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Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.

Abstract
Glycogen branching enzyme deficiency/Andersen disease can manifest with a spectrum of clinical phenotypes, making the diagnosis difficult. An 11-year-old Pakistani boy presented with a history of progressive weakness and delayed milestones. Echocardiography showed features of dilated cardiomyopathy. He was suspected to have congenital myopathy and was evaluated further. Muscle biopsy showed subsarcolemmal accumulation of basophilic material, which stained positively with Periodic acid-Schiff reagent (diastase-resistant). Ultrastructural examination revealed accumulation of structurally abnormal forms of filamentous glycogen, confirming the diagnosis as Andersen disease. As histopathological and immunohistochemical evaluation of muscle biopsies is not always diagnostic, ultrastructural examination may serve as a valuable adjunct in difficult cases.
AuthorsAanchal Kakkar, Mehar Chand Sharma, Aruna Nambirajan, Chitra Sarkar, Vaishali Suri, Sheffali Gulati
JournalUltrastructural pathology (Ultrastruct Pathol) Vol. 39 Issue 4 Pg. 293-7 ( 2015) ISSN: 1521-0758 [Electronic] England
PMID25867930 (Publication Type: Case Reports, Journal Article)
Topics
  • Biopsy
  • Cardiomyopathy, Dilated (etiology)
  • Child
  • Glycogen Storage Disease Type IV (complications, diagnosis)
  • Humans
  • Immunohistochemistry
  • Male
  • Microscopy, Electron, Transmission
  • Muscle, Skeletal (ultrastructure)

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