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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Introduction Case Report Discussion Conclusions References

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Figure 2 Growth trajectory before and after diagnosis of Gaucher disease.Patient’s height measurements plotted on Polish reference growth charts: Institute of Mother and Child charts for boys aged 0–5 years and Polish OLA/OLAF growth charts for older age groups.

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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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