Two cases of mucopolysaccharidosis

Abstract

Case 1 An obese 6-yr-old boy was rejected from the Paeroa School for Intellectually Handicapped Children because of the development of severe mental deficiency. Facial fullness and wedging of the first lumbar vertebra prompted the forwarding of urine to the University of Auckland. The urinary mucopolysaccharide output was reported to be 15 times greater than normal, with an excess of dermatan sulphate over heparan sulphate. A fibroblast skin biopsy was sent to the Adelaide Children’s Hospital in 1977. This was reported as showing zero Iduronosyl sulphate sulphatase levels consistent with Hunter’s syndrome (Mucopolysaccharidosis type II). Currently, frozen leucocytes have been sent to Adelaide from female relatives for enzyme studies. Case 2 Beaking of the first and second lumbar vertebrae was noted in a Maori boy of 5 mth in 1974. He was being investigated at Waikato Hospital for persistent pulmonary infection. The urinary mucopolysaccharides were found to be largely heparan. In 1976 a fibroblast skin biopsy was studied at the Department of Community Health, Auckland, by cross correction studies. In 1978 a further skin biopsy was taken and forwarded to the Adelaide Children’s Hospital for enzyme studies. With heparan sulphamidase virtually absent the case has been defined as Sanfilippo type A (Mucopolysaccharidosis type IIIA).