[Hepatopulmonary syndrome: a complication of type 1 Gaucher disease]. / Syndrome hépatopulmonaire: une complication de la maladie de Gaucher de type 1.

Gaucher's disease is a not exceptional lysosomial disease in Tunisia. Type 1 is by far the most common one. Pulmonary involvement is considered to be rare in type 1 Gaucher's disease. Pulmonary hypertension, infiltration of the lungs with Gaucher cells, and severe hypoxemia due to intrapulmonary arterial-venous shunts, have been described in case reports and small case series. We reported the case of hepatopulmonary syndrome in a 14-year-old boy with type 1 Gaucher disease. The diagnosis of Gaucher disease was established, at 2 years age, by enzyme assay of leucocyte ß-glucosidase. The patient presented dyspnoea, digital clubbing and cyanosis of the lips. The arterial blood gas found severe hypoxaemia with PaO(2) at 56.9 mmHg. The diagnosis of hepatopulmonary syndrome, in our patient, was confirmed by demonstration of the intrapulmonary shunting using contrast-enhanced echocardiography and the technetium-99m-labeled macroaggregated albumin. The patient was treated by symptomatic measure, long term oxygen therapy because the insufficiency of the enzyme replacement therapy. Screening for hypoxemia in children with liver disease should be considered.

Primary hepatic leiomyosarcoma. A case report with immunohistochemical studies and review of the literature.

A case of primary hepatic leiomyosarcoma is documented with the use of intermediate filament and actin isoform antibodies. The majority of the tumour cells were positive with alpha smooth muscle actin antibody and about 20% with anti-desmin antibody indicating their smooth muscle nature. A review of the literature revealed 16 previously documented cases.