Summary of clinical characteristics of patients

Patient/SexDisorderAge at MR ImagingNeurologic details
1/MInfantile GM10 y 7 moPresented at age 5 mo with a failure to thrive; progressively deteriorated, with hypotonia, poor head control and poor visual contact, and died at age 13 mo
2/FMLD17 y 0 moSymptoms started at age 16 y, with walking and learning problems; died 1 mo after bone marrow transplantation at age 18 y 3 mo
3/FGLD0 y 6 mo, 0 y 11 moFeeding difficulties and poor visual response at age 3 mo; developed hypertonia, increased irritability and epilepsy; condition deteriorated rapidly and died at 1 y of age