Table 1.

Clinical Findings

	Patient 1	Patient 2	Patient 3	Patient 4
Age at diagnosis (months)	3	18	7	Birth
Death	No	No	No	No
Family history	Unremarkable	Unremarkable	Unremarkable	One brother affected
Symptoms	Macrocephaly, hydrocephaly, growth retardation, pale optic nerve papillae, fever, rhinitis, mild hypotony	Macrocephaly, hydrocephaly, growth retardation, pale optic nerve papillae, hepato-splenomegaly, dysmorphism, pale skin, muscle ipotony, and ipotrophy	Macrocephaly, dwarfism, severely reduced vision, hepato-splenomegaly, nistagmo	Macrocephaly, reduced vision, ipotony, mild hepato-splenomegaly, mild ipoacusy
Surgery	Anterior craniotomy for decompression	No	No	Optic channel decompression
Pre-BMT therapy	Vitamin D3 135 ng/kg/day	No	Prednisone 1mg/kg/day	No
Age at BMT (months)	6	21	9	2
Donor (bone marrow)	Sister	Unrelated	Unrelated	Brother
GVHD	Yes	Yes	No	No
Post-BMT follow-up	Marked improvement of osteosclerosis	Growth retardation	Severely compromised vision (both eyes)	Vision left eye <1/50