Gaucher's disease with severe mental retardation, growth retardation, delayed bone age and persistent HbF: a case report

ABSTRACT

A 4.5 years old boy with anemia and gross hepatosplenomegaly was referred to the Human Genetics Department as a thalassemia major case for investigtion. Haematological and electrophoretic findings were not compatible with thalassemia major. The diagnosis of Gaucher's disease, type III, was established according to the clinical, haematological and bone marrow studies. The elevated serum acid phosphatase confirmed the diagnosis. The normal parents and affection of 3 sibs with similar condition were consistent with the autosomal recessive mode of inheritance. The condition was associated with severe mental retardation, growth retardation, delayed bone age and persistent Hb F