Gaucher's Disease- A case report

Authors

  • ASM Ruhul Quddush Associate Professor, Department of Pediatrics, Community Based Medical College, Bangladesh
  • - Md Kamruzzaman Assistant Professor, Department of Pediatrics, Community Based Medical College, Bangladesh
  • - Md Badruzzaman Registrar, Department of Pediatrics, Community Based Medical College, Bangladesh
  • Mirja Hamidul Haque Professor & Head, Department of Pathology, Community Based Medical College, Bangladesh
  • Nazma Parvin Ansari Assistant Professor, Department of Pathology, Community Based Medical College, Bangladesh
  • Shamima Sattar Assistant Professor, Department of Pharmacology, Community Based Medical College, Bangladesh
  • Shabiha Parvin Assistant Registrar, Department of Pediatrics, Community Based Medical College, Bangladesh
  • Faria Sultana Assistant Registrar, Department of Pediatrics, Community Based Medical College, Bangladesh

DOI:

https://doi.org/10.3329/cbmj.v3i2.53404

Keywords:

Gaucher's cell, lipid storage disease, ERT

Abstract

A 3 years old immunized girl of consanguineous parents presented abdominal distension with hepatosplenomegaly. She was moderately anemic, moderately wasted and stunted. Neurological examination was normal. Musculoskeletal system examination revealed no abnormality. Diagnosis was supported by typical bone involvement in X-ray film (thin cortex in limb bone) and gaucher cell in the bone marrow and also in the splenic aspiration. There are three subtypes Type1: Non neuropathic form, Type 2: Acute neuropathic form, Type 3: Chronic neuropathic form. However some cases do not fit precisely into one of these categories. All forms of Gaucher disease are autosomal recessively inherited. So, this patient more or less correlates with Gaucher disease type 1. Treatment option for type 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective.

CBMJ 2014 July: Vol. 03 No. 02 P: 45-48

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Published

2014-08-04

How to Cite

Quddush, A. R., Md Kamruzzaman, .-., Md Badruzzaman, .-., Haque, M. H., Ansari, N. P., Sattar, S., Parvin, S., & Sultana, F. (2014). Gaucher’s Disease- A case report. Community Based Medical Journal, 3(2), 45–48. https://doi.org/10.3329/cbmj.v3i2.53404

Issue

Vol. 3 No. 2 (2014)

Section

Case Reports

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