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.

journal_name

Ultrastruct Pathol

authors

Kakkar A,Sharma MC,Nambirajan A,Sarkar C,Suri V,Gulati S

doi

10.3109/01913123.2015.1014612

subject

Has Abstract

pub_date

2015-01-01 00:00:00

pages

293-7

issue

4

eissn

0191-3123

issn

1521-0758

journal_volume

39

pub_type

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