiring immediate endotracheal intubation at the age of 1 day. Recurrent hypoventilation with hypercapnia and hypoxemia occurred during sleep after weaning from the ventilator. No primary cardiopulmonary disease was identified. These clinical manifestations are compatible with CCHS. PHOX2B gene mutation analysis performed at the age of 4 months revealed expanded alleles containing polyalanine 26 repeats, further supporting the diagnosis of CCHS. Continuous ventilator support was necessary and tracheostomy was ultimately performed at the age of 5 months due to ventilator dependence. He was discharged with home ventilator support at the age of 6 months.
Chen
Lei-Ru
LR
Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
Tsao
Po-Nien
PN
Su
Yi-Ning
YN
Fan
Pi-Chuan
PC
Chou
Hung-Cheih
HC
Chen
Chien-Yi
CY
Chang
Yu-Hsun
YH
Hsieh
Wu-Shiun
WS
D004252:DNA Mutational Analysis; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000235:genetics* / Q000628:therapy; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012121:Respiration, Artificial; D013577:Syndrome; D013624:Taiwan; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors