1.
Oman Medical Journal. 2006; 21 (1): 57-58
em Inglês
| IMEMR
| ID: emr-79860
RESUMO
CCHS presents as hypoventilation, mainly in depth rather than rate of breathing, manifest mainly in quiet sleep; however in severe cases, even in awake period. Hirschprung disease is high in the list of associated anomaly as high as 30% in one report and neuroblastoma as 20%. Although, eye anomalies, developmental delay, seizures, hearing defects, GIT motility disorders have been linked as other associated findings, renal tubular defect seems to be unusual and should be looked for also. Management of CCHS is difficult and challenging with guarded prognosis although some families would not continue the treatment for ever