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Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family.
J Neurol Sci. 1997 Mar 10; 146(2):167-72.JN

Abstract

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.

Authors+Show Affiliations

Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.No 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

9077513

Citation

Umehara, F, et al. "Mucolipidosis III (pseudo-Hurler Polydystrophy); Clinical Studies in Aged Patients in One Family." Journal of the Neurological Sciences, vol. 146, no. 2, 1997, pp. 167-72.
Umehara F, Matsumoto W, Kuriyama M, et al. Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. J Neurol Sci. 1997;146(2):167-72.
Umehara, F., Matsumoto, W., Kuriyama, M., Sukegawa, K., Gasa, S., & Osame, M. (1997). Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. Journal of the Neurological Sciences, 146(2), 167-72.
Umehara F, et al. Mucolipidosis III (pseudo-Hurler Polydystrophy); Clinical Studies in Aged Patients in One Family. J Neurol Sci. 1997 Mar 10;146(2):167-72. PubMed PMID: 9077513.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. AU - Umehara,F, AU - Matsumoto,W, AU - Kuriyama,M, AU - Sukegawa,K, AU - Gasa,S, AU - Osame,M, PY - 1997/3/10/pubmed PY - 1997/3/10/medline PY - 1997/3/10/entrez SP - 167 EP - 72 JF - Journal of the neurological sciences JO - J. Neurol. Sci. VL - 146 IS - 2 N2 - 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. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/9077513/Mucolipidosis_III__pseudo_Hurler_polydystrophy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-510X(96)00301-2 DB - PRIME DP - Unbound Medicine ER -