799 ADULT GAUCHER DISEASE (TYPE 1) AND COMPOUND HETEROZYGOTE (TYPE 1 AND 2) IN A GREEK FAMILY

Gaucher disease (GD) is an autosomal recessive condition that presents in a variety of clinical forms, better known as adult, infantile and juvenile or Type 1, 2 and 3 GD respectively. A 22 month old greek female presented with history of progressive difficulties in breathing and swallowing and anemia plus splenomegaly noticed at the age of 3 months. She had normal growth and development, physical exam revealed a pale child with clinical picture of “Pseudobulbar palsy”, strabism, abdominal distention, hepatomegaly and massive splenomegaly. She had microcytic anemia, thrombocytopenia, increased acid phosphatase, foam cell in bone marrow aspiration and Erlenmeyer flask deformity of distal femurs. Her Hb electrophoresis, G-6-PD activity, RBC osmotic fragility ferritin, liver enzymes and chest x-ray were normal. There was a history of anemia and splenomegaly in her mother and maternal aunt. Her mother has been asymptomatic since 1981 when she underwent splenectomy. Glucosylceramide-β-glucosidase activity in leukocytes and skin fibroblasts was compatible with homozygote state in both, mother and child and heterozygote in the father. The findings in this family represents a rare compound heterozygote child with clinical manifestations of type 2 GD as result of a mating between a carrier of infantile GD and an homozygote of adult GD. Discrimination between izozymes for type 1 and 2 could have been interesting unfortunately cross reacting material to all 3 forms of the enzyme is commonly seen.