Hip Morphology in Mucolipidosis Type II
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Hip Morphology in Mucolipidosis Type II. / Ammer, Luise Sophie; Oussoren, Esmee; Muschol, Nicole Maria; Pohl, Sandra; Rubio-Gozalbo, M Estela; Santer, Rene; Stücker, Ralf; Vettorazzi, Eik; Breyer, Sandra.
in: J CLIN MED, Jahrgang 9, Nr. 3, 08.03.2020, S. E728.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Hip Morphology in Mucolipidosis Type II
AU - Ammer, Luise Sophie
AU - Oussoren, Esmee
AU - Muschol, Nicole Maria
AU - Pohl, Sandra
AU - Rubio-Gozalbo, M Estela
AU - Santer, Rene
AU - Stücker, Ralf
AU - Vettorazzi, Eik
AU - Breyer, Sandra
PY - 2020/3/8
Y1 - 2020/3/8
N2 - 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.
AB - 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.
U2 - 10.3390/jcm9030728
DO - 10.3390/jcm9030728
M3 - SCORING: Journal article
C2 - 32182687
VL - 9
SP - E728
JO - J CLIN MED
JF - J CLIN MED
SN - 2077-0383
IS - 3
ER -
