ArticleOxford medical case reports2025
Avascular necrosis as an uncommon manifestation in glycogen storage disease type III: diagnostic and therapeutic challenges.
Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Glycogen storage disease type III (GSD III), or Cori disease, is a rare autosomal recessive disorder caused by a debranching enzyme deficiency, leading to abnormal glycogen accumulation. Clinical features include hepatomegaly, hypoglycemia, myopathy, and cardiomyopathy. Avascular necrosis (AVN), the death of bone tissue due to poor blood supply, is an uncommon but severe complication of GSD III. This report discusses a 19-year-old female with a known diagnosis of GSD III who developed AVN, presenting with chronic right hip pain, muscle weakness, and hypoglycemic seizures. Diagnostic challenges were resolved using imaging studies. Management included dietary adjustments to stabilize blood glucose, symptomatic treatment, lipid-lowering agents, and osteoporosis therapy to address skeletal complications. This case highlights the importance of multidisciplinary care, regular monitoring, and individualized management to address rare complications and improve outcomes in GSD III.
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