Mucolipidosis II. szokatlan biokémiai paraméterekkel.

INTRODUCTION: A clinical diagnosis of I-cell disease was established in an infant with coarse face, hyperplastic gums, severe growth deficiency, skeletal deformities and retarded psychomotor development. PATIENT/METHOD: Albeit, enzyme measurements in our patient leukocytes and serum including arylsulfatase, hexosaminidase, alpha-fucosidase, iduronate-sulphatase and beta-galactosidase showed no significant alteration, in serum an increased activity of beta-glucuronidase was detected. Enzyme studies in fibroblasts showed an abnormal intracellular/extracellular distribution of enzyme activities, and significantly decreased activity of UDP-N-acetylglucosamine-1-phosphotransferase confirming the diagnosis of I-cell disease. RESULTS/DISCUSSION: In the mother's next pregnancy at 15th week of gestation lysosomal enzyme activities were determined in amniotic fluid and cultured amniotic cells, and the diagnosis of an unaffected fetus was established. Based on our experience we suggest the use of cell cultures for the diagnostics of this rare disease.