Table 4 Long-term “non-neurological” outcome after HSCT in patients with Mucopolysaccharidosis type I-H.

From: Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

Orthopedic outcome (n, %)

 

Cardiac outcome (n, %)

 

 Surgery for thoraco-lumbar kyphosis

24/47 (51%)

 Valvular disease (regurgitation/stenosis)c

34/47 (72%)

 Surgery for spinal cord compression

5/47 (11%)

 Hypertrophic cardiomyopathy

2/47 (4%)

 Surgery for cervical cord C1-C2 compression

6/47 (13%)

 High blood pressure

4/47 (9%)

 Lower limb surgery

16/47 (34%)

Ophthalmic outcome (n, %)

 

 Surgery for carpal tunnel syndrome

34/47 (72%)

 Corneal clouding

45/47 (96%)

 Resurgence of carpal tunnel syndrome after surgery

3/34 (9%)

 Retinal dystrophy (cone-rod dystrophy)

5/44 (11%)

Motor impairmenta (n, %), n = 46

 

 Corneal graft

7/47 (15%)

 No functional impairment

15/46 (33%)

 Visual acuity (VA) impairment (before corneal graft)d

 

 Fatigability with low walking perimeter

14/46 (30%)

   VA ≥ 8/10

15/36 (42%)

 Walking with support (cane or intermittent wheelchair)

10/46 (22%)

   5/10 < VA < 8/10

4/36 (11%)

 Complete loss of walking or permanent wheelchair use

7/46 (15%)

   VA ≤ 5/10

17/36 (47%)

Respiratory-ENT outcome (n, %)

 

Others

 

 Obstructive sleep apnea (use of non-invasive ventilation)

9/45 (20%)

 Height at last follow-up in SD (median, IQR), n = 47

−2.6 (−4.4 to −1.3)

 Reduction of lung volume in PFT (≤60% of normal)

14/30 (47%)

 Final height in cm (median, IQR)e, n = 16

140 (134–146)

 Expected difficulties for tracheal intubationb

16/44 (36%)

 Recurrence of hernia post-HSCT (n, %)

15/45 (33%)

 Hearing loss

35/47 (74%)

 Surgery for temporo-mandibular joint ankylosis (n, %)

3/24 (13%)

  1. Long-term follow-up was analyzed in patients who survived beyond the first year after transplantation (n = 47).
  2. HSCT Haematopoietic stem cell transplantation, IQR Interquartile range, PFT Pulmonary function tests, SD Standard deviation, VA Visual acuity
  3. aMotor impairment was graded in 4 levels using a semi-quantitative scale: 1. No motor impairment; 2. Fatigability with a short walking distance; 3. Walking with support (walking cane or intermittent wheelchair use); 4. Complete loss of walking ability or permanent wheelchair use.
  4. bAnticipated and/or occurring difficult airway management during anesthesia, defined as requirement for an ENT specialist or optic-fiber intubation.
  5. cMitral (n = 33/34, 97%) and/or aortic (n = 13/34, 38%), of grade ≤ II in all patients.
  6. dVisual acuity of the best eye was used as a readout of the visual impairment.
  7. eFor patients ≥15 years old.
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