Gaucher’s disease is a common storage disorder but rare entity: Two case report

---

Case Series

Author Details : Kartavya Kumar Verma*, Nighat Hussain Hussain

Volume : 8, Issue : 2, Year : 2023

Article Page : 123-126

https://doi.org/10.18231/j.jdpo.2023.029

Suggest article by email

Get Permission

---

Abstract

Gaucher's disease is a rare, inherited autosomal recessive metabolic disorder due to deficiency of enzyme Glucocerebrosidase resulting in deposition of glucosylceramide. Deposition of glucosylceramide in different organs causes dysfunction and is responsible for specific systemic symptoms and signs. In the present cases, the first case was a 24-year-old female who presented with severe weakness with abdominal fullness due to massive splenomegaly. The unicity of the case was anti-nuclear antibody positivity. Although clinical signs and symptoms were classical in this case. The second case was a 20-year-old male who was already diagnosed case of Gaucher's disease but the only complaint was abdominal fullness due to massive splenomegaly. Special stains were play a tremendous role to highlighting Gaucher's cells.
 

Keywords: Gaucher's disease, Antinuclear antibody, Special stains

How to cite : Verma K K, Hussain N H, Gaucher’s disease is a common storage disorder but rare entity: Two case report. IP J Diagn Pathol Oncol 2023;8(2):123-126

This is an Open Access (OA) journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.