Table 3

Associated features in CCHS/Hirschsprung patients

1 2 3 4 5
Ocular Pupil dilatation; ptosisPupil dilatationLeft amblyopia; unequal  pupils; right Marcus-Gunn  jaw winking sign Normal
Brain stem auditory evoked reponse AbnormalConductive hearing loss onlyNormal
Heart rate Decreased variabilityNormalDecreased variability pre-  and postpartumAsymptomatic bradycardiasBradycardic episodes (“central  dysrhythmia”)
Swallowing Gastro-oesophageal refluxAbsentGastro-oesophageal reflux, Dyscoordinated swallowing  and aspirationPossible gastro-oesophageal  reflux
Epilepsy PresentPresent
Neural crest tumour Infrarenal massesBorderline high  catecholamines. No mass  found
Other Facial dysmorphism;  delayed myelination on  brain MRIOccipital scalp xanthoma
Family history Not availableMother: fits till age 10 Maternal aunt: hypo- thyroid Father: piebaldMaternal aunt with  cyanotic congenital  heart diseaseFull history not available but,  no history of CCHSMaternal family history of  benign goitre; no other  CCHS/HSCR
  • CCHS = congenital hypoventilation syndrome; HSCR = Hirschsprung’s disease; MRI = magnetic resonance imaging.