Review Article Open Access

Exploring Long-Term Treatment Strategies in a Seven-Year-Old with Type 1 Gaucher Disease: A Case Report and Literature Review

Abstract

Background: Gaucher disease is a rare lysosomal disease that is caused by a mutation in the GBA gene, this leads to a deficiency in the enzyme glucocerebrosidase responsible for the breakdown of the lipid glucocerebroside, leading to its accumulation in body organs and cells. Case presentation: Managing GD is a challenging procedure, due to its rare occurrence and high treatment cost. In this case report, we present a successfully managed case of a young boy, who has several complications including hepatosplenomegaly, bone deformities and other haematological abnormalities. His strong family support has helped him overcome these difficulties, with the help of the healthcare professionals who were always available to help. Conclusions: This case highlights the need of a multidisciplinary team to manage rare diseases like GD and the need of continuous monitoring and strong social and psychological support.

Khalid A Al Dojan, Marya Radhi*, Rahmeh Al-Asmar, Samia A Sulaiman, Ruba R Akayleh, Raja' Al Zureikat