Associated features in CCHS/Hirschsprung patients
| Patient | |||||
|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | |
| Ocular | — | Pupil dilatation; ptosis | Pupil dilatation | Left amblyopia; unequal pupils; right Marcus-Gunn jaw winking sign | Normal |
| Brain stem auditory evoked reponse | Abnormal | — | — | Conductive hearing loss only | Normal |
| Heart rate | Decreased variability | Normal | Decreased variability pre- and postpartum | Asymptomatic bradycardias | Bradycardic episodes (“central dysrhythmia”) |
| Swallowing | — | Gastro-oesophageal reflux | Absent | Gastro-oesophageal reflux, Dyscoordinated swallowing and aspiration | Possible gastro-oesophageal reflux |
| Epilepsy | Present | Present | — | — | — |
| Neural crest tumour | — | — | Infrarenal masses | Borderline high catecholamines. No mass found | — |
| Other | — | — | Facial dysmorphism; delayed myelination on brain MRI | — | Occipital scalp xanthoma |
| Family history | Not available | Mother: fits till age 10 Maternal aunt: hypo- thyroid Father: piebald | Maternal aunt with cyanotic congenital heart disease | Full history not available but, no history of CCHS | Maternal family history of benign goitre; no other CCHS/HSCR |
CCHS = congenital hypoventilation syndrome; HSCR = Hirschsprung’s disease; MRI = magnetic resonance imaging.