Brik R, Mandel H, Aizin A, Goldscher D, Ziegler M, Bialik V, Berant M
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
J Rheumatol. 1993 Jan;20(1):133-6.
Genetic disorders of the osseous skeleton constitute a challenging area of differential diagnosis. Three patients, 2 girls and 1 boy, were referred to our pediatric rheumatology clinic because of progressive stiffness of their hands and flexion contractures of fingers, accompanied by additional musculoskeletal changes. One of the girls had been diagnosed in early childhood as having juvenile rheumatoid arthritis, the other was suspected to have scleroderma, and the boy had been labelled with "Hurler's syndrome." On evaluation, all 3 patients had the clinical and roentgenographic features of mucolipidosis III; the diagnosis of mucolipidosis III was confirmed by enzymatic assays. We call for an awareness of pediatricians, rheumatologists and orthopedic surgeons to the "rheumatological" presentation of mucolipidosis III. The establishment of a precise diagnosis will lead to adequate management and will allow appropriate genetic counseling.
骨骼的遗传性疾病是鉴别诊断中一个具有挑战性的领域。三名患者，2名女孩和1名男孩，因手部进行性僵硬和手指屈曲挛缩，并伴有其他肌肉骨骼变化，被转诊至我们的儿科风湿病诊所。其中一名女孩在幼儿期被诊断为幼年类风湿性关节炎，另一名被怀疑患有硬皮病，而男孩被诊断为“胡勒氏综合征”。经评估，所有3名患者均具有Ⅲ型粘脂贮积症的临床和X线特征；通过酶分析确诊为Ⅲ型粘脂贮积症。我们呼吁儿科医生、风湿病学家和骨科医生关注Ⅲ型粘脂贮积症的“风湿病学”表现。准确诊断将有助于进行适当的管理并提供合适的遗传咨询。
