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Hirschsprung 병을 동반한 Congenital central hypoventilation syndrome 1 례 ( Ondine`s curse )
안영민(Young Min Ahn),최희란(Hee Ran Choi),이현주(Hyeon Joo Lee),동은실(Eun Sil Dong),홍수종(Soo Jung Hong),문형남(Hyung Nam Moon),김인구(In Ku Kim) 대한소아알레르기호흡기학회 1993 소아알레르기 및 호흡기학회지 Vol.3 No.1
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of central control of ventilation in which patients hypoventilate primarily during sleep, despite the presence of normal neuromuscular and pulmonary system. The pathophysiology of CCHS is unknown. Ondine`s curse has been linked to Hirschsprung`s disease, congenital neuroblastoma, ganglion-euroblastoma, lack of heart rate variability. It suggested that the respiratory, cardiac, intestinal abnormality might be the possibility of neuronal crest migrational abnormality in early embryonic development, resulting in disease complex including CCHS. (may be a form of the neurocristopathy) We experienced 1 day old male newborn who developed cyanosis, shallow respiration, abdominal distension, diagnosed as congenital central hypoventilation syndrome with total aganglionosis