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 1 Clinical timeline from first manifestations to diagnosis, treatment initiation, and transition to adult care.Timeline of the patient’s clinical course, diagnostic evaluation, and treatment, highlighting key diagnostic milestones and potential earlier diagnostic clues. Abbreviations: ERT, enzyme replacement therapy; MCH, mean corpuscular hemoglobin; MCV, mean corpuscular volume; MRI, magnetic resonance imaging.

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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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