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Acute myelogenous leukemia and glycogen storage disease 1b

Maury Pinsk, Jeffrey Burzynski, Margaret Yhap, Robert B Fraser, Brian Cummings, Micheline Ste-Marie
Journal of Pediatric Hematology/oncology 2002, 24 (9): 756-8
Glycogen storage disease 1b (GSD 1b) is caused by a deficiency of glucose-6-phosphate translocase and the intracellular accumulation of glycogen. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, lactic acidosis, as well as neutropenia causing increased susceptibility to pyogenic infections. We present a case of a young woman with GSD 1b who developed acute myelogenous leukemia while on long-term granulocyte colony-stimulating factor therapy. The presence of two rare diseases in a single patient raises suspicion that GSD 1b and acute myelogenous leukemia are linked. Surveillance for acute myelogenous leukemia should become part of the long-term follow-up for GSD 1b.

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