Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease).

Progressive diaphyseal dysplasia (PDD), a rare disorder of bones, in recent years has been accepted as a systemic disease within the spectrum of connective tissue disorders associated with immunological abnormalities. Steroids have been used in the treatment of PDD with variable success. In this report PDD is described in a 5-year-old boy who presented with leg pain, fatigue, headache and anorexia with an onset in infancy. Physical examination revealed a waddling gait, thorax deformity and thickening in the upper extremities. The diagnosis was made by radiologic demonstration of cortical thickening and a narrowed medullary cavity of the long bones of extremities. Bone scintigraphy showed areas of increased osteoblastic activity in the diaphyseal part of the long bones of extremities and the skull. Electron microscopic examination revealed myopathic and vascular changes. Serum immunoglobulin A, G and M levels were elevated and CD4 positive T cell numbers were low. Deflazacort, a steroid with a similar anti-inflammatory effect to prednisolone but with fewer adverse effects, was started in a dose of 1.2 mg/kg/day. Deflazacort treatment resulted in clinical and radiological improvement within 12 months with no side effects. In conclusion, steroids may be recommended as an effective method of treatment in PDD and deflazacort may be a safe alternative steroid.

Congenital sialidosis.

Congenital sialidosis is a rare disease resulting from the absence of neurominidase and presenting with hydrops fetalis, hepatosplenomegaly, dysmorphic features, vacuolated lymphocytes and extensive vacuolation of the connective tissue. Elevated levels of sialooligosaccharides in the urine is characteristic. We describe a newborn baby with congenital sialidosis and discuss the difficulties in reaching the diagnosis.

The occurrence of lipid droplets in the proximal and distal tubules of the rat kidney after folic acid treatment.

Folic acid in high doses gives rise to an accumulation of lipid droplets in the kidney in addition to other changes in the epithelial of both proximal and distal tubules. With the administration of methionine a decrease of lipid droplets and an improvement of the structures of most of the membranes and mitochrondria are observed. These findings have been discussed in regard to the theory of the "chemically induced hyperplasia of the kidneys" related to folic acid.

Electronmicroscopical investigations of the effects of heparin upon the structural elements of the rat glomerulus.

In this study the ultrastructure of the renal glomeruli was investigated 30 minutes after the intraperitoneal administration of heparin. It was observed that the matrix and fibrillary structure became more abundant in the mesangial cells and also in the epicytes; it was noted that the Golgi apparatus was active and the granular endoplasmic reticulum was very enlarged, partially containing structures of a particular shape. Furthermore, there was a general thickening and a dense accumulation of matter in the basement membrane. It was thought that this was due to the migration of structural elements of the mesangial cells and epicytes to the basement membrane and not because of heparin storage. Therefore we have postulated that these structural changes observed in the glomeruli were not associated with the extrarenal effects (antiinflammatory; anticoagulating and anticomplementary activities) of heparin but that they could be related to its cyto-hormonal action upon the epicytes and mesangial cells.

An electronmicroscopic study of experimental hematogenous pyelonephritis.

This paper consists of an electronmicroscopic study of hematogenous experimental pyelonephritis. In the first 5 days cell degenerations mitochondrial swellings, slight lysosomal increase, rupture of the apical cell membranes, deterioration of the basal labyrinth and a leucocyte-predominant cell infiltration into the interstitial tissue were observed. On the 10th day, beside these common findings, the complete necrosis of the tubular cells was also observed and was supposed to be the result of an increase of lysosomes directly proportional with elapsed time and of the destruction and extreme contraction of the basal membrane. The cause of these destructions was supposed to be primary schaemia and probably the antigen-antibody-complement complex.