Structural Parameters of the Brain and Bone Structures of the Head and Neck in Patients with Various Types of Mucopolysaccharidoses According to Magnetic Resonance Imaging of the Brain

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Abstract

Background. Mucopolysaccharidoses are diseases from the group of lysosomal storage diseases that have a progressive course. CNS damage is one of the main factors in the development of severe, life-threatening complications. Aims — аssessment of structural changes in the brain and bones of the head and neck in patients with various types of mucopolysaccharidoses. Methods. The research included 136 children aged from 11 months to 17 years, 81 patients of which showed various types of mucopolysaccharidoses: MPS I — 15 people, MPS II — 37, MPS III A — 10, MPS IIIB — 4, MPS IIIC — 2, MPS IVA — 6, VI — 7 people. The control group included 56 children without neurological, psychiatric and severe somatic illnesses. Results. For mucopolysaccharidoses types I, II, III and VI, the most characteristic structural changes on the brain MRI were white matter lesions, mainly periventricular: expansion of the perivascular spaces (70%), atrophy of the cerebral hemispheres (42%), hippocampus, (31%), ventriculomegaly (6.2%), stenosis of the cervical spine (64%), hydrocephalus, expansion of the cerebrospinal fluid spaces of the posterior cranial fossa, arachnoid cysts. Conclusions. The results of the obtained data analysis made it possible to identify the macrostructural specifics of the brain disorders and cervical spine in various types of MPS, as well as their prognostic significance.

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About the authors

Anastasia I. Rykunova

Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery

Email: anarykunova@gmail.com
ORCID iD: 0000-0003-2458-4891
SPIN-code: 7873-9284

Junior Research Assistant

Russian Federation, Moscow

Nato D. Vashakmadze

Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University

Email: nato-nato@yandex.ru
ORCID iD: 0000-0001-8320-2027
SPIN-code: 2906-9190

MD, PhD

Russian Federation, Moscow; Moscow

Natalia V. Zhurkova

Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Research Centre for Medical Genetics

Email: n1972z@yandex.ru
ORCID iD: 0000-0001-6614-6115
SPIN-code: 4768-6310

MD, PhD

Russian Federation, Moscow; Moscow

Georgiy A. Karkashadze

Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery

Email: karkga@mail.ru
ORCID iD: 0000-0002-8540-3858
SPIN-code: 6248-0970

MD, PhD

Russian Federation, Moscow

Ekaterina Yu. Zakharova

Research Centre for Medical Genetics

Email: doctor.zakharova@gmail.com
ORCID iD: 0000-0002-5020-1180
SPIN-code: 7296-6097

MD, PhD

Russian Federation, Moscow

Alexey I. Firumyants

Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; National Medical Research Center for Children’s Health

Email: alexfirum@gmail.com
ORCID iD: 0000-0002-5282-6504
Russian Federation, Moscow; Moscow

Andrej N. Surkov

Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University

Author for correspondence.
Email: surkov@gastrockb.ru
ORCID iD: 0000-0002-3697-4283
SPIN-code: 4363-0200

MD, PhD

Russian Federation, Moscow; Moscow

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2. Fig.1. Comparative characteristics of structural changes in the brain and bone structures of the head and neck in patients with different types of mucopolysaccharidosis

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3. Fig.2. Focal changes in white matter and expansion of perivascular spaces. On axial images in T2-VI mode (A) and FLAIR (B) and sagittal images in T2-VI mode (C, D) - damage to the white matter of the cerebral hemispheres in the form of zones of hyperintense signal (blue arrows), expansion of perivascular spaces (short green arrows) in the peri- and intracallous areas, in the periventricular white matter

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4. Fig.3. Expansion of the Virchow-Robert spaces in a patient with MPS II (high degree), focal changes are also presented - periventricular, deep, subcortical, cervical spinal stenosis, ventricular dilatation. A - sagittal projection, B - axial projection.

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