SANFILIPPO SYNDROME TYPE-C - A CLINICOPATHOLOGICAL AUTOPSY STUDY OF ALONG-TERM SURVIVOR

A 39-year-old Japanese woman with Sanfilippo syndrome type C is report ed. Developmental delay was observed during infancy and progressive in tellectual deterioration became apparent at 2 years, Her gait became u nsteady and she became bed-ridden at 22 years of age, An intestinal fi stula was made because of pyloric stenosis possibly caused by accumula tion of mucopolysaccharide at 37 years of age. She died of acute cardi ac failure at age 39 years, Pathological changes were marked in the he art and brain, Focal necrosis of myocardial fibers with replacement fi brosis and many vacuolated cells were observed between the muscle fibe rs and there were many vacuolated cells in the pyloric ring, There was severe neuronal loss with gliosis and massive corpora amylacea format ion in the cerebral cortex, especially in layers 2 and 3. Ballooning o f neurons was less prominent than neuronal loss, There were many vacuo lated cells in the mesenchymal tissues; however, this finding was much less prominent than in other types of mucopolysaccharidosis. Our pati ent survived much longer than others with Sanfilippo syndrome type C o f similar severity.