Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis.

Two new deficient glucose-phosphate-isomerase (GPI) variants have been described in patients suffering from severe chronic hemolytic anemias. The patients' parents were consanguineous, such that the patients were true homozygotes for the mutated GPI genes. In both cases the main cause of the defect in enzyme activity was molecular instability of the mutated GPI molecules, their catalytic activity being nearly normal.

[Adenomegalic cytophagic sinusal histiocytosis. Morphological and immunologic study of a case].

The case of a 14-year-old boy of North-African origin, presenting a phagocytic sinus histiocytosis is reported. The main features of this now classical disease are illustrated: its localization to the neck, its chronicity, the fact that it is well tolerated, the pseudotumoral appearance of the adenomegaly as well as the intensive phagocytic (essentially lymphocytophagic) activity of the sinus macrophages. The bringing to light in a picture of hyperimmunity of an elevated percentage of antibodies against the measles and EB viruses, associated with a temporary depression of the cellular immunity, suggest that this lymphophagocytosis could be controlled and facilitated by preferential opsonization of lymphoid cells carrying on their membrane the antigen of the virus or viruses initially responsible.

[Relapsing erythroblastopenia. A case followed during 22 years (author's transl)].

Relapsing erythroblastopenia has been observed in a girl from when she was a baby to 22 years of age. The three episodic crisis of erythroblastopenia occurred when she was 2 months, then 6 and 19 years old, and recovered spontaneously after periods of 3, 18 and 30 months respectively. The authors did not find any cause for the disease and the various treatments were useless.

[Bone marrow insufficiency in the child and androgen therapy. Preliminary results of a prospective schedule of examination and treatment].

The preliminary results of a prospective study of androgen therapy in the treatment of bone marrow insufficiency in children are reported. This study includes 11 children with the Fanconi syndrome, 21 idiopathic and 3 with toxic aplastic anaemia. Nine patients died early in the course of treatment.

[Retroperitoneal fibrosis with cholestatic onset 4 years before malignant lymphoma].

A 9 year old boy presented an "idiopathic" retroperitoneal fibrosis. Fibrosis extended to the liver, compressing the major biliary tree, the portal vein, the urinary tract and the inferior vena cava. The process led two successive bilio-digestive shunts and was controlled after one year corticosteroid treatment.