Sanfilippo syndrome
English
Etymology
Named after the US doctor Sylvester Sanfilippo who described the condition.
Noun
Sanfilippo syndrome (uncountable)
- (pathology) mucopolysaccharidosis type III: a rare autosomal-recessive lysosomal storage disease that primarily affects the brain and spinal cord, caused by a buildup of glycosaminoglycans in the body's lysosomes.