[A child with apnoea].

Abstract

This is a case report of a girl, from the age 73 days to 5 years and 173 days , who during sleep had 127 episodes of apnoea (lasting 20-55 seconds) accompanied by colour shifts. In her first year of life she had 21 episodes of apnoea, in the second 21, in the third 36, in the fourth 22, in the fifth year 7, and during the first 6 months of the sixth year there were 2 episodes of apnoea. An explanation was never found in spite of investigations aiming at cardiopulmonary, neurological or metabolic disease. The staff never verified episodes of apnoea during admittances to hospital wards. The episodes were merely observed by the mother, the father and the grandmother, but the circumstances were persuasive. In addition to episodes of apnoea she had symptoms of dysfunction of the autonomous nervous system, i.e. facial colour shift and sweating without apnoea or exercise. She had frequent attacks of abdominal colic until aged two and a half years. It has not been possible to give a clear-cut diagnosis. It is hypothesized that she suffers from a mild form of a disease entity covering a wide spectrum from Ondine's curse (Congenital central hypoventilation syndrome) to remittent Apparent life-threatening events (ALTEs) and Sudden infant death syndrome (SIDS).