Congenital central hypoventilation syndrome with PHOX2B gene mutation.
A term baby developed hypoventilation on day 1 of life requiring mechanical ventilation and had subsequent difficulty in weaning. Diagnostic workup for pulmonary, cardiac, metabolic, sepsis and structural CNS diseases were negative. In view of persistent hypoventilation despite raised pCO(2) levels in absence of any sedation, the diagnosis of Idiopathic. Congenital Central Hypoventilation Syndrome (CCHS) was considered. The baby was tested for Paired-like Homeobox 2B (PHOX2B) gene mutation and was found to have expanded alleles containing 10 polyalanine repeats producing genotype of 20/30 on chromosome 4p12 (The normal being 20/20). This is the first report of a neonate from India with genetically confirmed CCHS.
Division of Pediatric and Neonatal Neurology, Rainbow Children's Hospital and Perinatal Centre, Hyderabad, India. siriloki@gmail.com
Lokesh
L
Lingappa
Nalini Kanth
NK
Panigrahi
Dinesh Kumar
DK
Chirla
Sarah
S
Burton-Jones
Margaret M
MM
Williams
D042622:DNA Repeat Expansion; D005260:Female; D005819:Genetic Markers; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D020182:Sleep Apnea, Central / Q000175:diagnosis* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
D005819:Genetic Markers; D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors