Sanfilippo syndrome

English

Etymology

Named after the US doctor Sylvester Sanfilippo who described the condition.

Noun

Sanfilippo syndrome (uncountable)

1. (pathology) 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.

   Synonym: mucopolysaccharidosis type III