case of mucopolysaccharidoses: hurler's disease

An 11 months old male infant was admitted in the department of paediatrics, Shaikh Zayed Hospital, Lahore on June 3, 1987 with a scrotal swelling lumbar Kyphosis, distended abdomen and gross hepatosplenomegaly. The patient was found to be small for age with mental retardation, frontal bossing, coarse features and marked nasal obstruction. X-rays showed short, expanded inetacarpals of both wrists and L, revealed an anterior inferior beak with some flattening of adjacent vertebrae suggestive of Hurler's disease. Positive M.P.S. [mucopolysacchariodoses] tests and progressive contest clouding strongly supported this diagnosis