Table 3.
Somatic manifestations in Hurler syndrome patients who were evaluated more than 5 years after receiving umbilical cord blood transplantation
| Organ system | Manifestation | At baseline (pre-UCBT) n (%) | At 0–2 years FU (post-UCBT) n (%) | At >2 years FU (post-UBCT) n (%) | |
|---|---|---|---|---|---|
| Cardiopulmonary | Valvulopathy: insufficiency | 4/14 (29) | 4/16 (25) | 13/19 (68) | |
| Cardiomyopathy | 2/13 (15) | 4/15 (27) | 3/19 (16) | ||
| Upper respiratory obstruction | 4/13 (31) | 0/15 (0) | 13/19 (68) | ||
| Orthopedic | Thoracolumbar kyphosis: spinal surgery | 0/13 (0) | 0/15 (0) | 6/19 (32) | |
| Hip dysplasia: surgery | 0/13 (0) | 0/15 (0) | 4/19 (21) | ||
| Genu valgum: surgery | 0/13 (0) | 0/15 (0) | 12/19 (63) | ||
| Carpal tunnel syndrome: surgery | 0/13 (0) | 0/15 (0) | 9/19 (47) | ||
| Cord compression: surgery | 0/13 (0) | 0/15 (0) | 0/19 (0) | ||
| Atlantoaxial instability: surgery | 0/13 (0) | 0/15 (0) | 0/19 (0) | ||
| Other surgery* | 0/12 (0) | 0/15 (0) | 4/19 (21) | ||
| Audiologic | Hearing loss: BAER abnormalities | 2/13 (15) | 0/15 (0) | 1/19 (5) | |
| Hearing loss: amplification | 0/13 (0) | 4/15 (27) | 7/19 (37) | ||
| Ophthalmologic | Corneal clouding | 8/14 (57) | 8/16 (50) | 18/19 (95) | |
| Degree | None | 6/14 (43) | 8/16 (50) | 1/19 (5) | |
| Mild | 5/14 (36) | 6/16 (38) | 8/19 (42) | ||
| Moderate | 3/14 (21) | 2/16 (13) | 7/19 (37) | ||
| Severe | 0/14 (0) | 0/16 (0) | 3/19 (16) | ||
| Corneal transplant | 0/13 (0) | 0/15 (0) | 4/19 (21) | ||
| Cerebral MRI | Hydrocephalus: surgery (VP shunt)** | 3/13 (16) | 5/15 (33) | 6/19 (32) | |
| Cerebral atrophy | 8/16 (50) | 5/15 (33) | 6/19 (32) | ||
| Growth | GH deficiency | 0/13 (0) | 0/15 (0) | 7/19 (37) | |
| GH treatment | 0/13 (0) | 0/15 (0) | 11/19 (58) | ||
*Other operations: trigger finger release 2/24 (8%), ankle surgery 2/24 (8%), Achilles tendon lengthening 1/24 (4%)
**New cases of VP shunt insertion