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A case study of a male patient with early infantile galactosialidosis and the identification of a novel mutation in CTSA. Topics discussed include observation of an increase in abdominal volume with abdominal distension, cutis marmorata, bilateral hydrocele and high blood pressure; clinical, biochemical and nutritional assessment performed; and the absence of GLB1 activity confirmed the diagnosis of galactosialidosis in leukocytes.

Agranulocytosis is one of the most serious side effects to drugs. From January 1991 to June 1996 were diagnosed 19 cases of agranulocytosis associated with drugs at our hospital (incidence rate: 9.4 over million hab. per year). The average age was 62 and 11 cases were women. The drugs most commonly involved were metamizol and ticlopidine. In 15 of the patients fever blew up and 16 presented some infectious location. In 9 of the cases some positive microbiological culture was obtained, gram-negative bacilli being the commonest. G-CSF was used in 13 of the patients, observing a quicker haematological recovery (5.7 days vs 9.1, p = 0.07), though without any difference in mortality, which was of 0%. All this leads to the following conclusions: a high incidence of agranulocytosis in our environment and the important role of metamizol and ticlopidine in its origin.

A child with AIDS is presented who developed L1-ALL while being treated for L3-AL. After achievement of complete remission of the former, he suffered a relapse with L3 morphology. Although the possibilities of a shift in both the morphology and the immunophenotype of ALL in relapse are well known, the rarity of L1-ALL in association with AIDS is stressed by the authors, along with the factors related with the morphologic and phenotypic changes shown by these patients.

Megaloblastic anaemia is very rare in the first weeks of life and it is related to impaired metabolism of folic acid or vitamin B12. One of this disorders is the congenital transcobalamin II deficiency. The case of a three month old infant, with vomiting, diarrhoea and severe anaemia is presented. Both parents and the child had very low or undetectable levels of serum TC II, respectively. Using i.m. hydroxycobalamin at high doses, the clinical and laboratory responses have been satisfactory.

The authors reviewed 92 patients diagnosed as ALL. Age range was 1 to 12 years (x = 5 years), 50 males and 42 females. The patients were classified as high risk, intermediate and low risk according to the following prognostic factors: sex, age at diagnosis, visceromegaly, adenopathy, initial WBC, HB, immunoglobulins, and platelets, FAB morphological classification, and bone marrow response to initial therapy, immunological markers, CNS infiltration and mediastinal mass. The previous factors were analyzed individually and also the results obtained with each risk group according to the treatment applied.