Clinical features of CCHS/Hirschsprung patients
| Patient | |||||
|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | |
| Sex | M | F | F | M | F |
| Gestation (weeks) | 39 | 39 | 35 | >40 | 40 |
| Birth weight (kg) | 3.38 | 3.44 | 2.76 | 3.5 | 3.085 |
| Length of aganglionosis | Sigmoid? | TCA | TCA? | Sigmoid | Sigmoid |
| Age at presentation of HSCR | Day 2 | Day 3 | Day 5 | Day 2 | Day 3 |
| Age ventilated | 30 minutes | 12 hours | Birth | 3 hours | Birth |
| Respiratory responses | No response to raised CO2 | No response to asphyxia or CO2 110 mm Hg when asleep | Raised CO2, no polygraphy performed | Rapid O2 desaturation when asleep | No response to CO2 50 mm Hg, and decreased O2, in quiet sleep |
| Alive | No | Yes: on home ventilation | No | Yes: on home ventilation | Yes: on home ventilation |
CCHS = congenital hypoventilation syndrome; HSCR = Hirschsprung’s disease.