病例報告：黏多醣症第一型之Hurler氏病之影像表現

Case Report: Imaging Presentation of Hurler's Syndrome of Mucopolysaccharidosis Type I

盧怡穎(Yi-Yin Lui) ； 彭學恭(Hsueh-Kung Pung)

《中華放射線技術學雜誌》 37卷4期 (2013/12) Pp. 228-231

摘要

本文中報告一位2.5歲的男孩，因為生長和發展遲緩來院求診，同時有頭圍過大的狀況。在小兒科醫師安排的影像檢查上可見以下發現：腦部核磁共振影像上可見水腦和蝶鞍明顯擴大。手部的X光片上可見明顯粗短的掌骨和指骨。側面照的胸腔椎X光片上可見腰椎脊椎骨體下方向前鳥嘴狀的突起。綜合以上影像表現Hurler氏病幾乎可以確定診斷。了解這些Hurler氏病特有的影像表現，可以幫助診斷出Hurler氏病，進而給與病患與家屬適當之協助。

關鍵字

黏多醣症 ； 黏多醣症第一型 ； Hurler氏病

並列摘要

Here we report a 2.5-year-old boy who was brought to our out-patient department for growth delay and developmental delay. Enlarged head circumference was noted at the out-patient department by the pediatrician. There were characteristic findings on the following imaging studies arranged by the pediatrician. On the brain MRI, hydrocephalus and markedly enlarged sella turcica were noted. On the radiography of left hand, short and wide metacarpal bones and phalanges were shown. On the lateral view of thoracolumbar spine, anterior inferior beakings of the lumbar vertebrae were noted. These imaging findings are pathognomonic for Hurler's syndrome. To be familiar with these imaging findings could help identifying patients with Hurler's syndrome, so that proper support could be given to these patients and their families earlier.

並列關鍵字

mucopolysaccharidosis ； mucopolysaccharidosis type I ； Hurler's syndrome