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Patients with the DMC syndrome have been suggested to possess a specific sulfatase abnormality and/or to be deficient in a proteinase cleaving glycoprotein-acid mucopolysaccharide (AMP) linkage. We have previously found in DMC patients an abnormal excretion of urinary AMPs of which hyaluronic acid and chondroitin sulfate (A + C) were oversulfated and keratosulfate and heparan sulfate were undersulfated. Lysosomal acid proteinase, i.e. cathepsin D (EC 3.4.23.5) and neutral proteinase : elastase (EC 3.4.21.11) and cathepsin G were found to be normal in DMC patients. However, alpha 2-macroglobulin in serum was raised. This increase may be associated with a complex formation of alpha 2-macroglobulin with a neutral proteinase released from the cells. Increased levels of chondroitin sulfate N-acetylgalactosamine-6-sulfate sulfatase and sulfamidase and decreased enzymic levels of arylsulfatase A and B (EC 3.1.6.1) were found in leucocytes of DMC patients. The sulfatase activities assayed in the present study support our theory that a specific sulfatase abnormality may exist in the DMC syndrome.

Two children are reported, who became diseased at the age of 4 and 2 years, respectively, with progressive upper motor neuron symptoms leading to severe disability within a few years. The boy died at age 10 and autopsy disclosed a severe gangliolipidosis throughout the central nervous system, maximal in the brain stem and cerebrellum, corresponding with his early and dominantly bublar symptoms. The girl is still living, although severly disabled. The etiology was confirmed through biochemical studies which showed lower activity of galactosaminidase and galactosidase in frontal lobe tissue from the boy, in liver tissue from the girl. The activity of galactosaminidase A isoenzyme was more than 50 per cent lower in serum from the girl and in serum from healthy relatives of the boy, the father, mother and one of two brothers. Furthermore, the galactosidease activity was within or below the lower normal range limit in leucocytes from relatives of the boy with exception of the father. This abnormality was also encountered in serum from our girl patient.

Temporal lobe epilepsy in particular has been considered a consequence of childhood febrile convulsions. Previous studies have dealt with populations of epileptic children. This retrospective, follow-up study concerns 362 children with a primary diagnosis of febrile convulsions. 4% developed epilepsy. When followed into early adulthood one half of those remitted. The incidence of temporal lobe epilepsy among the none-remitters did not differ from that of a random population of epileptics.