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Related Experiment Videos

Gaucher Disease Involving Virchow's Lymph Node: a Case Report.

Dmitry A Zinovkin1, Md Zahidul Islam Pranjol2, Dmitry Kravchenko3

  • 1Department of Pathology, Gomel State Medical University, Gomel, Belarus.

Folia Medica
|June 13, 2019
PubMed
Summary

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This study reports the first case of Gaucher disease in an adult female, highlighting potential asymptomatic characteristics and the diagnostic significance of Gaucher cells in enlarged lymph nodes.

Area of Science:

  • Biochemistry
  • Genetics
  • Pathology

Background:

  • Gaucher disease is a rare metabolic disorder caused by a deficiency in the lysosomal enzyme beta-glucocerebrosidase.
  • Typically presents in infancy, adult-onset Gaucher disease is exceptionally rare.
  • This case highlights atypical presentations and diagnostic considerations in adult Gaucher disease.

Observation:

  • A 21-year-old Caucasian female presented with Virchow's lymphatic node enlargement and mild splenomegaly.
  • Familial history of Gaucher disease was noted.
  • Macrophage infiltration observed in lymph nodes, an atypical finding.

Findings:

  • Diagnosis confirmed via DNA analysis and whole blood count.
  • This case represents the first reported adult female manifestation of Gaucher disease.
Keywords:
CD68Gaucher cellsGaucher diseaseN370SVirchow’s lymph node

Related Experiment Videos

  • The presence of Gaucher cells in enlarged lymph nodes was significant.

    • Implications:

    • Suggests Gaucher disease may have asymptomatic or atypical presentations in adults.
    • Highlights the diagnostic value of lymph node examination in suspected Gaucher disease.
    • Underscores the importance of considering genetic metabolic disorders in adult patients with unexplained lymphadenopathy.