Diagnostic imaging in patients with mucopolysaccharidosis: important imaging patterns

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Abstract

Background: The need for systematization, generalization and analysis of structural changes in various organs and systems that occur in patients with mucopolysaccharidosis (MPS). MPS is a rare disease, therefore, there is a lack of structured information in Russian publications in the field of radiology. Aims: The purpose of the study is to summarize our own experience, identifying the incidence of changes in various organs and describing the most significant changes and their causes. Identification of more informative and safe diagnostic methods of various organs, taking into account the specificity of changes in MPS. Methods: Retrospectively, 303 children with MPS of different types were examined (the sample included 70 cases verified by the laboratory studies and molecular genetics), the revision of tomograms and radiographs was carried out for the studies from 2015 to 2021. All the patients underwent MRI of the brain and cervical spine, X-ray of the skeletal bones. Results: The analysis of the obtained images revealed the most common changes, such as dysostosis (in 100%; 70 patients), stenosis of the spinal canal at the craniovertebral level (73%; 51 patients), atrophy (47%; 33 patients) and focal lesions of the brain substance (67%; 47 patients), hydrocephalus (28%; 20 patients), expansion of the perivascular spaces (70%; 58 patients). The pathophysiological mechanisms of the occurrence of structural changes have been analyzed and described. Conclusions: The assessment and comparison of various diagnostic methods for different organs and systems has demonstrated that MRI is the most informative imaging method for the assessment of the craniovertebral junction. Given the lower radiation exposure compared to computed tomography, it is preferable to use digital radiography for examining the bones of the extremities.

About the authors

Igor I. Yarmola

National Medical Research Center for Children’s Health

Author for correspondence.
Email: lord_dukich@bk.ru
ORCID iD: 0000-0002-1272-5119
SPIN-code: 5591-8066

Radiologist; address

Russian Federation, 2, b. 1, Lomonosovsky prospekt, Moscow, 119991

Anatoly V. Anikin

National Medical Research Center for Children’s Health

Email: anikacor@gmail.com
SPIN-code: 7592-1352

MD, Cand. Sci. (Med.)

Russian Federation, 2, b. 1, Lomonosovsky prospekt, Moscow, 119991

Lyubov E. Fomina

National Medical Research Center for Children’s Health

Email: love.fomina@mail.ru

Resident of Radiology Department

Russian Federation, 2, b. 1, Lomonosovsky prospekt, Moscow, 119991

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2. Fig. 1. Head MRI, T2 WI axial plane: a, б — arrow: multiple enlarged perivascular spaces; subarachnoid space and cerebral sulci are also dilated, that indicates cerebral atrophy. Skull bones are thickened.

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3. Fig. 2. Head MRI: a (T2-WI axial plane) — lateral ventricles are markedly dilated due to hydrocephalus. Periventricular white matter lesions need to be differentiated between transependymal edema and cerebral lesions due to mucopolysaccharidosis; b (T2-WI axial plane) — arrow: shunt in a lateral ventricle; curved arrow: an enlarged and deformed lateral ventricle. Thinning periventricular white matter and enlarged cerebral sulci must be noted as a sign of cerebral atrophy; c (T2-WI sagittal plane) — arrow: an enlarged cisterna magna (mega cisterna magna). The occipital is bone locally thinned due to the liquor's pulsation.

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4. Fig. 3. Head MRI, T2-WI axial plane. Arrows: dilated subarachnoid spaces and sulci as a sign of cerebral atrophy. Also noted are enlarged perivascular spaces in the peritrig-onal region.

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5. Fig. 4. Head MRI, T2 Flair axial plane: a — arrows: non-specific white matter lesions (in this patient, the lesions are related to mucopolysaccharidoseies); b — arrows: periventricular confluent white matter lesions, simulating involvement patterin of leukodystrophy. Dilated ventricles and perivascular spaces are also noted.

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6. Fig. 5. Spinal dysostosis: a (computer tomography of the vertebral column in the sagittal plane) — arrow: thickening, shortening and deformity of the sternum, curved arrow: flattening and deformation of vertebral bodies; b (MRI T2-WI in the sagittal plane) — arrow: the vertebral canal stenosis due to enlarged periodontoid soft tissue.

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Copyright (c) 2021 Yarmola I.I., Anikin A.V., Fomina L.E.

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