Congenital central hypoventilation syndrome and intestinal aganglionosis: A case report

South African Journal of Child Health

Tanusha Ramdin¹  Victor Davies¹ 

[1] Department of Paediatrics and Child Health, Charlotte Maxeke Hospital and University of the Witwatersrand, Johannesburg, South Africa

关键词: Congenital central hypoventilation syndrome;    congenital intestinal aganglionosis;    neonate;    PHOX2B gene;    apnoea;    Hirschsprung';    s disease;   

DOI  :  

学科分类：农业科学（综合）

来源: Health and Medical Publishing Group

【 摘 要 】

Congenital central hypoventilation syndrome (CCHS), also called ‘Ondine’s curse’, is characterised by an abnormal ventilatory response to progressive hypercapnia and sustained hypoxaemia. Neonates with this condition experience hypoventilation or apnoea while asleep. Patients may also have congenital intestinal aganglionosis (CIA), aganglionic megacolon or Hirschsprung’s disease, suggesting an aberrant phenotype arising from a defect of migration or differentiation of neural crest cells. Some patients also have tumours of neural crest cell origin, including neuroblastoma, ganglioneuroma and ganglioneuroblastoma. The association of CCHS and CIA is called Ondine-Hirschsprung disease (Haddad syndrome). A few cases have been diagnosed in South Africa, but none has been reported. We report a case of CCHS and CIA with a PHOX2B gene mutation.

【 授权许可】

Unknown