A Rare Adult Autopsy Case of Von Gierke's Disease with Significant Atherosclerosis
Kristine Konopka, Laura Kidd, Gerhard Krueger. University of Texas Health Science Center at Houston Medical School, Houston, TX; Methodist Hospital, Houston, TX
Background: Glycogen storage disease type 1a (GSD 1a), or von Gierke's disease, is a rare autosomal recessive disease, caused by a deficiency in glucose-6-phosphatase-α, resulting in tissue accumulation of glycogen. Through dietary modification and pharmacologic intervention, life expectancy has greatly improved for disease suffers. Despite significant hyperlipidemia in GSD 1a patients, there remains no consensus on their risk for developing atherosclerotic disease.
Design: We report a case of a 61-year-old male with known GSD 1a, complicated by cerebral infarcts, cardiomyopathy, hypertension, and end-stage kidney disease status post renal allograft, who presented with altered mental status. Inpatient work-up was most consistent with acute metabolic encephalopathy secondary to liver and kidney failure. Despite aggressive medical management, the patient expired. An unrestricted clinical autopsy was performed, using a modified Virchow approach. Formalin-fixed and alcohol-fixed tissue samples were sent for histologic processing, and additional specimens were submitted in glutaraldehyde for electron microscopy.
Results: Significant gross anatomic findings included advanced liver fibrosis, cardiomegaly, severely atrophic native kidneys, cortical necrosis of the renal allograft, and extreme calcification of cerebral, coronary, and systemic arteries. Review of hematoxylin and eosin sections confirmed the gross anatomic findings. Periodic acid-Schiff stain highlighted massive focal glycogen deposits in the liver and heart. Electron microscopy showed extensive glycogen deposition in hepatocyte and cardiomyocyte nuclei, cytoplasm, and mitochondria with mitochondrial swelling, loss of cristae and dark amorphous inclusions.
Conclusions: Overall, gross, histologic, and electron microscopic findings were consistent with GSD 1a; however, most remarkable was the extent of atherosclerotic disease that likely represents the factor most contributory to this patient's fatal outcome. Although longstanding hypertension contributed to the pathogenesis of calcific vascular disease, these case findings argue that accelerated atherosclerosis does occur in the setting of GSD 1a and that aggressive medical management of hyperlipidemia should be pursued in such patients.
Wednesday, March 6, 2013 9:30 AM
Poster Session V # 12, Wednesday Morning