Year: 2024
Type: article
Study design: Case Report
Abstract: Introduction: Gaucher’s disease is a rare, autosomal recessive genetic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. The prevalence of Gaucher’s disease is approximately 1/57,000 to 1/75,000 births worldwide. This report aimed to report a 1-year-4-month-old boy patient with atypical Gaucher’s disease, with a slight increase in ferritin levels and the presence of Gaucher-like cells. Case report: A 1-year 4-month-old boy patient came to the hospital with complaints of an enlarged abdomen and pale. The patient has been diagnosed with anemia since May 2022 and has low platelets. The manifestations of Gaucher’s disease in this patient were somewhat atypical. While he exhibited classic symptoms like hepatosplenomegaly, anemia, and low platelet count, his ferritin levels were only mildly elevated (581 ng/mL), which is lower than what is commonly found. Bone marrow biopsy revealed the presence of Gaucher-like cells (pseudogaucher cells), but no typical Gaucher cells were identified. Despite these atypical findings, a beta-glucosidase enzyme assay confirmed the diagnosis of Gaucher’s disease, where the enzyme activity was significantly reduced. Conclusion: This case highlights an atypical presentation of Gaucher’s disease in a boy, characterized by mild hyperferritinemia and Gaucher-like cells rather than the typical Gaucher cells. Early recognition and diagnosis remain crucial for managing the disease and preventing long-term complications.
Source: Intisari Sains Medis
Institution: Udayana University
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414836701
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