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Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study

Bipesh Kumar Shah1, Diwakar Koirala1, Bivek Mishra1

  • 1BPKIHS Dharan Nepal.

Clinical Case Reports
|October 6, 2025
PubMed

Insights

This case report details managing Gaucher Disease Type 1 in a child with massive splenomegaly and anemia. Splenectomy was performed due to lack of enzyme replacement therapy, highlighting access challenges.

Area of Science:

  • Pediatric Hematology
  • Rare Genetic Disorders
  • Metabolic Diseases

Background:

  • Gaucher Disease Type 1 is a rare lysosomal storage disorder.
  • Manifestations include splenomegaly, anemia, and skeletal issues.
  • Management is challenging in resource-limited settings.

Purpose of the Study:

  • To describe the management of Gaucher Disease Type 1 in a pediatric patient.
  • To highlight challenges in resource-constrained environments.
  • To emphasize the need for improved therapeutic access.

Main Methods:

  • Case report of an 8-year-old male with Gaucher Disease Type 1.
  • Clinical presentation included massive splenomegaly, anemia, and skeletal involvement.
  • Treatment involved splenectomy due to unavailability of enzyme replacement therapy.

Main Results:

  • Successful splenectomy was performed.
  • The patient's condition was managed without enzyme replacement therapy.
  • The case illustrates significant treatment access barriers.

Conclusions:

  • Splenectomy can be a management option for Gaucher Disease Type 1 in resource-limited settings.
  • Enhanced access to enzyme replacement therapy is crucial.
  • Comprehensive care strategies are needed for pediatric rare diseases.

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