黏多醣第一型S分型（ Scheie症候群）：病例報告及其爪形手之超音波與磁振造影之影像表現

MPS IS (Scheie syndrome): A Case Report Including Sonographic and MRI Findings of Claw Hand

黏多醣第一型S分型（Scheie症候群）是一種罕見的自體隱性溶小體貯積病，肇因於L-iduronidase的缺乏，發生率為五十萬分之一。我們報告臺灣第一例之黏多醣第一型S分型（Scheie症候群）。病患為智能正常之九歲女孩，至本院風濕科門診時表現出爪形手，多關節僵硬，輕微的臉部容貌粗大，駝背及翼狀肩胛。我們對其爪形手實施超音波檢察發現在雙側手腕及手指之伸肌及屈肌腱上有均勻低回音病兆。磁振造影亦顯示於T1加強及質子密度之影像有低到中等強度訊號之病兆及於T2加強之影像有低強度訊墊之病兆，且顯影劑未加強顯影。兩者皆顯示可能有某些物質沉積在腱鞘上造成腱鞘增厚。眼睛裂隙燈檢查顯示雙側角膜周邊有輕微混濁。尿液中glycosaminoglycans （GAGs）排出量為154.43 mg GAGs/ g Cr （正常值小於77.5 GAGs/g Cr），血清中溶小體酶α-L-iduronidase為0.13 nmol/ml （正常值大>4.55 nmol/mg Prot/hr），因而確定診斷為黏多醣第一型S分型。此乃黏多醣症爪形手之超音波及磁振造影檢察之首例報告。我們認為小兒科及風濕科醫生應認識此種爪形手之超音波及磁振造影影像有以便及早診斷出此種溶小體貯積病。

Mucopolysaccharidosis (MPS) type IS (Scheie syndrome) is a rare autosomal recessive lysosomal storage disease caused by deficiency ofα-L-iduronidase. A 9-year -old girl of normal intelligence presented to our rheumatologic clinic with claw hand deformity, multiple joint stiffness, slight coarse facial features, kyphosis and scapula winging. High resolution sonography disclosed hypoechoic lesion over the peritendonous region of extensor and flexor tendons of both hands and wrists. Magnetic resonance imaging also disclosed abnormal lesions of low to intermediate signal intensity on T1-weighted and proton density images, and lesions of low signal intensity on T2-weighted images. The diagnosis of MPS type IS was confirmed by the presence of excessive urinary glycosaminoglycans and low plasmaα-L-iduronidase activity. Both pediatricians and rheumatologists should be alert these specific findings of lysosomal storage diseases.