Sandra Rafaela Breyer1,2,3, Eik Vettorazzi4, Leonie Schmitz4, Amit Gulati4, Katharina Maria von Cossel5,6, Alexander Spiro7,8,5, Martin Rupprecht7,8,5, Ralf Stuecker7,8,5, Nicole Maria Muschol5,6. 1. Department of Pediatric Orthopedics, Children's Hospital Altona, Bleickenallee 38, 22763, Hamburg, Germany. sandra.r.breyer@gmail.com. 2. Department of Orthopedics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. sandra.r.breyer@gmail.com. 3. International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. sandra.r.breyer@gmail.com. 4. Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. 5. International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. 6. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. 7. Department of Pediatric Orthopedics, Children's Hospital Altona, Bleickenallee 38, 22763, Hamburg, Germany. 8. Department of Orthopedics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
Abstract
BACKGROUND: Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III patients. The purpose of this study was to describe hip pathologies and influencing parameters in MPS III patients. METHODS: A retrospective chart review was performed for 101 MPS III patients. Thirty-two patients met the inclusion criteria of enzymatically or genetically confirmed diagnosis and anteroposterior radiograph of the hips. Modified Ficat classification, Wiberg's center-edge angle, and Reimer's migration percentage were measured. RESULTS: The mean age at data assessment was 11.0 years (SD 5.7). Osteonecrosis of the femoral head was observed in 17/32 patients. No statistically significant association was found between these changes and age, sex, or MPS III subtype. Patients with a severe phenotype showed significantly higher rates of osteonecrosis (14/17) than patients with an intermediate phenotype. Hip dysplasia was present in 9/32 patients and was significantly associated with osteonecrosis of the femoral head (p = 0.04). CONCLUSIONS: The present study demonstrates a high rate of hip pathologies in MPS III patients. Hip dysplasia and severe phenotype were significantly correlated with osteonecrosis of the femoral head. Therefore, radiographs of the hips are highly recommended in baseline and follow-up assessments of MPS III patients. TRIAL REGISTRATION: Retrospectively registered.
BACKGROUND:Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS IIIpatients. The purpose of this study was to describe hip pathologies and influencing parameters in MPS IIIpatients. METHODS: A retrospective chart review was performed for 101 MPS IIIpatients. Thirty-two patients met the inclusion criteria of enzymatically or genetically confirmed diagnosis and anteroposterior radiograph of the hips. Modified Ficat classification, Wiberg's center-edge angle, and Reimer's migration percentage were measured. RESULTS: The mean age at data assessment was 11.0 years (SD 5.7). Osteonecrosis of the femoral head was observed in 17/32 patients. No statistically significant association was found between these changes and age, sex, or MPS III subtype. Patients with a severe phenotype showed significantly higher rates of osteonecrosis (14/17) than patients with an intermediate phenotype. Hip dysplasia was present in 9/32 patients and was significantly associated with osteonecrosis of the femoral head (p = 0.04). CONCLUSIONS: The present study demonstrates a high rate of hip pathologies in MPS IIIpatients. Hip dysplasia and severe phenotype were significantly correlated with osteonecrosis of the femoral head. Therefore, radiographs of the hips are highly recommended in baseline and follow-up assessments of MPS IIIpatients. TRIAL REGISTRATION: Retrospectively registered.
Entities:
Keywords:
Dysostosis multiplex; Femoral head; Hip dysplasia; MPS; Mucopolysaccharidosis type III; Osteonecrosis; Pain; Sanfilippo syndrome; Skeletal disease; Skeletal dysplasia
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