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Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions.
Semin Liver Dis. 2011 May; 31(2):223-9.SL

Abstract

Liver involvement in genetic and metabolic disorders may result in intrahepatic accumulation of specific precursors or byproducts, which have distinctive features on light microscopy. The "polyglucosan disorders" are diseases in which polyglucosan (abnormal glycogen with decreased branching) is formed and deposited in various tissues because of decreased or absent glycogen branching enzyme activity. These disorders include Lafora disease (myoclonus epilepsy) and type IV glycogen storage disease. Polyglucosan deposits in both conditions result in ground-glass hepatocellular inclusions resembling those seen in chronic hepatitis B virus infection. In the present report, we describe a case of the rare, adulthood form of glycogen branching enzyme deficiency, adult polyglucosan body disease (APBD), in which abnormal serum liver tests prompted a liver biopsy. The pathologic findings of periportal ground-glass hepatocellular inclusions, mild chronic portal inflammation, and periportal fibrosis are not well described in APBD, but resemble the chronic changes that have been reported in Lafora disease. The differential diagnosis of ground-glass hepatocytes and the genetic basis of APBD are discussed.

Authors+Show Affiliations

Department of Pathology, New York University Langone Medical Center, New York, New York 10016, USA. Cristina.Hajdu@nyumc.orgNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21538287

Citation

Hajdu, Cristina H., and Jay H. Lefkowitch. "Adult Polyglucosan Body Disease: a Rare Presentation With Chronic Liver Disease and Ground-glass Hepatocellular Inclusions." Seminars in Liver Disease, vol. 31, no. 2, 2011, pp. 223-9.
Hajdu CH, Lefkowitch JH. Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions. Semin Liver Dis. 2011;31(2):223-9.
Hajdu, C. H., & Lefkowitch, J. H. (2011). Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions. Seminars in Liver Disease, 31(2), 223-9. https://doi.org/10.1055/s-0031-1276649
Hajdu CH, Lefkowitch JH. Adult Polyglucosan Body Disease: a Rare Presentation With Chronic Liver Disease and Ground-glass Hepatocellular Inclusions. Semin Liver Dis. 2011;31(2):223-9. PubMed PMID: 21538287.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions. AU - Hajdu,Cristina H, AU - Lefkowitch,Jay H, Y1 - 2011/05/02/ PY - 2011/5/4/entrez PY - 2011/5/4/pubmed PY - 2011/8/24/medline SP - 223 EP - 9 JF - Seminars in liver disease JO - Semin Liver Dis VL - 31 IS - 2 N2 - Liver involvement in genetic and metabolic disorders may result in intrahepatic accumulation of specific precursors or byproducts, which have distinctive features on light microscopy. The "polyglucosan disorders" are diseases in which polyglucosan (abnormal glycogen with decreased branching) is formed and deposited in various tissues because of decreased or absent glycogen branching enzyme activity. These disorders include Lafora disease (myoclonus epilepsy) and type IV glycogen storage disease. Polyglucosan deposits in both conditions result in ground-glass hepatocellular inclusions resembling those seen in chronic hepatitis B virus infection. In the present report, we describe a case of the rare, adulthood form of glycogen branching enzyme deficiency, adult polyglucosan body disease (APBD), in which abnormal serum liver tests prompted a liver biopsy. The pathologic findings of periportal ground-glass hepatocellular inclusions, mild chronic portal inflammation, and periportal fibrosis are not well described in APBD, but resemble the chronic changes that have been reported in Lafora disease. The differential diagnosis of ground-glass hepatocytes and the genetic basis of APBD are discussed. SN - 1098-8971 UR - https://www.unboundmedicine.com/medline/citation/21538287/Adult_polyglucosan_body_disease:_a_rare_presentation_with_chronic_liver_disease_and_ground_glass_hepatocellular_inclusions_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-0031-1276649 DB - PRIME DP - Unbound Medicine ER -