10 September 2026
: Case report 
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
Table 1 Clinical classification and key features of Gaucher disease [2,5,12,14].
| Feature | Type 1 (non-neuronopathic) | Type 2 (acute neuronopathic) | Type 3 (chronic neuronopathic) |
|---|---|---|---|
| Onset | Childhood or adulthood | Infancy | Childhood |
| Central nervous system involvement | Absent | Severe, rapidly progressive | Progressive |
| Typical neurologic features | – | Seizures, encephalopathy | Oculomotor palsy, ataxia, seizures |
| Severity of visceral involvement | Severe | Mild | Moderate |
| Skeletal involvement | Common | Rare | Common |
| Prognosis | Variable, chronic | Poor, early death | Variable |
| Additional features | Parkinsonism/ extrapyramidal features reported in some patients | – | – |
| Note: Severity of visceral involvement is expressed qualitatively (mild, moderate, or severe) to reflect relative clinical burden. | |||