[Infantile cortical hyperostosis (the Caffey-Silvermann syndrome)].

In 1984-1989 at the First Paediatric Clinic of the Motol Faculty Hospital six patients with the diagnosis of infantile cortical hyperostosis (Caffey-Silvermann syndrome) were hospitalized. Non-familial concurrence of the disease was involved. All children developed the disease before the age of 4.

[Familial cerebral degeneration with myocardial involvement and dyserythropoiesis].

A combination of dyserythropoietic anaemia, encephalopathy and cardiomyopathy was found in two siblings of different sex. They shared the same clinical history and pathomorphology what made authors suppose that it was a new not yet described syndrome with presumed autosomal recessive heredity.

[Long-term catheterization of the central venous system in children].

The authors explain the principle of central venous catheters (CVC) for long-term use, indicators for insertion, mode of insertion and principles of care of children with these special CVC. The authors inserted since 1982 42 CVC of the Broviac-Hickmann type in 32 children (age 22 days--15 years; body weight 2.4-17 kg).

A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin.

Three males (aged 10 years, 3 years 9 months and 2 years 8 months) with profound sphingomyelinase deficiency are presented. The sphingomyelin storage in the liver biopsies attained 30-fold, 65-fold and 16-fold increases against controls, respectively. Levels of bis(monoacylglyceryl) phosphate were also increased.

[Disseminated histiocytosis X].

Three cases of 4-year-, 16-month- and 8-month-old children suffering from a disseminated form of histiocytosis X showed overlapping of Hand-Schüller-Christian syndrome and Letterer-Siwe syndrome in clinical picture, biopsy and autopsy. Morphological lesion does not develop simultaneously in all the organs. Some of them tend to steatosis and fibrosis of histiocytosis infiltrations, which the others do not.