Annals of the Russian academy of medical sciencesAnnals of the Russian academy of medical sciencesВестник Российской академии медицинских наук0869-60472414-3545"Paediatrician" Publishers LLC1161310.15690/vramn11613PEDIATRICS: CURRENT ISSUESАКТУАЛЬНЫЕ ВОПРОСЫ ПЕДИАТРИИResearch ArticleStructural 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 BrainСтруктурные параметры головного мозга и костных структур головы и шеи у пациентов с различными типами мукополисахаридозов по данным магнитно-резонансной томографии головного мозгаhttps://orcid.org/0000-0003-2458-48917873-9284RykunovaAnastasia I.РыкуноваАнастасия Ивановна
Russian Federation

Junior Research Assistant

младший научный сотрудник

anarykunova@gmail.comhttps://orcid.org/0000-0001-8320-20272906-9190VashakmadzeNato D.ВашакмадзеНато Джумберовна
Russian Federation

MD, PhD

д.м.н.

nato-nato@yandex.ruhttps://orcid.org/0000-0001-6614-61154768-6310ZhurkovaNatalia V.ЖурковаНаталия Вячеславовна
Russian Federation

MD, PhD

к.м.н.

n1972z@yandex.ruhttps://orcid.org/0000-0002-8540-38586248-0970KarkashadzeGeorgiy A.КаркашадзеГеоргий Арчилович
Russian Federation

MD, PhD

к.м.н.

karkga@mail.ruhttps://orcid.org/0000-0002-5020-11807296-6097ZakharovaEkaterina Yu.ЗахароваЕкатерина Юрьевна
Russian Federation

MD, PhD

д.м.н.

doctor.zakharova@gmail.comhttps://orcid.org/0000-0002-5282-6504FirumyantsAlexey I.ФирумянцАлексей Игоревич
Russian Federation
alexfirum@gmail.comhttps://orcid.org/0000-0002-3697-42834363-0200SurkovAndrej N.СурковАндрей Николаевич
Russian Federation

MD, PhD

д.м.н.

surkov@gastrockb.ruResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryРоссийский научный центр хирургии им. акад. Б.В. ПетровскогоPirogov Russian National Research Medical UniversityРоссийский национальный исследовательский медицинский университет имени Н.И. ПироговаResearch Centre for Medical GeneticsМедико-генетический научный центр им. Н.П. БочковаNational Medical Research Center for Children’s HealthНациональный медицинский исследовательский центр здоровья детей221220237854314401905202321092023Copyright ©; 2023, "Paediatrician" Publishers LLCCopyright ©; 2023, Издательство "Педиатръ"2023"Paediatrician" Publishers LLCИздательство "Педиатръ"https://vestnikramn.spr-journal.ru/jour/article/view/11613

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.

Обоснование. Мукополисахаридозы — заболевания из группы лизосомных болезней накопления, имеющие прогрессирующее течение. Поражение центральной нервной системы является одним из основных факторов развития тяжелых жизнеугрожающих осложнений. Цель исследования — оценка структурных изменений головного мозга и костных структур головы и шеи у пациентов с различными типами мукополисахаридозов. Методы. В исследование было включено 136 детей в возрасте от 11 мес до 17 лет. 81 пациент с различными типами мукополисахаридозов: МПС I — 15 человек, МПС II — 37, МПС IIIA — 10, МПС IIIB — 4, МПС IIIC — 2, МПС IVA — 6, VI — 7 человек. Группа контроля включала 56 детей без неврологических, психиатрических и тяжелых соматических заболеваний. Результаты. Для мукополисахаридозов I, II, III и VI типов наиболее характерными структурными изменениями на магнитно-резонансной томографии головного мозга являются поражения белого вещества, преимущественно локализованные перивентрикулярно: расширения периваскулярных пространств (70%), атрофии больших полушарий (42%), гиппокампа, (31%), вентрикуломегалия (6,2%), стенозы шейного отдела позвоночника (64%), гидроцефалия, расширения ликворных пространств задней черепной ямки, арахноидальные кисты. Заключение. Результаты анализа полученных данных позволили выявить макроструктурную специфику нарушений головного мозга и шейного отдела позвоночника при различных типах мукополисахаридозов, а также их прогностическую значимость.

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