ilated Perivascular paces: An nformative adiologic Finding in anfilippo Syndrome

نویسنده

  • James Barkovich
چکیده

ucopolysaccharidosis type IIIA, or Sanfilippo synrome type A, is a lysosomal storage disorder caused y deficiency of heparan N-sulfamidase, resulting in efective degradation and subsequent storage of hepaan sulfate. It is characterized by progressive nervous ystem involvement. Cribriform changes in the corpus allosum, basal ganglia, and white matter, diffuse igh-intensity signal in the white matter, and cerebral trophy have been described in patients with this isorder. This case report describes a child with Sanilippo syndrome type A who exhibited fairly mild linical findings but an unusual magnetic resonance maging pattern that included multiple moderate-sized ysts (probably enlarged perivascular spaces) within he corpus callosum and an abnormal appearance of he clivus and cervical vertebrae. This case calls attenion to the variety of appearances possible with magetic resonance imaging in Sanfilippo syndrome type A. 2008 by Elsevier Inc. All rights reserved.

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تاریخ انتشار 2008