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Gaucher disease. Unusual presentation and mini-review
Tamer M Rizk1, Rafiu O Ariganjoye, Gihad I Alsaeed
1Department of Pediatrics and Pediatric Neurology, Al-Takhassusi Hospital, Dr. Sulaiman Al-Habib Medical Group, Riyadh, Kingdom of Saudi Arabia.
Neurosciences (Riyadh, Saudi Arabia)
|July 14, 2015
Summary
This case study highlights an unusual Gaucher disease (GD) presentation in an 8-year-old boy. Gaucher disease, a lysosomal storage disorder, requires multidisciplinary care for effective management.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Gaucher disease (GD) is a progressive lysosomal storage disorder.
- It results from glucocerebrosidase enzyme deficiency, impacting monocyte-macrophage systems.
- GD presents with diverse clinical features, including neurological involvement in some subtypes.
Observation:
- An 8-year-old boy presented with an atypical clinical course of Gaucher disease.
- The patient experienced a progressive disease trajectory.
- The outcome was severe and devastating.
Findings:
- Diagnosis of GD involves enzyme activity assays, gene mutation studies, and bone marrow aspiration.
- Various diagnostic tests are established for identifying Gaucher disease cases.
- This case underscores the variability in GD presentation.
Implications:
- Available treatments include enzyme replacement, substrate reduction therapy, bone marrow transplantation, transfusions, and surgery.
- Effective management of Gaucher disease necessitates a multidisciplinary team approach.
- Regular follow-up across multiple subspecialties is crucial for chronic GD management.
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