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