Case Report
Copyright ©The Author(s) 2019.
World J Clin Cases. Jun 26, 2019; 7(12): 1475-1482
Published online Jun 26, 2019. doi: 10.12998/wjcc.v7.i12.1475
Table 1 Genotype/phenotype correlations
PatientAge at diagnosisSymptoms and signsLab findingsOrganomegaly; Bone disorderGeneticsChildren
Patient 1 Gender: M8Stunted growth; distended stomch; bone painThrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓Splenomegaly; Erlenmeyer flask deformity of both femursN370S/55bpNo
Patient 2 Gender: M40Loss of appetite; Abdominal and lumbosacral painThrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓Splenomegaly, hepatomegaly; No bone disorderN370S/D409H2
Patient 3 Gender: M36Nasal bleeding; pain under right costal archThrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓Splenomegaly, hepatomegaly; Infiltration in the trochanter region on both sides and LS spineN370S/D409H2
Patient 4 Gender: M7NoneThrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓Splenomegaly; Both femurs and tibias were affectedH255Q/N370SNo
Patient 5 Gender: F23Massive bleeding after childbirthThrombocytopenia; Gaucher cells in BM; plasma: Chitotriosidase ↑; β- glucosidase ↓Splenomegaly, hepatomegaly; No bone disorderHomozygosity N370S1