[Intravenous immunoglobulins (IVIG) in treatment of an antiphospholipid syndrome in pregnancy].

A patient with a history of early onset preeclampsia and repeated fetal death, high titer IgG anticardiolopin antibodies and prolonged aPTT was treated during her third pregnancy with intravenous immunoglobulins (IVIG) from the seventh month of pregnancy onwards. Every month--after a loading dose of 30 g immunoglobulins--a daily infusion of 3 g immunoglobulin was for three days was given during six consecutive cycles. The patients pregnancy ended preterm with a life birth, delivered by cesarean section, because of a severe preeclampsia.

[Prenatal diagnosis of sialidosis, a defect of the lysosomal enzyme neuraminidase].

Sialidosis, a lysosomal storage disease, ranged as oligosaccharidosis, is a genetic enzyme defect with a significantly restricted survival rate of the child concerned. After the preceded birth of a child who died of sialidosis, we succeeded in the correct prenatal exclusion of the disease with the prediction of a heterocygotic carrier status by biochemical analysis of cultivated amnion cells. The growth of these cells as well as the postnatal examined fibroblasts was significantly reduced.

Childhood neuromuscular disease with rimmed vacuoles.

A 5-year-old boy suffered from a slowly progressive non-familial neuromuscular disease, clinically marked by generalised muscle weakness, atrophy and hypotonia, a "myopathic" EMG and mildly elevated CK values. His gastrocnemius muscle showed marked myopathy, type I fibre predominance, and numerous "rimmed" vacuoles. This boy's condition is regarded as a childhood neuromuscular disease with rimmed vacuoles.

The clinical spectrum of alpha-L-iduronidase deficiency.

We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations.