{"title":"Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study","authors":"Bipesh Kumar Shah, Diwakar Koirala, Bivek Mishra, Ramesh Sapkota, Manjil Basnet","doi":"10.1002/ccr3.71100","DOIUrl":null,"url":null,"abstract":"<p>This case report depicts the management of an 8-year-old male with Gaucher Disease Type 1, manifesting as massive splenomegaly, anemia, and skeletal involvement in a resource-constrained environment. Treated with splenectomy due to the absence of enzyme replacement therapy, it underscores the necessity for enhanced therapeutic access and comprehensive care.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.71100","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ccr3.71100","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
This case report depicts the management of an 8-year-old male with Gaucher Disease Type 1, manifesting as massive splenomegaly, anemia, and skeletal involvement in a resource-constrained environment. Treated with splenectomy due to the absence of enzyme replacement therapy, it underscores the necessity for enhanced therapeutic access and comprehensive care.
期刊介绍:
Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).