Ann Lab Med.  2016 Mar;36(2):177-179. 10.3343/alm.2016.36.2.177.

Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures

• Rim JH
• Baik M
• Yoon SO
• Heo K
• Song J

• KMID: 2373520
• DOI: http://doi.org/10.3343/alm.2016.36.2.177

Abstract

No abstract available.

MeSH Terms

Adult
Anticonvulsants/therapeutic use
Bone Marrow/*pathology
Epilepsies, Myoclonic/complications/*diagnosis/drug therapy
Female
Gaucher Disease/complications/*diagnosis/drug therapy
Glucosylceramidase/genetics/therapeutic use
Humans
Phenotype
Point Mutation
Recurrence
Anticonvulsants
Glucosylceramidase

Figure

• 

  Fig. 1 Microscopic examination of the patient's (A) peripheral blood (×400, Wright-Giemsa stain) and (B) bone marrow aspiration (×400, Wright-Giemsa stain). (C) Atypical Gaucher cell with vacuolations and typical Gaucher cell with a "wrinkled tissue pattern" on bone marrow aspirate smear (×1,000, Wright-Giemsa stain). (D) Bone marrow biopsy specimen presenting with several Gaucher cells (×400, Hematoxylin & Eosin stain).

Reference

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