Neurocristopathy Combined with Congenital Central Hypoventilation Syndrome, Hirschsprung's Disease and

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=Abstract=

Neurocristopathy Combined with Congenital Central Hypoventilation Syndrome, Hirschsprung's Disease and

Ganglioneuroblastoma in a Neonate

Sung-Eun Jung, M.D., Dae-Yeon Kim, M.D., Ki-Hong Kim, M.D., Seong-Cheol Lee, M.D., Kwi-Won Park, M.D., Woo-Ki Kim, M.D.

Department of Surgery, Seoul National University College of Medicine Seoul Korea

Neurocristopathy originates

from

aberrant development of the neural crest by genetic abnormality. Dysgenetic or neoplastic neurocristopathy mayor may not combine at one or more organs. Congenital

central

hypoventilation syndrome (Ondine's curse) is characterized by the respiratory depression during sleep, although showing normal ventilation while awake, because the baby does not responde to hypercapnea or hypoxia. One newborn girl, full-term, 3,020 g of birth weight with neurocristopathy is reported.

It

showed poor respiration at birth, and temporary improvement with oxygen and respiratory stimulations.

Abdomen was distended. Abdominal

x-ray

revealed small bowel obstruction and calcified opacity at the right lower quadrant. Because transitional zone was noticed at the distal jejunum during laparotomy, jejunostomy was performed.

Several times trial of extubation have failed becaused of the repeated apneas.

Brain sonography

and echocardiogram

were normal. The patient died of sepsis at 37 days of age. Para-aortic ganglioneuroblastoma was found at autopsy. In this case, congenital central hypoventilation syndrome, Hirschsprung's disease and congenital ganglioneuroblastoma are combined as a neurocristopathy.

Index Words: Neurocristopathy, Congenital Central Hypoventilation Syndrome, Hirs- chsprunf?'s disease, Ganf?lioneuroblasoma.

Correspondence: Sung-Eun lung, M.D., Depanmenc oj Pediatric Surgery, Seoul National University Children's Ho- spital, 28 Yongon-dong Chongno-gu, Seoul 110-744, Korea

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Fig. 1. Preoperative infantogram on the day of birth, showing dilated small bowel and irregular calcified shadow at RL abdomen.

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