Dilated Perivascular Spaces: An Informative Radiologic Finding in Sanfilippo Syndrome Type A

摘要: Mucopolysaccharidosis type IIIA, or Sanfilippo syndrome A, is a lysosomal storage disorder caused by deficiency of heparan N-sulfamidase, resulting in defective degradation and subsequent sulfate. It characterized progressive nervous system involvement. Cribriform changes the corpus callosum, basal ganglia, white matter, diffuse high-intensity signal cerebral atrophy have been described patients with this disorder. This case report describes child A who exhibited fairly mild clinical findings but an unusual magnetic resonance imaging pattern that included multiple moderate-sized cysts (probably enlarged perivascular spaces) within callosum abnormal appearance clivus cervical vertebrae. calls attention to variety appearances possible A.