Abstract
A case with mucolipidosis was reported. The patient was a child of the parents of consanguineous marriage.
She was hospitalized with the chief complaint of impaired visual acuity at 10 years and 8 months of age.
Clinical pictures consisted of abnormal gargoylelike face, moderate degree of mental retardation, cherry red spots and mild dysostotic deformities. There was no increased excretion of mucopolysaccharides in urine.
Lymphocytes in the peripheral blood and bone marrow showed vacuolized cytoplasm. Lipid was deposited in the cytoplasm of the ganglion cells in the biopsy specimens from the appendix; ultrastructurally, pleomorphic lamellated bodies and lysosomelike bodies were observed in the same area.
There were no inclusions in the cultured skin fibroblasts.Activities of β-galactosidase and hexosaminidase were normal in serum.
After the intravenous infusion of normal plasma containing leucocyte to the patient, the excretion of the total mucopolysaccharides and their degradation products increased in her urine although there were no changes in clinical manifestations.
