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Congenital erythropoietic porphyria, a disorder of haem synthesis, is caused by uroporphyrinogen III synthase deficiency in bone-marrow normoblasts. Uroporphyrins and coproporphyrins accumulate and cause oxidative damage to cells exposed to sunlight. Uroporphyrin overproduction was greatly reduced and skin changes reversed in a girl who received a(More)
  • D I Evans
  • 1975
Two boys with Down's syndrome, recognized at birth, developed acute myelogibrosis at the ages of 19 and 21 months. The disorder presented with anaemia and splenomegaly, and clinically resembled acute leukaemia, but bone marrow histology showed a bizarre pattern with generalized fibrosis, markedly increased reticulin, large reticulum cells, and giant cells(More)
A brother and sister of Pakistani origin suffered from sensorineural deafness, diabetes mellitus and a macrocytic anaemia. Their bone marrows showed megaloblastic erythropoiesis and contained many ringed sideroblasts. Electron microscope studies of the bone marrow revealed (1) iron-laden mitochondria in many erythroblasts, (2) non-specific abnormalities(More)
A consecutive series of 209 children with acute lymphoblastic leukaemia (ALL) presenting to a regional referral unit between 1970 and 1977 was studied. The following morphological features in the initial bone marrow were recorded: blast size, percentage periodic acid-Schiff (PAS) and oil-red-O (ORO) positivity, percentage of blasts with vacuoles, and acid(More)
A prospective study of bone marrow fibrosis was made in a group of 40 children with acute lymphoblastic leukaemia to see whether it affected the prognosis or course of the disease. Secondary myelofibrosis (SMF) was present at diagnosis in 57% of the cases. It was not statistically significantly related to the prognosis or course of the disease. Thus,(More)
In a series of six cases of sex-linked agammaglobulinaemia neutropenia occurred as a presenting feature in four and during the presenting illness in the other two. The six patients all had low antibody titres and absent or low immunoglobulin concentrations with normal concentrations of T cells and absent B cells. The patients were all first seen with(More)
In 19 cases of lymphocytic meningitis, the radioactive bromide partition test showed that four were tuberculous and 15 viral in origin. In all the tuberculous cases the serum/cerebrospinal fluid bromide ratio was below a critical value of 1.6, and in all the cases of viral meningitis the ratio was above this value. The test may be particularly helpful when(More)
Three new cases (two fatal) of postsplenectomy sepsis occurring 14, 25, and 26 years after operation for hereditary spherocytosis are described. There are now 25 cases in the published work in which this complication occurred 10 or more years after operation, 14 of which were fatal. The mean age of onset is 37 years. The features of the disease are similar(More)
Bone marrow transplantation was performed in a patient with alpha-mannosidosis. To our knowledge this is the first time such treatment has been attempted. The patient died 18 weeks after successful grafting and specimens of tissues were obtained at necropsy. Alpha-mannosidase activity in spleen and liver was just below normal (spleen 102 mumol/g/hour,(More)