Synonyms:
Ondine’s curse
Diagnosis:
Adequate ventilation while awake +alveolar hypoventilation while asleep (normal rate +shallow breathing)
+hypoxia +hypercarbia without arousal
+Absence of cardiac, lung, neuromuscular, brain conditions
In some: PHOX2B gene mutation,
Investigations to consider:
ECG, Holter
CXR
Fluoroscopy of the diaphragm
Muscle biopsy
MRI
Blood tests:
- Carintine
Urine:
- Carintine
Sleep study:
- Hb O2 saturation, tidal volume (pneumotachograph), chest & abdomen movement (respiratory inductance plethysmography)