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. 2021 Mar 19;16(1):201.
doi: 10.1186/s13018-021-02340-6.

Hip pathologies in mucopolysaccharidosis type III

Sandra Rafaela Breyer  1   2   3 , Eik Vettorazzi  4 , Leonie Schmitz  4 , Amit Gulati  4 , Katharina Maria von Cossel  5   6 , Alexander Spiro  7   8   5 , Martin Rupprecht  7   8   5 , Ralf Stuecker  7   8   5 , Nicole Maria Muschol  5   6
Affiliations

Hip pathologies in mucopolysaccharidosis type III

Sandra Rafaela Breyer et al. J Orthop Surg Res. .

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.

Keywords: Dysostosis multiplex; Femoral head; Hip dysplasia; MPS; Mucopolysaccharidosis type III; Osteonecrosis; Pain; Sanfilippo syndrome; Skeletal disease; Skeletal dysplasia.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Radiograph of a 15-year-old severely affected female patient demonstrating measurement of the Reimers percentage (MP, right hip) and Wiberg's center-edge angle (CE, left hip).
Fig. 2
Fig. 2
Presentation of osteonecrosis of the femoral head in severely affected MPS III patients. a An 8-year-old male MPS IIIA patient with severe dysplasia of both hips and osteonecrosis of both femoral heads. b An 8-year-old female MPS IIIA patient with physiological acetabular coverage, but osteonecrosis of the femoral head on both sides. c A 12-year-old male MPS IIIA patient with coxa vara and severely dysplastic acetabular coverage. d A 10-year-old male MPS IIIA patient with osteonecrosis of both femoral heads and dislocation of the right hip joint
Fig. 3
Fig. 3
A 20-year-old MPS IIIA patient with an intermediate phenotype and physiological coverage of the femoral head. The neck of the femur is short and in a varus position. There are no radiographic signs of osteonecrosis of the femoral head
Fig. 4
Fig. 4
A male MPS IIIA patient with a severe phenotype. a At 3 years of age, there were no hip pathologies. b At 10 years of age, Perthes-like necrosis of the right hip was found; note the metaphyseal involvement and the condensation of the epiphysis. c Seven months later. d Eleven months after diagnosis
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References

    1. Cleary MA, Wraith JE. Management of mucopolysaccharidosis type III. Arch Dis Child. 1993;69(3):403–406. doi: 10.1136/adc.69.3.403. - DOI - PMC - PubMed
    1. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschütter A, Kampmann C, Beck M. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28(6):1011–1017. doi: 10.1007/s10545-005-0112-z. - DOI - PubMed
    1. Meyer A, Kossow K, Gal A, Muhlhausen C, Ullrich K, Braulke T, Muschol N. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A) Pediatrics. 2007;120(5):e1255–e1261. doi: 10.1542/peds.2007-0282. - DOI - PubMed
    1. de Ruijter J, Maas M, Janssen A, Wijburg FA. High prevalence of femoral head necrosis in mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study. Mol Genet Metab. 2013;109(1):49–53. doi: 10.1016/j.ymgme.2013.03.004. - DOI - PubMed
    1. White KK, Karol LA, White DR, Hale S. Musculoskeletal manifestations of Sanfilippo syndrome (mucopolysaccharidosis type III) J Pediatr Orthop. 2011;31(5):594–598. doi: 10.1097/BPO.0b013e31821f5ee9. - DOI - PubMed

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