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

Affiliations
  • 1Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. labdx@yuhs.ac
  • 2Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • 3Department of Pathology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

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

1. Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. JAMA. 1996; 275:548–553. PMID: 8606477.
2. Thomas AS, Mehta A, Hughes DA. Gaucher disease: haematological presentations and complications. Br J Haematol. 2014; 165:427–440. PMID: 24588457.
Article
3. Mistry PK, Cappellini MD, Lukina E, Ozsan H, Mach Pascual S, Rosenbaum H, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011; 86:110–115. PMID: 21080341.
Article
4. Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007; 82:697–701. PMID: 17492645.
Article
5. Di Rocco M, Andria G, Deodato F, Giona F, Micalizzi C, Pession A. Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm. Pediatr Blood Cancer. 2014; 61:1905–1909. PMID: 25131373.
Article
6. Thomas AS, Mehta AB, Hughes DA. Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists. Blood Cells Mol Dis. 2013; 50:212–217. PMID: 23219328.
Article
7. Markuszewska-Kuczynska A, Klimkowska M, Regenthal S, Bulanda A, Kämpe Björkvall C, Machaczka M. Atypical cytomorphology of Gaucher cells is frequently seen in bone marrow smears from untreated patients with Gaucher disease type 1. Folia Histochem Cytobiol. 2015; 53:62–69. PMID: 25736845.
8. Machaczka M, Markuszewska-Kuczynska A, Regenthal S, Jurczyszyn A, Galazka K, Wahlin BE, et al. Clinical utility of different bone marrow examination methods in the diagnosis of adults with sporadic Gaucher disease type 1. Pol Arch Med Wewn. 2014; 124:587–592. PMID: 25188399.
Article
Full Text Links
  • ALM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr