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A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity.
J Formos Med Assoc 2004; 103(9):715-20JF

Abstract

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.

Authors+Show Affiliations

Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, Veterans General Hospital, Taichung, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15361946

Citation

Chen, Hsin-Hua, et al. "A Mucolipidosis III Patient Presenting Characteristic Sonographic and Magnetic Resonance Imaging Findings of Claw Hand Deformity." Journal of the Formosan Medical Association = Taiwan Yi Zhi, vol. 103, no. 9, 2004, pp. 715-20.
Chen HH, Lan JL, Shu SG, et al. A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. J Formos Med Assoc. 2004;103(9):715-20.
Chen, H. H., Lan, J. L., Shu, S. G., Chen, D. Y., & Lan, H. H. (2004). A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. Journal of the Formosan Medical Association = Taiwan Yi Zhi, 103(9), pp. 715-20.
Chen HH, et al. A Mucolipidosis III Patient Presenting Characteristic Sonographic and Magnetic Resonance Imaging Findings of Claw Hand Deformity. J Formos Med Assoc. 2004;103(9):715-20. PubMed PMID: 15361946.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. AU - Chen,Hsin-Hua, AU - Lan,Joung-Liang, AU - Shu,San-Ging, AU - Chen,Der-Yuan, AU - Lan,Howard Haw-Chang, PY - 2004/9/14/pubmed PY - 2004/11/4/medline PY - 2004/9/14/entrez SP - 715 EP - 20 JF - Journal of the Formosan Medical Association = Taiwan yi zhi JO - J. Formos. Med. Assoc. VL - 103 IS - 9 N2 - 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. SN - 0929-6646 UR - https://www.unboundmedicine.com/medline/citation/15361946/A_mucolipidosis_III_patient_presenting_characteristic_sonographic_and_magnetic_resonance_imaging_findings_of_claw_hand_deformity L2 - http://www.diseaseinfosearch.org/result/4906 DB - PRIME DP - Unbound Medicine ER -