Sanfilippo syndrome type C: a clinicopathological autopsy study of a long-term survivor
M Kurihara, K Kumagai, S Yagishita - Pediatric neurology, 1996 - Elsevier
A 39-year-old Japanese woman with Sanfilippo syndrome type C is reported.
Developmental delay was observed during infancy and progressive intellectual deterioration
became apparent at 2 years. Her gait became unsteady and she became bed-ridden at 22
years of age. An intestinal fistula was made because of pyloric stenosis possibly caused by
accumulation of mucopolysaccharide at 37 years of age. She died of acute cardiac failure at
age 39 years. Pathological changes were marked in the heart and brain. Focal necrosis of …
Developmental delay was observed during infancy and progressive intellectual deterioration
became apparent at 2 years. Her gait became unsteady and she became bed-ridden at 22
years of age. An intestinal fistula was made because of pyloric stenosis possibly caused by
accumulation of mucopolysaccharide at 37 years of age. She died of acute cardiac failure at
age 39 years. Pathological changes were marked in the heart and brain. Focal necrosis of …
