Megacystis Microcolon Intestinal Hypoperistalsis Syndrome with Severe Psychomotor Retardation: Report of One Case

巨膀胱－細小結腸－蠕動不良症候群伴隨嚴重精神運動發展遲緩：一病例報告

陳榮泰(Long-Tai Chen) ； 楊文理(Winnie Yang) ； 李淳恩(Chwen-En Li) ； 黃品宏(Ping-Hung Huang)

《Acta Paediatrica Taiwanica》 43卷4期 (2002/08) Pp. 224-227

https://doi.org/10.7097/APT.200208.0224

摘要

巨膀胱細小結腸蠕動不良症候群(megacystis microcolon intestinal hypoperistalsis syndrome)是一少見且嚴重的、新生兒期即發生的，功能性假性腸阻塞。患者一出生後，於臨床上即表現有嘔吐、腹脹、和巨型膀胱。僅管積極從事內科或外科處置，他們常於生命早期即宣告死亡。此篇文章，我們提出了一例三歲七個月大的小女孩，出生後即患有巨膀胱細小結腸蠕動不良症候群，並伴隨嚴重精神運動發展遲緩，且於死後接受了病理解剖的個案報告。

關鍵字

巨膀胱－細小結腸－蠕動不良症候群 ； 腸旋轉不良 ； 腎水腫 ； 自體隱性遺傳疾病

並列摘要

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and severe form of neonatal functional bowel obstruction. Affected neonates present with vomiting, an overdistended abdomen, and a huge bladder after birth, and they usually die early in life despite intensive medical and/or surgical management. We report the case of a girl aged 3 years 7 months who had MMIHS with severe psychomotor retardation; autopsy was performed after her death.

並列關鍵字

megacystis microcolon intestinal hypoperistalsis syndrome ； mairotation ； hydronephrosis ； autosomal recessive disease