Superior Mesenteric Artery Syndrome Associated with Hereditary Motor and Sensory Neuropathy Type II - a Case Report

上腸系膜動脈症候群合併遺傳性運動及感覺神經症候群第II型－病例報告

林龍昌(Lung-Chang Lin) ； 李一賢(I-Hsien Lee) ； 楊瑞成(Rei-Cheng Yang) ； 鐘育志(Yuh-Jyh Jong)

《The Kaohsiung Journal of Medical Sciences》 17卷9期 (2001/09) Pp. 484-488

https://doi.org/10.6452/KJMS.200109.0484

摘要

本篇主要提出一個14歲女生患有上腸系膜動脈症候群合併遺傳性運動及感覺神經症候群第二型之病例報告，病人的最初症狀為兩歲時被發現發展遲緩及步態不穩，全身肌腱反射喪失，四肢神經傳導速度檢查也有傳導速度稍微減低及振幅減低，後來經神經切片證實為遺傳性運動及感覺神經症候群第二型。最近６個月病人有間歇性嘔吐及上腹痛，因而導致體重由40公斤下降至28公斤，腹部超音波看起來上腸系膜動和主動脈間的夾角變小，上消化道攝影則有十二指腸的第三部分阻塞的現象，因而診斷為上腸系膜動脈症候群。目前為止，並無上腸系膜動脈症候群合併遺傳性運動及感覺神經症候群第二型的病例報告，本篇報告我們提出一個上述二個症候群合併的病例，她有體重快速下降，及入院前有上腹痛及膽汁性嘔吐，此外，也針對此罕見疾病之臨床特徵及處置做探討。

並列摘要

A 14-year-old girl with superior mesenteric artery (SMA) syndrome associated with hereditary motor and sensory neuropathy (HMSN) type II is reported. The initial presentations of HMSN type II were developmental delay and gait disturbance at 2 years of age. All deep tendon reflexes were absent. Nerve conduction velocities and left sural nerve biopsy all revealed axonal changes. Recently, she suffered from intermittent bilious vomiting and epigastralgia for 6 months. That caused body weight loss from 40 kg to 28 kg. Abdominal echography showed narrowed superior mesenteric artery angle. Upper gastrointestinal series revealed obstruction of third portion of duodenum. Accordingly, SMA syndrome was diagnosed. To the best of our knowledge, this case is the first report of SMA with HMSN type II in the world. When a child with chronic neurological disease presents with intermittent vomiting, SMA should be considered as a disease entity of differential diagnosis.

並列關鍵字

superior mesenteric artery syndrome ； hereditary motor and sensory neuropathy