1/4. Orthopaedic manifestations of mucolipidosis III: an illustrative case.The musculoskeletal manifestations of mucolipidosis III include short stature, claw hands, carpal tunnel syndrome, and limited joint mobility. This article presents a series of complex orthopaedic problems, including avascular necrosis of the talus, encountered in one such patient whose presentation had initially given the impression of a mild form of the disease.- - - - - - - - - - ranking = 1keywords = claw (Clic here for more details about this article) |
2/4. A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity.Mucolipidosis III (ML-III), or pseudo-Hurler polydystrophy, is an autosomal recessive Hurler-like disorder without mucopolysacchariduria. The diagnosis is challenging for rheumatologists since the musculoskeletal presentation is similar to some rheumatic diseases. We report a case of ML-III in a 16-year-old Taiwanese boy. The characteristic findings of sonography and magnetic resonance imaging (MRI) of claw hand deformity are described. A 16-year-old boy was referred to our rheumatologic clinic because of progressive claw hand deformity, multiple joint stiffness and tightness of the skin over the fingers at the age of 6 years. Sonography and MRI examination disclosed tendon sheath thickening over extensor tendons of both wrists and fingers without features of active inflammation over tendons or joints nor thickening of skin. Urinary glycosaminoglycans were normal. The diagnosis of ML-III was confirmed by the presence of elevated activities of beta-glucuronidase (2141.99 nmol/mg protein/hour), arylsulfatase A (1237.7 nmol/mg protein/hour) and alpha-fucosidase (52.95 nmol/mg protein/hour) in his plasma and decreased activity of these lysosomal enzymes in cultured skin fibroblasts. Sonography and MRI screening for claw hand deformity may offer important clues enabling early diagnosis of ML-III.- - - - - - - - - - ranking = 7keywords = claw (Clic here for more details about this article) |
3/4. A mild form of mucolipidosis type III in four Baluch siblings.Four Baluch siblings with mucolipidosis type III (pseudo-Hurler polydystrophy) are described. The patients had features commonly found in mucolipidosis III, including claw hands, joint stiffness, aortic valve involvement and radiological dysostosis multiplex. However, intelligence was normal, there were no eye abnormalities on slit-lamp examination and skin elasticity was normal. Many lysosomal enzymes were elevated in serum and diminished in cultured fibroblasts, although the findings for beta-galactosidase were atypical. Assays for the two enzymes involved in formation of the phosphomannose recognition marker revealed normal activity of the phosphotransferase with alpha-methylmannoside as an acceptor, and normal activity of the phosphodiester glycosidase. Metabolic labelling of fibroblasts with 32P followed by immunoprecipitation of cathepsin d, electrophoresis and fluorography showed that this enzyme was not labelled in the patients' cells, although some label was detected in the secreted precursor polypeptide. The data are consistent with the assumption that activity of the phosphotransferase is low towards lysosomal enzymes as substrates, and that the patients belong to complementation group C.- - - - - - - - - - ranking = 1keywords = claw (Clic here for more details about this article) |
4/4. Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family.Three adult patients (38-year-old male, 86-year-old female, and 61-year-old male) in a family with mucolipidosis III (ML-III) were described. They had characteristic features of ML-III and they survived a long time. N-acetylglucosaminyl 1-phosphotransferase activity was low in fibroblasts of a patient, but its residual activity remained at a relatively high level (24.5-35.3% of controls), which may explain the benign clinical course. Odontoid dysplasia and atlanto-axial dislocation was found in one patient, and surgical treatment improved his physical disability. Bilateral carpal tunnel syndrome as well as claw hand deformities were common in all of the patients. The clinical manifestations were important for the diagnosis and the management of the patients.- - - - - - - - - - ranking = 1keywords = claw (Clic here for more details about this article) |