Table 3.
A, B, C. Motor functioning, musculoskeletal manifestations, and surgical interventions in Hurler’s disease after HSCT treatment
| Topic | Total number of papers | Total number of patients | Affected patients N (%) | Age at HSCT (months) | Follow-up after HSCT (months) | |
|---|---|---|---|---|---|---|
| A. Motor functioning | ||||||
| Gait / mobility | 9 | 81 | * | |||
| Unaided, independent gait | 6 | 49 | 12 (24.5) | 20.0 | 72.6 | |
| ROM | hip, knee, shoulder, elbow | 7 | 55 | 52 (94.5) | 20.6 | 92.0 |
| Longitudinal growth | 9 | 107 | * | |||
| Growth < −2SD of normal | 5 | 58 | 30 (51.7) | 20.0 | 80.2 | |
| Sitting height/ trunk growth | 2 | 21 | * | |||
| Motor development | 5 | 63 | * | |||
| Hand dexterity | 7 | 26 | 23 (88.5) | 20.8 | 50.1 | |
| Neurological symptoms | 7 | 61 | 12 (19.7) | 20.6 | 48.5 | |
| Muscle strength | 3 | 45 | * | |||
| B. Musculoskeletal manifestations | ||||||
| I. Radiological signs | ||||||
| X-ray of cervical spine | ||||||
| C1-2 instability | 5 | 70 | 14 (20.0) | 19.2 | 84.2 | |
| Odontoid hypoplasia | 4 | 60 | 43 (71.7) | 17.4 | 94.2 | |
| MRI of cervical spine | ||||||
| Soft tissue deposition around odontoid | 5 | 28 | 24 (85.7) | 17.9 | 97.8 | |
| Spinal cord compression | 5 | 59 | 4 (6.8) | 18.8 | 100.0 | |
| Ligamentous hypertrophy | 3 | 19 | 6 (31.6) | 20.1 | 107.7 | |
| X-ray or MRI of thoracolumbar spine | ||||||
| Vertebral abnormalities | 3 | 30 | 28 (93.3) | 18.2 | 75.2 | |
| Kyphosis | 14 | 101 | 82 (81.2) | 16.6 | 80.0 | |
| Scoliosis | 3 | 46 | 15 (32.6) | 14.7 | 86.6 | |
| Spondylolisthesis | 1 | 12 | 10 (83.3) | 16.0 | 54.0 | |
| Disc abnormalities | 2 | 10 | 3 (30.0) | 16.8 | 54.2 | |
| X-knee | ||||||
| Genu valgum | 9 | 103 | 72 (69.9) | 16.4 | 74.2 | |
| Dysplasia of proximal tibial metaphysis | 2 | 34 | 23 (67.6) | 12.7 | 104.9 | |
| X-hip | ||||||
| Hip dysplasia | 8 | 67 | 60 (89.6) | 15.4 | 84.4 | |
| Hip dislocation/ (sub)luxation | 8 | 32 | 13 (40.6) | 14.4 | 54.5 | |
| II. Hand involvement | ||||||
| Carpal tunnel syndrome | 7 | 90 | 57 (63.3) | 18.4 | 90.7 | |
| Trigger fingers | 1 | 7 | 4 (57.1) | 20.0 | 55.2 | |
| C. Surgical interventions | ||||||
| Treatment | ||||||
| Cervical fusion | 5 | 45 | 5 (11.1) | 20.6 | 97.2 | |
| Spinal cord decompression | 2 | 17 | 3 (17.6) | 18.2 | 101.8 | |
| Thoracolumbar spinal fusion | 14 | 170 | 55 (32.4) | 16.5 | 86.2 | |
| Knee surgery | 8 | 140 | 51 (36.4) | 16.0 | 80.0 | |
| Hip containment surgery | 9 | 101 | 46 (45.5) | 16.1 | 84.2 | |
| Carpal tunnel release | 12 | 141 | 79 (56.0) | 19.1 | 93.2 | |
| Trigger finger release | 1 | 7 | 4 (57.1) | 20.0 | 55.2 | |
HSCT = hematopoietic stem cell transplantation, ROM = range of motion, SD = standard deviation
* = limited data available on the number of affected patients; available group data will be discussed in the results section