Ruth Wegelius

TRANSIENT ERYTHROBLASTOPENIA IN CHILDHOOD A Study of 15 Cases

ABSTRACT. A survey is presented of 15 patients from the Aurora Hospital and 35 patients reported in the literature with transient erythroblastopenia of childhood (TEC). The children were hospitalized because of pallor and tiredness, some of them having signs of mild infection. They displayed normochromic anaemia, reticulocytopenia and erythroblastopenia during the severe stage of the disease. In addition, they had moderately high values for serum iron and iron‐binding saturation. No other haematological, chemical or cytogenetic abnormalities could be demonstrated. 80% of the children were between 6 and 48 months old and the sexes were equally affected. In the 15 patients from the Aurora Hospital a barely significant (p=0.02‐0.05) association with blood group A was recorded. Remission, indicated by a rise in the reticulocyte count, begins within a week after the diagnosis is made, even without treatment. The aetiology of the disease is unknown. Analysis of the red blood cell population at the time of diagnosis indicates that damage to the red cell precursors has occurred 2–3 months before the child is brought for examination.

Erythraemic myelosis (di Guglielmo) in an infant.

An infant of 2 months exhibited aneanaemia, combined with a hyperplastic reaction of the erythropoietic organs. Nucleated red blood cells were found in the peripheral blood but no reticulocytosis. The spleen was enlarged. In spite of the hyperplasia of the erythropoietic organs no sign of increased erythropoiesis could ever be found. The nucleated red cells showed signs of disturbance in the normal course of maturation, mainly evidenced by a persistent basophilia of the cytoplasm and by severe malformations of the nucleus in a later stage of maturation. No antianaemic agents had any effect on the anaemia and the infant was kept alive by repeated, continuous blood transfusions. He was also given a course of ACTH with apparent good effect. Splenectomy was performed when the child was in good condition after a course of ACTH and continuous transfusion. After this the child was temporarily in comparatively good health but in no better condition than when receiving continuous blood transfusions. The illness lasted for one year and five months after the child was admitted to hospital the first time, and ended with his death.

Diagnosis of Folic Acid Deficiency by Determination of Urinary Formimino Glutamic Acid

in this test the incidence of positive cases has been 5-6 per thousand. Even in these cases there is a condition of pre-dislocation in the newborn infants which may give rise to dislocation, if left untreated. About 60% have been treated in paediatric out-patient departments and about 40 % have been referred to orthopaedic clinics. The 1948-1960 material of congenital dislocation of the hip in children referred to orthopaedic clinics was analysed, among other things in respect to age at diagnosis. Prior to 1951 no case was diagnosed in a newborn infant, and about 85% of the cases were not diagnosed until after the age of one year. Despite the increasing number of newborn infants admitted during the most recent years, the total number of cases treated in the orthopaedic clinics has not appreciably increased. From 1959-1960 a total of 230 were treated, 6876 of which were diagnosed during the first week of life. Only 23% arrived for treatment after the age of one year. In cases of dislocation it was investigated in which maternity department or home the baby had been born. 127 children, who had not shown signs of pre-dislocation as newborns and who had been born in maternity departments or homes where the hip joints are investigated, were later admitted with dislocation. It is doubtful, however, whether the hip joints have in fact been investigated in all these cases. The number of such cases has considerably decreased in the course of these years, as greater experience has been gained. The material from maternity clinics with the greatest experience shows that at least 90% of the dislocations which may be expected to appear during childhood may be diagnosed as pre-dislocations during the first week of life. Thereby, they are accessible to immediate treatment, and follow-up on a treated series shows that with immediate treatment the development of the joint runs a normal course in at least 90% of the cases.

9 CHANGE IN CELLULAR PHENOTYPE FROM LYMPHOID TO ERYTHROID IN A CASE OF ALL

Acute leukemia was diagnosed in a three months old boy. Blood leukocyte count was 97×109/1, 92% of the cells were morphologically small lymphoblasts which according to surface marker analysis were of the common-ALL (non-T non-B) type. Remission was achieved with initial treatment. During relapse five months later a morphologically different leukemic cell appeared in the bone marrow, blood and liquor. This cell type which dominated during the terminal stage of the disease was larger and had an abundant basophilic cytoplasm. PAS, sudan and myeloperoxidase staining gave negative results. Neither T nor B lymphocyte markers were seen but a strong surface expression of glycophorin A was found by indirect immunofluorescence and immune precipitation from surface labeled leukemic cells with specific rabbit anti-glycophorin antiserum. Bone marrow karyotype analysis gave in about 80%: 47,XY,+8,t(4:11) indicating that this blast cell represented a malignant clone. As glycophorin A is expressed exclusively on erythroid cells and their precursors, this finding indicates a change from a lymphoid to an erythroid phenotype of the leukemic cells during the course of the disease.