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Biomedical subjects

C G Ljunggren

Publications and source records attributed to C G Ljunggren.

6 recordsLinked to original sources
PubMed1993

New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.

A family with an X-linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood. We conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.

Abnormalities, Multiple↗
PubMed1988

Thrombocytopenic purpura and coeliac disease.

In a child with immune thrombocytopenic purpura (ITP) the findings of circulating reticulin antibodies and IgA and IgG gliadin antibodies suggested the diagnosis of coeliac disease. This was verified by small intestinal biopsy. In spite of a gluten-free diet the thrombocytopenia persisted. The association of ITP and coeliac disease was previously described in adults but to our knowledge this is the first report of the coexistence of ITP and coeliac disease in a child.

Celiac Disease↗
PubMed1978

Neurovisceral storage disorder simulating Niemann-Pick disease. A new form of oligosaccharidosis?

Two sisters are described with demonstrable splenomegaly already from infancy and, after the age of 2--4 years, signs of slowly progressive encephalophy, vacuolated lymphocytes in the peripheral blood, and peculiar foam cells in the bone marrow aspirates. The died at 7 3/4 and 6 1/2 years. Widely spread in the brain, the nerve cell bodies were found to show extensive ballooning. It was most striking in the brain stem and spinal cord, while cerebellar structures were remarkably well preserved. The cytoplasm of the ballooned nerve cells was filled with finely granular storage material stainable as a readily soluble glycolipid. The spleen, liver and intestinal wall contained numerous foamy PAS-positive macrophages. Chemical assays showed a ten-fold increase of lactosylceramide and a modest one of minor gangliosides brain cortex. No accumulation sphingomyelin could be revealed, and the sphingomyelinase activity was found to be normal. The ganglioside GM1 beta-galactosidase activity of leucocytes was reduced to 20--25% of normal, which indicated a disturbance of the glycosaminoglycan metabolism. The tissue content of glycosaminoglycans was, however, normal, but an accumulation of lactose was demonstrated in the spleen. It is postulated that the primary enzymic defect is a disturbance of a lysosomal beta-galactosidase with a substrate specificity for lactose and other oligosaccharides with a terminal beta-galactosidic linkage.

Bone Marrow↗