Table 1.

Detailed clinical and genotype finding in 19 children with Gaucher disease.

Genotype	Gaucher typical cell (+)	Consanguinity	Familial history	Symptoms and sings (main presentations)	Age at study (Y m/12)	Age at diagnosis (Y m/12)	Sex	Patient’s number
L444P/L444P	BM, L, S	+b	+a1	Severe viscerald	4	10/12	M	1
L444P/L444P	BM, L	+c	−	Severe visceral	1 6/12	1 6/12	F	2
L444P/L444P	BM	+c	−	Severe visceral	2 6/12	2 6/12	F	3
L444P/L444P	BM	−	+	Severe visceral	1 6/12	1 6/12	F	4
L444P/L444P	BM	+b	−	Severe visceral	2	2	F	5
L444P/L444P	BM	+c	+a2	Severe visceral	1 2/12	1 2/12	M	6
N370S/Unknown mutation	BM, L	−	+a3	Early severe visceral	2 6/12	2 6/12	F	7
L444P/L444P	BM, S	+b	−	Severe viscerald Bone pain	3	1 4/12	F	8
L444P/L444P	BM, L, S	+b	−	Severe viscerald	1 6/12	1 6/12	F	9
L444P/L444P	BM, L	+b	−	Severe visceral	2	2	F	10
Unknown mutations	BM	+b	−	Severe visceral	1	1	F	11
Unknown mutations	BM	−	+a3	Psychomotor regression Mild visceral	2	2	F	12
Unknown mutations	BM	+b	−	Severe visceral	7/12	7/12	M	13
N370S/N370S	BM	+b	−	Severe viscerald Bone pain	9	5	F	14
Unknown mutations	BM	+b	−	Severe visceral Interstitial pneumonia	6/12	6/12	F	15
L444P/L444P	BM	+b	−	Severe visceral	6/12	6/12	M	16
L444P/L444P	BM, L	+b	−	Severe visceral	1 2/12	1 2/12	M	17
L444P/L444P	BM	+b	−	Early visceral	8/12	8/12	M	18
Unknown mutations	BM	+b	−	Early psychomotor regression Spastic palsy Death	2	2	M	19

M, male; F, female; BM, bone marrow; L, liver, S, spleen.

^a1Three cousins with Gaucher disease;

^a2One cousin with Gaucher disease diagnosed at 6 months of age;

^a3Unexplained early deaths in the fraternity;

^bConsanguinity degree III;

^cConsanguinity degree IV or more;

^dSplenectomy.