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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）：病例報告及其爪形手之超音波與磁振造影之影像表現
摘要
Mucopolysaccharidosis (MPS) type IS (Scheie syndrome) is a rare autosomal recessive lysosomal storage disease caused by deficiency of α-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 plasma α-L-iduronidase activity. Both pediatricians and rheumatologists should be alert these specific findings of lysosomal storage diseases.
關鍵字
無資料並列摘要
Mucopolysaccharidosis (MPS) type IS (Scheie syndrome) is a rare autosomal recessive lysosomal storage disease caused by deficiency of α-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 plasma α-L-iduronidase activity. Both pediatricians and rheumatologists should be alert these specific findings of lysosomal storage diseases.
延伸閱讀
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