Clinical Study

Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients

Table 2

Orthopedic findings and treatment.

Pat.First symptomsSitting abilityWalking abilityScoliosis (Cobb degree)Pelvic tiltHip joint involvement
contractures, feet deformities
Orthopedic surgeries Age of surgery (years)

1LWYesYes Incipient, <10°Hip-TEP left59
2LWYesYes Reconstruction of rotator cuff right50
3GWYesYes Th: right-conv. 26° Th3/Th7/Th11
4IMDNoLimited2Th/L: right-conv. C-shaped 80° Th5/Th11/L540° rightHip dysplasia/luxation right
Pes equinus
Intertrochanteric varus osteotomy right17
5 IMD Yes1 NoTh: right-conv. 57° Th1/Th8/Th124;
L: left-conv. 90° L1/L3/L54
35° leftHip dysplasia/luxation left + right
Hip + knee flexor contractures
Pes planovalgus
Spine stabilization Th3-S1
Post-op: Th 38°, L 23°, pelvic tilt 0°
14
Derotating varus osteotomy both sides; hip and knee flexor release left+right13
6 LW Yes No3Th/L: right-conv. C-shaped 90° Th6/L1/L5 40° rightHip dysplasia left + right
Hip + knee flexor contractures
Spine stabilization Th3-S1
Post-op: Th 35°, pelvic tilt 8°
13
Hip and knees flexor release left + right4
7LWNoNo Th/L: left-conv., collapsing spine560° leftTalipes equinovarusSurgery not possible6
8IMDYesYes Pes equinusAchillotenotomy left + right5

Pat.: patient, LW: leg weakness, GW: general weakness, IMD: impaired motor development, left-conv.: left-convex, right-conv.: right-convex, Th: thoracic, and L: lumbar. 1was lost due to scoliosis and pelvic obliquity and regained after spine stabilization surgery. 2Only transfer walking for a few meters inside. 3Ability lost at the age of 13 years. 4Last examination before surgery. 5Cobb degree not measurable and sitting position for X-ray is not achievable. 6Operative stabilization was indicated; patient's general condition is not sufficient for surgery.