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Open AccessArticle

Hip Morphology in Mucolipidosis Type II

1
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
2
International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
3
Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, The Netherlands
4
Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
5
Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, 6211 LK Maastricht, The Netherlands
6
Department of Pediatric Orthopedics, Children’s Hospital Altona, 22763 Hamburg, Germany
7
Department of Orthopedics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
8
Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
J. Clin. Med. 2020, 9(3), 728; https://doi.org/10.3390/jcm9030728
Received: 18 January 2020 / Revised: 2 March 2020 / Accepted: 6 March 2020 / Published: 8 March 2020
Mucolipidosis type II (MLII) is a rare lysosomal storage disorder caused by defective trafficking of lysosomal enzymes. Severe skeletal manifestations are a hallmark of the disease including hip dysplasia. This study aims to describe hip morphology and the natural course of hip pathologies in MLII by systematic evaluation of plain radiographs, ultrasounds and magnetic resonance imaging (MRI). An international two-centered study was performed by retrospective chart review. All MLII patients with at least one pelvic radiograph were included. A total of 16 patients were followed over a mean of 3.5 years (range 0.2–10.7 years). Typical age-dependent radiographic signs identified were femoral cloaking (7/16), rickets/hyperparathyroidism-like changes (6/16) and constrictions of the supra-acetabular part of the os ilium (16/16) and the femoral neck (7/16). The course of acetabular and migration indexes (AI, MI) significantly increased in female patients. However, in the overall group, there was no relevant progression of acetabular dysplasia with a mean AI of 23.0 (range 5°–41°) and 23.7° (range 5°–40°) at the first and last assessments, respectively. Better knowledge on hip morphology in MLII could lead to earlier diagnosis, improved clinical management and enables assessment of effects of upcoming therapies on the skeletal system. View Full-Text
Keywords: mucolipidosis type II; MLII; ML intermediate; I-cell disease; hip; hip dysplasia; hip dislocation; cloaking; femoral bowing; ultrasound mucolipidosis type II; MLII; ML intermediate; I-cell disease; hip; hip dysplasia; hip dislocation; cloaking; femoral bowing; ultrasound
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Ammer, L.S.; Oussoren, E.; Muschol, N.M.; Pohl, S.; Rubio-Gozalbo, M.E.; Santer, R.; Stuecker, R.; Vettorazzi, E.; Breyer, S.R. Hip Morphology in Mucolipidosis Type II. J. Clin. Med. 2020, 9, 728.

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