Purpose or Case Report: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder that can cause respiratory arrest during sleep. It is sometimes referred to as "Ondine's Curse" in reference to a fictional character who had to remember to breathe based on a spell cast by a jilted lover. The number of cases has been reported to be near 1,000. The purpose of this educational exhibit is to describe CCHS and emphasize its implications for pediatric radiology.
Methods & Materials: The molecular basis and incidence of CCHS are described. Neoplastic associations and additional abnormalities are emphasized. The effects on multiple organ systems are discussed.
Results: CCHS is caused by a mutation in PHOX2B. The product of this gene is found in neural crest cells and promotes neuron formation and differentiation. Most cases of CCHS occur from spontaneous mutation, but the disease can be inherited in an autosomal dominant fashion. Due to its neural crest involvement, CCHS predisposes patients to neuroblastoma which prompts regular screening by oncologists. Likewise, neural developmental failure can result in Hirschsprung disease requiring barium enema for evaluation. Patients often have a short wide face. Treatment sometimes involves the use of a diaphragmatic pacer which may be unfamiliar to radiologists.
Conclusions: CCHS is rare, but the diagnosis prompts screening for neuroblastoma which is more common in this disease. Barium enema is indicated early in life to exclude Hirschsprung disease.