Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency.

An 18-month-old girl presented with macrocytic megaloblastic anaemia followed by haemolytic uraemic syndrome. Metabolic investigations led to the identification of an inborn error of cobalamin metabolism consisting of defective methylcobalamin biosynthesis, probably cobalamin G, since methionine synthase activity was decreased under standard reducing conditions. Despite treatment, pulmonary hypertension progressively developed and responded to oxygen therapy.

Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature.

Background: Hepatocellular adenomas may develop in patients with glycogen storage disease types I and III, and the malignant degeneration of adenomas in hepatocellular carcinoma has been reported in ten cases. The aim of this work was to study the characteristics of hepatic adenomas in a large series of 43 patients with glycogen storage disease types I and III and to determine the optimal means of follow-up.

Methods: The charts of 43 patients with glycogen storage disease type I and III were studied.

[Acute lipid pneumopathy].

Background: Lipid pneumonia in children has rarely been described in Europe. In some countries, due to local customs, the course is chronic. This study describes an acute lipid pneumonia in a young boy.