Case reports Acute myelogenous leukaemia in

Hurler's syndrome SUMMARY The occurrence of the Hurler syn-drome and acute myelogenous leukaemia in a 2 year-old girl is described. This represents the first published report of the concurrence of these two diseases. In this report we describe a patient with mucopoly-saccharidosis type I (Hurler's syndrome) (Bach et al., 1972; Stevenson et al., 1976), in whom acute myelogenous leukaemia developed. The occurrence of these two rare diseases in the same person has not been previously documented. Case report A 6-month-old white girl was referred to the Univer-sity of Minnesota Health Sciences Center in Septem-ber 1974 because of a heart murmur. Past medical history showed that the mother's pregnancy and delivery and the patient's newborn period were uncomplicated. At 1 month of age the child was treated for otitis media and at 3 months of age had an episode of severe diarrhoea which required admission to hospital. At 5 months, she developed persistent oral thrush and a urinary tract infection which was suc-cessfully treated with antibiotics. The patient's heart murmur was thought to be caused by a small ventri-cular septal defect which did not require immediate intervention. At the age of 11 months, the patient was admitted to the University of Minnesota Hospitals in acute renal failure caused by persistent diarrhoea and dehy-dration. Physical examination showed facial dys-morphia resembling that of the Hurler syndrome, an umbilical hernia, and hepatomegaly. Radiological examination disclosed the bony changes character-istic of dysostosis multiplex. Blood counts, including a leucocyte differential count, were normal. Exa-mination of blood smears showed cytoplasmic inclusions in approximately 20 % of the lymphocytes. These inclusions were usually coarse, sharply delineated, and surrounded by small clear haloes. They stained darkly with Wright's-Giemsa stain and were metachromatic when stained with toluidine blue. Urinary total acid mucopolysaccharide was 10.6 mg/24 hr (normal: 0-6 mg/24 hr). Urinary excretion of dermatan sulphate was 6.6 mg/24 hr (normal: 0 to 1.0 mg/24 hr) and excretion of heparan sulphate was 1.5 mg/24 hr (normal: 0 to 1.5 mg/24 hr). The diagnosis of mucopolysaccharidosis type I-H was made by the demonstration of defective a-L-iduroni