Haddad 증후군 1예 = A Case of Haddad Syndrome

국문 초록 (Abstract)

저자들은 청색증, 복부 팽만을 주소로 내원한 생후 2일 된 남아에서 Haddad 증후군, 즉 결장 전체의 무신경절증 형태의 Hirschsprung병을 동반한 선천성 중추성 저환기 증후군 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

다국어 초록 (Multilingual Abstract)

The combination of Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, belongs to the family of diseases now designated as Neurocristopathies. We have experienced a case of Haddad syndrome in a male infant who presented with repetitive abdominal distension, bilious vomiting, and sleep apnea. Following colon study and rectal biopsy disclosed the absence of the ganglion cell. And the infant could not be weaned from mechanical ventilation since birth because of the absence of effective, spontaneous respiration during sleep. As he was diagnosed as Haddad syndrome, tracheostomy and ileostomy were performed consecutively. At the age of 4 months, he was relatively healthy but remained ventilator-dependent. We report the first Korean case of Haddad syndrome with a brief review of the related literature.

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