| Yamada et al 1998 [20] |
12-year old female Donor source: HLA-identical unrelated female Multiple disease symptoms at transplantation Wheelchair-bound Rectal mucosa swollen with lysosomal storage material |
No GVHD Congestive heart failure at day 6, resolved at day 55 post-transplantation Interstitial pneumonia from cytomegalovirus 37 days after transplantation Uronic acid decreased from 44 mg/g to 14 mg/g Swollen lysosomal storage material in the patient’s rectal mucosa discontinued Recurrent infections ceased Improved motor function, shortness of breath, recurrent infections and snoring IQ was not significantly altered (IQ of 47 reported after BMT) Brain atrophy and ventricular enlargement did not change significantly Moderate aortic valve and mitral valve regurgitation did not change but was stabilized No changes in vertebrae or hip joints Quality of life improved |
| Montano et al. 2016 [180] |
5 Patients Patient 1: BMT at age 2 - failed Second BMT at age 4 - successful Patient 2: Seven years old, severe manifestations Patient 3: Diagonosed at 4 months of age Patient 4: BMT at 3 years of age Patient 5: BMT at 7 months |
Patient 1: moderate clinical and skeletal manifestations, normal intelligence Overall slow progression of disease Patient 2: Died from complication of BMT Patient 3: Died few years after BMT Patient 4: Moderate phenotype at age of 15 Displays clinical and skeletal manifestations Hydrocephalic with language impairment Patient 5: No clinical manifestations at 15 months of age Hepatomegaly disappeared, normal intelligence, and walking Cardiomyopathy with mild atrial enlarement |
| Sisinni et al. 2018 [182] |
2-year old female 1st transplantation: Matched unrelated donor Reduced intensity fludarabine, melphalan, and alemtuzumab 2nd transplantation: matched unrelated cord blood Myeloabalative busulfan, cyclophosphamide, and ATG |
Developed aGvHD 1st transplantation: Graft rejected 1-year after transplantation Second HSCT performed: Full chimerism +6 years after transplant Normal motor function, stabalized skeletal dysplasia No neurological symptoms present |
