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Sanfilippo syndrome type C: a clinicopathological autopsy study of a long-term survivor
M Kurihara1, K Kumagai, S Yagishita
1Department of Pediatrics, Kanagawa Rehabilitation Center, Japan.
Insights
This case report details a Japanese woman with Sanfilippo syndrome type C, highlighting her prolonged survival despite severe neurological and cardiac pathology. The study documents the clinical course and pathological findings in this rare mucopolysaccharidosis.
Area of Science:
- Biomedical Science
- Genetics and Genetic Diseases
- Neurology
Background:
- Sanfilippo syndrome type C is a rare genetic disorder characterized by progressive neurodegeneration.
- Mucopolysaccharide accumulation leads to multi-systemic complications, impacting development and lifespan.
Observation:
- A 39-year-old Japanese female with Sanfilippo syndrome type C presented with infantile developmental delay and progressive intellectual deterioration.
- Clinical course included gait unsteadiness, becoming bed-ridden by age 22, and developing an intestinal fistula due to possible mucopolysaccharide-induced pyloric stenosis at 37.
- The patient died at age 39 from acute cardiac failure.
Findings:
- Pathological examination revealed significant cardiac and cerebral changes, including myocardial fiber necrosis, fibrosis, and vacuolated cells in the heart and pyloric ring.
- Severe neuronal loss, gliosis, and corpora amylacea formation were prominent in the cerebral cortex.
- Vacuolated cells in mesenchymal tissues were less pronounced compared to other mucopolysaccharidoses.
Implications:
- This case demonstrates prolonged survival in Sanfilippo syndrome type C, exceeding typical outcomes for similar severity.
- Detailed pathological findings offer insights into the long-term effects of mucopolysaccharide accumulation.
- Further research into factors contributing to extended survival may inform therapeutic strategies for Sanfilippo syndrome and related lysosomal storage diseases.
Abstract:
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 myocardial fibers with replacement fibrosis and many vacuolated cells were observed between the muscle fibers and there were many vacuolated cells in the pyloric ring. There was severe neuronal loss with gliosis and massive corpora amylacea formation in the cerebral cortex, especially in layers 2 and 3. Ballooning of neurons was less prominent than neuronal loss. There were many vacuolated cells in the mesenchymal tissues; however, this finding was much less prominent than in other types of mucopolysaccharidosis. Our patient survived much longer than others with Sanfilippo syndrome type C of similar severity.