title: 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.
authors: Department of Pathology and.
authors: Aanchal
authors: A
authors: Kakkar
authors: Mehar Chand
authors: MC
authors: Sharma
authors: Aruna
authors: A
authors: Nambirajan
authors: Chitra
authors: C
authors: Sarkar
authors: Vaishali
authors: V
authors: Suri
authors: Sheffali
authors: S
authors: Gulati
mesh_terms: D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000209:etiology; D002648:Child; D006011:Glycogen Storage Disease Type IV / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D046529:Microscopy, Electron, Transmission; D018482:Muscle, Skeletal / Q000648:ultrastructure*
keywords: Andersen disease; GBE; branching enzyme deficiency; electron microscopy; glycogen storage disease; ultrastructure