15 January 2026
: Case report 
Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype
Unusual clinical course, Challenging differential diagnosis, Unusual or unexpected effect of treatment, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)
Paskal Cullufi
ABCDEF 1, Virtut Velmishi BCDF 1, Ermira Dervishi BD 1, Sonila Tomori BD 1, Gladiola Hoxha BD 1, Eda Jazexhiu-Postoli BD 2, Entela Basha BD 3, Aferdita Kumaraku Tako BD 1, Mirela Tabaku ADEF 1*
DOI: 10.12659/AJCR.948999
Am J Case Rep 2026; 27:e948999
Figure 2 Computed tomography scan of the head showing pronounced hydrocephalus.