Related Experiment Video
Updated: Apr 16, 2026
Establishment of Central Cord Syndrome Model in C57BL/6J Mouse
Published on: September 8, 2023
Cervical spine MRI findings in patients with Mucopolysaccharidosis type II
Zbigniew Żuber1, Agnieszka Jurecka, Elżbieta Jurkiewicz
1Department of Pediatrics, St. Louis Regional Children's Hospital, Cracow, Poland.
Abstract:
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (EC 3.1.6.13). The purpose of this report is to describe cervical spine magnetic resonance (MRI) findings in MPS II patients and to correlate them with clinical phenotype. Seven cervical spine MRI examinations from Polish MPS II patients (mean age 11.4 years, median age 8 years, range 5-30) were evaluated. Six patients were classified as neurological (85.7%) and 1 as attenuated (14.3%). Five patients were treated with idursulfase (range 110-260 weeks, mean 195, median 200), while 2 patients never received the treatment. The following features were assessed: periodontoid thickening, spinal stenosis, dens hypoplasia, myelopathy, and vertebral and intervertebral disc abnormalities. Mean age at evaluation was 11 years (range 5-30, median 8). Cervical spine MRI was abnormal in all the patients and the most frequent abnormalities found were dens hypoplasia (100%), periodontoid thickening (100%), disc abnormalities (100%) and spinal stenosis (43%). There was no clear correlation between MRI findings and patients' phenotypes.
Insights
Cervical spine MRI scans revealed abnormalities in all Mucopolysaccharidosis type II (MPS II) patients, including dens hypoplasia and periodontoid thickening. These findings did not correlate with clinical phenotypes in the study group.
Area of Science:
- Medical Imaging
- Genetics
- Biochemistry
Background:
- Mucopolysaccharidosis type II (Hunter syndrome) is a rare X-linked recessive lysosomal storage disorder.
- It results from a deficiency in the enzyme iduronate-2-sulfatase (EC 3.1.6.13).
- Cervical spine involvement is a known complication, impacting patient health and mobility.
Purpose of the Study:
- To characterize cervical spine magnetic resonance imaging (MRI) findings in patients with Mucopolysaccharidosis type II (MPS II).
- To investigate potential correlations between observed MRI abnormalities and the clinical phenotype of MPS II.
- To provide insights into the anatomical changes in the cervical spine associated with MPS II.
Main Methods:
- Retrospective analysis of seven cervical spine MRI examinations from Polish MPS II patients.
- Evaluation of specific features: periodontoid thickening, spinal stenosis, dens hypoplasia, myelopathy, and vertebral/intervertebral disc abnormalities.
- Classification of patients based on neurological and attenuated phenotypes, and assessment of idursulfase treatment status.
Main Results:
- All evaluated patients (100%) exhibited cervical spine MRI abnormalities.
- The most prevalent findings included dens hypoplasia (100%), periodontoid thickening (100%), and disc abnormalities (100%).
- Spinal stenosis was present in 43% of patients; no clear correlation was found between MRI findings and clinical phenotypes.
Conclusions:
- Cervical spine MRI is consistently abnormal in patients with Mucopolysaccharidosis type II.
- Common abnormalities include dens hypoplasia, periodontoid thickening, and disc issues, regardless of clinical presentation or treatment.
- Further research is needed to understand the clinical significance and progression of these MRI findings.
