[The infantile chronic-visceral form of niemann-Pick diseases (author's transl)].

A report was made of three patients who exhibited pronounced heptosplenomegaly at the time of hospital admission: a six-year-old girl and two brothers, 1 year 4 months and 4 years 4 months of age. As is typical for Niemann-Pick disease, foam cells were found in the bone marrow and the liver biopsy specimens for the three patients. Since, however, none of the children had syptoms involving the central nervous systems, the disease must have been the rare B form of Niemann-Pick disease, the infantile chronic-visceral form.

Types of enzymatic overdosing in trisomy 21: erythrocytic superoxide dismutase-AJ and phosphoglucomutase.

A comparative study was carried out on the hemolysates of 6 trisomic 21 and 6 normal subjects, by electrophoresis in starch gel, determining by a combined staining method both SOD-A (former IPO-dimer) and PGM activity. The enzymes were found statistically to be in a hyperactive status, the ratio of trisomic to normal values being approximately equalt to 1.4.