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Mucolipidosis III presenting as a rheumatological disorder.
J Rheumatol. 1993 Jan; 20(1):133-6.JR

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, Rambam Medical Center, Haifa, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8441145

Citation

Brik, R, et al. "Mucolipidosis III Presenting as a Rheumatological Disorder." The Journal of Rheumatology, vol. 20, no. 1, 1993, pp. 133-6.
Brik R, Mandel H, Aizin A, et al. Mucolipidosis III presenting as a rheumatological disorder. J Rheumatol. 1993;20(1):133-6.
Brik, R., Mandel, H., Aizin, A., Goldscher, D., Ziegler, M., Bialik, V., & Berant, M. (1993). Mucolipidosis III presenting as a rheumatological disorder. The Journal of Rheumatology, 20(1), 133-6.
Brik R, et al. Mucolipidosis III Presenting as a Rheumatological Disorder. J Rheumatol. 1993;20(1):133-6. PubMed PMID: 8441145.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mucolipidosis III presenting as a rheumatological disorder. AU - Brik,R, AU - Mandel,H, AU - Aizin,A, AU - Goldscher,D, AU - Ziegler,M, AU - Bialik,V, AU - Berant,M, PY - 1993/1/1/pubmed PY - 1993/1/1/medline PY - 1993/1/1/entrez SP - 133 EP - 6 JF - The Journal of rheumatology JO - J. Rheumatol. VL - 20 IS - 1 N2 - 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. SN - 0315-162X UR - https://www.unboundmedicine.com/medline/citation/8441145/Mucolipidosis_III_presenting_as_a_rheumatological_disorder_ L2 - http://www.diseaseinfosearch.org/result/4906 DB - PRIME DP - Unbound Medicine ER -