Congenital central hypoventilation syndrome and carbon dioxide sensitivity.

[hirschsprung disease]

Congenital central hypoventilation syndrome (CCHS ) is characterised by hypoventilation most marked during sleep and is often associated with abnormalities of the autonomic nervous system . We report an infant with severe CCHS and Hirschsprung disease in whom , while awaiting genotyping , the diagnosis was facilitated by the results of a carbon dioxide (CO 2 ) sensitivity study in the neonatal period and was confirmed by paired-like homeobox 2 B (PHOX 2 B ) mutational analysis . The infant had no ventilatory response to increased inspired carbon dioxide levels when either awake or asleep suggesting he had a severe form for CCHS ; indeed , he subsequently demonstrated to have the 20 /31 genotype . This is the first case report of a genotype-confirmed CCHS disease in a neonate with Hirschsprung disease further characterised by a ventilatory challenge . Conclusion : CO 2 sensitivity status may assist in determining the severity of the CCHS .

Diseases
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Diseases presenting "severe form" symptom

alpha-thalassemia

benign recurrent intrahepatic cholestasis

canavan disease

child syndrome

congenital adrenal hyperplasia

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

inclusion body myositis

kindler syndrome

lamellar ichthyosis

legionellosis

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

neuralgic amyotrophy

papillon-lefèvre syndrome

zellweger syndrome

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