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.

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Keywords mucolipidosis type II, MLII, ML intermediate, I-cell disease, hip, hip dysplasia, hip dislocation, cloaking, femoral bowing, ultrasound
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Journal Journal of Clinical Medicine
Ammer, L.S., Oussoren, E, Muschol, N.M., Pohl, S, Rubio-Gozalbo, M.E, Santer, R, … Breyer, S.R. (2020). Hip Morphology in Mucolipidosis Type II. Journal of Clinical Medicine, 9(3). doi:10.3390/jcm9030728