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; Maciej Wójcik; Olga Wojtyczka

doi:10.12659/AJCR.952793

10 September 2026 : Case report Poland

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

Challenging differential diagnosis, Diagnostic / therapeutic accidents, Rare disease

Katarzyna Muras-Szwedziak

^{ABCDEF 1}, Jacek Kasznicki

^{ABCDEF 2}, Olga Wegner

^{ABCDEF 3}, Maciej Wójcik

^{ABCDEF 4}, Olga Wojtyczka

^{ABCDEF 4*}

DOI: 10.12659/AJCR.952793

Am J Case Rep 2026; 27:e952793

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Figure 5 Longitudinal changes in platelet count during follow-up.Longitudinal changes in the patient’s platelet count over time. Reference ranges are indicated by shaded areas and were derived from the laboratory reports available at each time point. Data labels represent the patient’s individual values at each time point.

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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

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