Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report

Table 1 Genotype/phenotype correlations

Patient	Age at diagnosis	Symptoms and signs	Lab findings	Organomegaly; Bone disorder	Genetics	Children
Patient 1 Gender: M	8	Stunted growth; distended stomch; bone pain	Thrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓	Splenomegaly; Erlenmeyer flask deformity of both femurs	N370S/55bp	No
Patient 2 Gender: M	40	Loss of appetite; Abdominal and lumbosacral pain	Thrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓	Splenomegaly, hepatomegaly; No bone disorder	N370S/D409H	2
Patient 3 Gender: M	36	Nasal bleeding; pain under right costal arch	Thrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓	Splenomegaly, hepatomegaly; Infiltration in the trochanter region on both sides and LS spine	N370S/D409H	2
Patient 4 Gender: M	7	None	Thrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓	Splenomegaly; Both femurs and tibias were affected	H255Q/N370S	No
Patient 5 Gender: F	23	Massive bleeding after childbirth	Thrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓	Splenomegaly, hepatomegaly; No bone disorder	Homozygosity N370S	1