Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case

以癲癇重積症表現之楓糖尿症：一病例報告

王怡人(I-Jen Wang) ； 朱紹盈(Shao-Yin Chu) ； 王傳育(Chuan-Yuh Wang) ； 王本榮(Pen-Jung Wang) ； 胡務亮(Wuh-Liang Hwu)

《Acta Paediatrica Taiwanica》 44卷4期 (2003/08) Pp. 246-248

https://doi.org/10.7097/APT.200308.0246

摘要

楓糖尿症是一種少見的支鏈胺基酸代謝疾病，可分成典型、中間型、間歇型及維他命B1反應型。一位十六天大小男嬰，吃不好，持續有代謝性酸中毒及腳踏三輪車之動作。一開始診斷爲癲癇重積症，後來才知其爲典型之楓尿症。低蛋白飲食及早期經靜脈補充足量葡萄糖可預防神經系統併發症之進一步惡化。定期胺基酸濃度監測可避免因低蛋白飲食所造成之胺基酸缺乏，否則將有可能發生似鋅缺乏之腸病性肢端皮膚炎。

關鍵字

楓糖尿症 ； 癲癇重積症 ； 腸病性肢端皮膚炎

並列摘要

Maple syrup urine disease (MSUD) is a rare inborn error of the branched chain amino acid metabolism, which can be classified as classical, intermediate, intermittent, and thiamine responsive types. We report a 16-day-old boy who suffered from difficult feeding, persistent metabolic acidosis, and tricycling movement of the lower legs. Status epilepticus was the initial impression, but classical type MSUD was later diagnosed. Under the diagnosis, dietary therapy effectively prevented further neurological deterioration. However, amino acid deficiency manifested as acrodermatitis enteropathica-like skin rash occurred once. Early parenteral glucose supplementation and periodic plasma amino acid monitoring are very important in the management of metabolic diseases, including MSUD.

並列關鍵字

maple syrup urine disease ； status epilepticus ； acrodermatitis enteropathica