Glycogen storage disease type II MRI

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

There are no MRI findings associated with glycogen storage disease type 2 (GSD type 2). However, an MRI may be helpful in the diagnosis of neurologic complications of GSD type 2, which include central and cortical atrophy.

MRI

  • There are no MRI findings associated with glycogen storage disease type 2 (GSD type 2). However, an MRI may be helpful in the diagnosis of neurologic complications of GSD type 2, which include:[1]
    • Central and cortical atrophy

References

  1. van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.

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