Acute promyelocytic leukemia with t(15;17) and t(2;17;15).

Cytogenetic examination in a case of acute promyelocytic leukemia (FAB-M3) demonstrated a stem line with t(15;17) and a side line with t(2;17;15). This observation indicates either clonal evolution from the standard translocation or a de novo complicated translocation. Previous cases with three-way translocations in acute promyelocytic leukemia have been reviewed. Three-way translocations seem to occur with similar frequency in M2 and M3 types of acute myeloid leukemia and in chronic myelocytic leukemia.

Clinical results of early and late operative correction of undescended testes.

Operative treatment of undescended testes was performed in 556 boys (695 testes). The histopathological changes in the testicular tissue were more severe in older patients. However, post-operative clinical results were found to be significantly better in boys treated immediately before puberty than in boys treated at an earlier age.

Congenital hepatic fibrosis combined with protein-losing enteropathy and recurrent thrombosis.

Two siblings, suffering from recurrent thrombosis and protein-losing enteropathy are presented. Histopathological examination of the liver in one of the patients, who died of multiple thrombosis, showed changes characteristic of Congenital Hepatic Fibrosis. Coagulation studies in the second child revealed decreased antithrombin-III in plasma, which might have had pathogenetic implications for the thrombosis tendency seen in both patients.

Refractory Pneumocystis carinii infection in chronic granulomatous disease: successful treatment with granulocytes.

Pneumocystis carinii pneumonia developed in an 11-year-old girl with chronic granulomatous disease who had normal cellular and humoral immunity. The patient remained febrile during treatment with sulfamethoxazole-trimethoprim and pentamidine but became afebrile when treated with a series of 12 granulocyte transfusions combined with sulfamethoxazole-trimethoprim. In addition to documenting P carinii infection in chronic granulomatous disease our findings suggest that granulocyte transfusions may be of value in the treatment of severe infections in chronic granulomatous disease.

Elevated serum proinsulin in beta cell nesidioblastosis. Report of a case in a newborn.

A newborn infant with severe hypoglycaemia and nesidioblastosis was subjected to subtotal pancreatectomy without any sign of improvement. In spite of very low plasma levels of glucose (i.e. less than 1 mmol/l) plasma insulin concentrations were high (i.e. greater than 700 pmol/l). Plasma proinsulin was considerably enhanced comprising 43% of the total insulin immunoreactivity. Plasma glucagon concentrations were normal. Postoperatively normal to subnormal plasma glucose levels could only be maintained by treatment with frequent meals, diazoxide and intramuscular injections of a long-acting glucagon preparation. With time, signs of mental retardation became obvious.

Histology of nasal polyps of different etiology.

The aim of the present study is to elucidate the correlation between etiology and histology in nasal polyps with special regard to cystic fibrosis (CF). Nasal polyps from 15 children with CF and a control group of non-CF polyps from 15 adult patients were examined by light-microscopy. The histological evaluation was carried out on a blind basis in order to avoid bias. Among the parameters used, the tissue eosinophilia proved to be the most valuable factor in the differentiation between CF and non-CF polyps, as only few eosinophils were found in the CF-polyps. The polyp glands were few and generally pathological. Some characteristics abnormalities in the grandular morphology are apparently more common in CF polyps. It is concluded, that the histological examination of nasal polyps is of importance for the correct classification of the patient, but the diagnosis of CF cannot be made based on microscopy of polyps. Further studies including blinded histological examination of nasal polypous tissue might contribute to a more differentiated diagnose of nasal polyposis.

Familial adrenocortical hypoplasia with early clinical and biochemical signs of mineralocorticoid deficiency (hypoaldosteronism).

Biochemical investigations in a boy with a salt losing syndrome revealed a very low secretion of aldosterone which did not rise during salt deprivation, in spite of a normal rise in plasma renin activity. Cortisol secretion was normal - but subsequently decreased, while the corticosterone secretion was high. The patient was studied at the age of 5 weeks, 3 months and also at the age of 8 months. He survived until the age of 18 months on treatment with sodium chloride and DOCA, but did not receive glucocorticoids. At autopsy the adrenal glands were absent, but in fat tissue from the upper renal poles foetal adrenal cortex tissue was found. The histological picture agrees well with other cases which could be designated as "foetal-cortex-only" adrenal hypoplasia. The same histological changes were demonstrated in the boy's brother who died suddenly at the age of 6 weeks. The boy's testes were advanced in maturation to a stage of about ten years: spermatocytes and Leydig cells were present.

Foamy histiocytosis of the spleen in patients with chronic thrombocytopenia.

In 17 of the 64 spleens removed from patients with chronic thrombocytopenia lipid-laden histiocytotes were demonstrated. No correlation was found between these pathological findings and the age of the patients at diagnosis or splenectomy, the duration before splenectomy of therapy with glucocorticoids, the period with thrombocytopenia or the platelet count. 7 of the patients, who relapsed after splenectomy had lipid-laden histiocytes in their spleens i.e. 58% of the patients with relapse, compared with 10 patients with foamy histiocytosis and without relapse i.e. 19% of the patients without relapse. At follow up, 3 of the 17 patients with splenic histiocytosis still had thrombocytopenia, compared with 1 of the 47 patients without foamy cells. Foamy histiocytosis of the spleen from a patient with chronic thrombocytopenia may indicate a dubious prognosis.

Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease.

The distribution of copper among the organs of an aborted, male foetus, expected to develop Menkes' syndrome, was entirely different from the distribution in 4 normal foetuses. Copper concentrations determined by neutron activation analysis showed a considerably reduced content in the liver, but increased concentrations in the other organs analysed; total foetal copper was normal.