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Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Publication ,  Journal Article
Magoulas, PL; El-Hattab, AW; Roy, A; Bali, DS; Finegold, MJ; Craigen, WJ
Published in: Hum Pathol
June 2012

Glycogen storage disease type IV is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the GBE1 gene that encodes the 1,4-alpha-glucan-branching enzyme 1. Its clinical presentation is variable, with the most common form presenting in early childhood with primary hepatic involvement. Histologic manifestations in glycogen storage disease type IV typically consist of intracytoplasmic non-membrane-bound inclusions containing abnormally branched glycogen (polyglucosan bodies) within hepatocytes and myocytes. We report a female infant with classic hepatic form of glycogen storage disease type IV who demonstrated diffuse reticuloendothelial system involvement with the spleen, bone marrow, and lymph nodes infiltrated by foamy histiocytes with intracytoplasmic polyglucosan deposits. Sequence analysis of the GBE1 gene revealed compound heterozygosity for a previously described frameshift mutation (c.1239delT) and a novel missense mutation (c.1279G>A) that is predicted to alter a conserved glycine residue. GBE enzyme analysis revealed no detectable activity. A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. Individuals with the classic hepatic form of glycogen storage disease type IV tend to be compound heterozygotes for null and missense mutations. Although the extensive reticuloendothelial system involvement that was observed in our patient is not typical of glycogen storage disease type IV, it may be associated with severe enzymatic deficiency and a poor outcome.

Duke Scholars

Published In

Hum Pathol

DOI

EISSN

1532-8392

Publication Date

June 2012

Volume

43

Issue

6

Start / End Page

943 / 951

Location

United States

Related Subject Headings

  • Pathology
  • Mutation
  • Mononuclear Phagocyte System
  • Infant, Newborn
  • Infant
  • Humans
  • Glycogen Storage Disease Type IV
  • Female
  • 3202 Clinical sciences
  • 1103 Clinical Sciences
 

Citation

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MLA
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Magoulas, P. L., El-Hattab, A. W., Roy, A., Bali, D. S., Finegold, M. J., & Craigen, W. J. (2012). Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol, 43(6), 943–951. https://doi.org/10.1016/j.humpath.2011.10.001
Magoulas, Pilar L., Ayman W. El-Hattab, Angshumoy Roy, Deeksha S. Bali, Milton J. Finegold, and William J. Craigen. “Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.Hum Pathol 43, no. 6 (June 2012): 943–51. https://doi.org/10.1016/j.humpath.2011.10.001.
Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol. 2012 Jun;43(6):943–51.
Magoulas, Pilar L., et al. “Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.Hum Pathol, vol. 43, no. 6, June 2012, pp. 943–51. Pubmed, doi:10.1016/j.humpath.2011.10.001.
Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol. 2012 Jun;43(6):943–951.
Journal cover image

Published In

Hum Pathol

DOI

EISSN

1532-8392

Publication Date

June 2012

Volume

43

Issue

6

Start / End Page

943 / 951

Location

United States

Related Subject Headings

  • Pathology
  • Mutation
  • Mononuclear Phagocyte System
  • Infant, Newborn
  • Infant
  • Humans
  • Glycogen Storage Disease Type IV
  • Female
  • 3202 Clinical sciences
  • 1103 Clinical Sciences