| Autor: |
Tie TH; Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan.; Medical Device R & D Core Laboratory, National Cheng Kung University Hospital, Tainan 704, Taiwan., Lin WH; School of Medicine, National Cheng Kung University, Tainan 701, Taiwan., Huang MT; Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan., Wu PT; Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan.; Medical Device R & D Core Laboratory, National Cheng Kung University Hospital, Tainan 704, Taiwan.; Department of Orthopedics, College of Medicine, National Cheng Kung University, Tainan 701, Taiwan.; Department of Biomedical Engineering, National Cheng Kung University, Tainan 701, Taiwan.; Department of Biochemistry and Molecular Biology, College of Medicine, National Cheng Kung University, Tainan 701, Taiwan., Tsai MC; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan., Chou YY; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan., Hong CK; Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan., Lin CJ; Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan.; Department of Orthopedic Surgery, Show Chwan Memorial Hospital, Changhua 500, Taiwan., Shih CA; Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan.; Medical Device R & D Core Laboratory, National Cheng Kung University Hospital, Tainan 704, Taiwan.; Department of Orthopedics, College of Medicine, National Cheng Kung University, Tainan 701, Taiwan. |
| Abstrakt: |
This case report sheds light on the management of skeletal deformity in a young child with X-linked hypophosphatemia (XLH), emphasizing the significance of a timely orthotic intervention alongside pharmacological treatment, which is a strategy not frequently highlighted in the XLH literature. The patient, a 2-year-and-7-month-old female, presented with classic XLH symptoms, including short stature, pronounced genu varum, and hypophosphatemia, with deformities observed in both the coronal and sagittal planes of the femur and tibia. Despite initial reliance on pharmacotherapy, which proved insufficient for skeletal realignment, the integration of orthotic treatment at age 3 marked a pivotal turn in the management strategy. By the age of 5 years and 9 months, this combined approach yielded significant improvements: the deformities in the femur and tibia were notably corrected, tibial torsion was addressed, and enhanced limb alignment was achieved, as corroborated by radiographic evidence. This case underscores the effectiveness of orthotic intervention as a critical and underemphasized adjunct to pharmacological therapy in managing XLH in early childhood. It advocates for the early inclusion of orthotic measures to optimize treatment outcomes and expand the range of management strategies for limb deformities. |
