Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome

Alstrom syndrome is a rare autosomal recessive disease: less than 60 cases have been reported. No Chinese patient with tills disease has bren reported previously in the literature. Here, we describe an 11-year-old Chinese boy with this condition. His elder sister also had Alstrom syndrome, and his f ather had non-insulin-dependent diabetes mellitus. Both siblings had degene rative retinopathy, obesity, mental retardation, perceptive hearing loss, s hort stature, non-insulin-dependent diabetes mellitus, nephropathy, hyperli pidemia, acanthosis nigricans, and hepatic dysfunction. The boy also develo ped acute lymphoblastic leukemia, which was confirmed by cytochemistry and immunophenotyping findings. He received chemotherapy and radiotherapy for t he malignancy. The present case suggests that acute lymphoblastic leukemia may be coincident with or may be a previously undescribed systemic manifest ation of Alstrom syndrome.