Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up.
Katarzyna Muras-Szwedziak, Jacek Kasznicki, Olga Wegner et al.
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Case in brief
A 15-year-old male with a history of mild splenomegaly and cytopenias since infancy was diagnosed with Type 1 Gaucher Disease after developing severe skeletal pain and fever. Initial imaging and biopsy revealed bone marrow abnormalities but did not confirm the diagnosis. Enzymatic testing ultimately confirmed Gaucher Disease, leading to successful treatment with imiglucerase, which improved his clinical condition and stabilized laboratory parameters.
Diagnostic / clinical pearl
Clinicians should consider Gaucher Disease in patients with unexplained splenomegaly and persistent cytopenias, even when symptoms are mild and nonspecific.
Why it matters
This case underscores the need for early recognition and specific diagnostic testing to prevent complications and ensure timely treatment initiation.