Sanfilippo syndrome (mucopolysaccharidosis-III)

Abstract

Clinical, radiological, electromyographic, histopathological and biochemical findings of 2 cases of MPS III syndrome are described. Both these patients showed a clinical resemblance to MPS I, the more striking resemblance being noted in Case 1. On biochemical studies, both the patients showed a marked disturbance of heparan sulphate. In addition, in Case 1, a mild disturbance of dermatan sulphate was noted in the brain. At autopsy, the neuronal involvement in the disease process was noted at all levels of the central nervous system. Peripheral nerve and muscle biopsies done on 1 patient showed evidence of demyelination and "group muscle fibre atrophy". Electron-microscopic findings on the brain tissue are described in 1 of the patients. These cases are compared with other reported cases of this syndrome and it is suggested that these patients differ phenotypically from some of the cases described in the literature. The literature on various aspects (clinical, radiological, histopathological, and biochemical) of this syndrome is reviewed.