Title: Congenital Central Hypoventilation Syndrome and Hirschsprung’s Disease in an Extremely Preterm Infant | American Academy of Pediatrics
Headings: Congenital Central Hypoventilation Syndrome and Hirschsprung’s Disease in an Extremely Preterm Infant
Congenital Central Hypoventilation Syndrome and Hirschsprung’s Disease in an Extremely Preterm Infant
Abstract
CASE REPORT
DISCUSSION
CONCLUSIONS
Acknowledgments
Footnotes
REFERENCES
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Content: HD when associated with CCHS is different from classical HD. Intestinal aganglionosis is more extensive, and the gender ratio is equal as opposed to 4:1 male preponderance in classical HD. The reported incidence of CCHS is 1.5% in HD cases, which increases to 10% as aganglionosis increases. 7 The incidence of HD in CCHS cases varies between 16% and 50% as reported by various authors. 3, 5, 7, 8 Associated features include ophthalmic abnormalities in 20% of cases (up to 60% in the Weese-Mayer series 8 ), esophageal dysmotility in up to 20% of cases, sensorineural hearing loss in 10%, neural crest tumors (ganglioneuromas, neuroblastomas) in ∼5% of cases, and signs and symptoms of autonomic nervous system dysfunction. 3, 5, 7 – 10 In our case, cardiotocogram performed before delivery had shown lack of fetal heart rate variability, which may have been indicative of autonomic nervous system dysfunction in the fetus. Temperature instability and heart rate abnormalities are common in extreme prematurity, and it is difficult to ascribe these findings to generalized autonomic nervous system dysfunction. Autopsy findings in our case demonstrated nodules in the adrenal glands, which might represent early stages of neural crest tumor. Minutillo et al 11 described facial dysmorphism in their case, but there are no other reports with characteristic facial features that identify this disorder. Apart from a small preauricular skin tag on the right side, no dysmorphic features were identified in this case.