РОМБЭНЦЕФАЛОСИНАПСИС: МР-СЕМИОТИКА И ДИФФЕРЕНЦИАЛЬНЫЙ ДИАГНОЗ

Rombencephalosynapsys (RES) is a rare variant of anomalies of the posterior cranial fossa structures characterized by dysplastic fusion of cerebellar hemispheres and absence or hypoplasia of cerebellar vermis. Purpose: to demonstrate the possibilities of modern neuroimaging in the RES diagnosis and to identify the main markers of the differential diagnosis in posterior fossa structures (PFS) anomalies. In the department of Radiology of Russian Children’s Clinical Hospital, we observed 3 patients with RES (1 girl and 2 boys). Patients age varied from 3 months to 9 years. The studies were performed on high-field MR system GE Discovery 750 W 3 T. Results: оn MRI in patients with RES we identified the spectrum of dysplastic anomalies of the vermis, from complete absence to partial aplasia with preservation of its anterior part. Also, there were 2 case with cerebellar dysplastic features, resemling RES. The transcerebellar sulci were estimated as the a clue diagnostic marker of RES. Conclusion: High-field MRI is the preferred diagnostic tool in the definition and differentiation of the developmental anomalies of the PFC in the children, especially in patients with RES.Диспластический профиль изменений структур задней черепной ямки достаточно обширен, однако особое место в ряду церебеллярных дисплазий, бесспорно, занимает ромбэнцефалосинапсис (РЭС) Это чрезвычайно редкая аномалия развития мозжечка, основное проявление которой — отсутствие долженствующего разобщения между церебеллярными гемисферами с частичной или полной агенезией червя. Цель работы: продемонстрировать возможности современной нейровизуализации в  идентификации ромбэнцефалосинапсиса и  обозначить основные маркеры дифференциального диагноза. В отделении лучевой диагностики ФГБУ РДКБ МЗ РФ мы наблюдали трех больных с  РЭС  — одну девочку и  двух мальчиков. Возраст пациентов составлял от  3 месяцев до  9 лет. Исследования выполнялись на магнитно-резонансном томографе Discovery 750 W компании GE с индукцией магнитного поля 3 Т. В результате исследования идентифицировали спектр диспластических изменений червя мозжечка, от его полного отсутствия до частичной аплазии с сохранением передней части. Кроме того, наблюдали 2 случая дисплазии мозжечка, мимикрирующей под РЭС. Благодаря высокому разрешению и отсутствию лучевой нагрузки высокопольная МРТ является предпочтительным диагностическим инструментом в определении и дифференциации редких аномалий структур ЗЧА у детей, в частности, такой спорадической патологии, как РЭС

A CASE OF CHRONIC SPHENOIDITIS WITH NEUROLOGIC AND OPHTHALMOLOGIC COMPLICATIONS

A case of chronic sphenoidal sinusitis in a girl of 9 years old is proposed; in clinical picture oculomotor dysfunction occurred (ptosis, strabismus divergent, diplopia, epiphora). The condition was masked by neurological symptoms, and so initial differential diagnosis was between 1) ocular form of myopathy (including mitochondrial diseases), 2) ocular form of myasthenia and 3) onset of multiple sclerosis. The definite diagnosis «pansinusitis» was proposed by neurologist only after attentive analysis of clinical symptoms and data of MRI, only since 1,5 year after beginning of the disease. This clinical case demonstrates the complexity of differential diagnosis of chronic sphenoidal sinusitis in children and necessity of developed clinical thinking for a doctor of every specialit

The role of susceptibility-weighted imaging (SWI) in neuroimaging in children with focal epilepsy

Aim. To approve of diagnostic effectiveness of SWAN (SWI) images in revealing of calcium containing epileptogenic substrates in children with resistant focal epilepsy.Materials and methods. The results of MRI in children with refractory focal epilepsy obtained in the Radiology Department of the Russian State Children Hospital in the period from 2018 to 2020 were observed retrospectively. High-resolution epileptological MR protocol used for investigation of 67 children. SWAN was applied in all cases for identification of calcium containing epileptogenic substrates, including cavernomas, DVA syndrome, cortical gangliogliomas, Sturge-Weber syndrome and tuberous sclerosis complex. All images were received by using MRI 3T 750 W Discovery GE.Results. In 17 cases (25%) SWAN provided important diagnostic information about the nature of the of epileptogenic lesion, its prevalence and borders. Additional earlier invisible structural changes were revealed in 2 cases of SWS and 1 cases of FCD; and in 13 cases SWAN gave us possibility to avoid CT for approving calcium in epileptogenic focus.Conclusion. We believe that adding SWAN in to the epileptological MR protocol is the necessary step for optimizing calcium and blood degradation products identification in the structure of potential epileptogenic focuses. Moreover, it would be very effective instrument for differential diagnosis of cerebral structural changes, specifying its etiology and, hence, would have influence on the therapeutic tactic and surgical strategy in children with focal epilepsy

Role of contrast-free MR-perfusion in the diagnosis of potential epileptogenic foci in children with focal epilepsia

ASL (Arterial Spin Labeling) – a novel modality of MR angiography – is based on radio-frequency labeling of aqueous protons in the arterial blood; the method is used to monitor blood supply to  organs, including the brain. So far there has been little information on the use of ASL in children with focal epilepsy, especially in the pre-surgery period.Aim: to evaluate the perfusion patterns in seizure-free children with drug resistant focal epilepsy (FE) using the ASL mode of MRI.Materials and methods. We studied the ASL data of 54 (23-boys/31 girls) patients with FE  treated in the Dpt. of Neurology at the Russian State Children Hospital from 2015 to 2018. The  patients’ age varied from 4 months to 17 years. All images were produced with a 3T GE Discovery  750W system.Results. We found several brain perfusion patterns in children with FE; among other factors, those patterns depended on the clinical status of the patient, i. e. the interictal period or the early post- seizure period. The main pattern of the interictal period was characterized by a focal decrease in  perfusion located around a structural focus identified on MRI scans. In the early post-seizure  period, there was an increase in the arterial perfusion in the area of a structural epileptogenic lesion.Conclusion. ASL-MRI is an effective diagnostic method providing more information on children  with FE during their pre-surgery phase. The ASL modality needs further research to rationalize its wider use as a preferred diagnostic tool or as a combination with the more complex PET and SPECT

Surgical treatment of epilepsy in a teenager with tuberous sclerosis

Tuberous sclerosis is one of the genetically determined neurodermal syndromes, characterized by focal epilepsy, which is resistant to drug therapy in most cases. Tuberous sclerosis has not been surgically treated for a long time due to the multifocal nature of brain damage. However, using new instrumental methods the surgeon can isolate tuber – “drivers”, responsible for epileptic induction, which, therefore, can be a target for surgical removal. The article presents a clinical case of the treatment of pharmacoresistant epilepsy in a 17-year-old girl with tuberous sclerosis and normal neuropsychiatric and cognitive status; the surgeon managed to achieve a complete regression of seizures after the surgical removal of one of the tubers. Using a multimodal complex of examinations, including high-resolution magnetic resonance imaging and invasive electroencephalographic monitoring, the surgeon managed to identify the “inductor” tuber associated with the epileptic initiation zone among multiple cortical tubers. This section of the cerebral cortex was subjected to surgical resection. For the entire postoperative period (16 months) there were no seizures and antiepileptic drugs were canceled; cognitive processes, memory were improved. Thus, active surgical tactics may be effective in more than 50% of patients with tuberous sclerosis and pharmacoresistant epilepsy. This case confirms the need for a multidisciplinary examination prior to the surgery in patients with tuberous sclerosis

MRI diagnosis of cortical dysplasia in the immature brain

Introduction. Cortical dysplasias (CDs) encompass a wide variety of disorders that in most cases lead to epilepsy, especially in infants and young children. MRI diagnosis of CDs is a major part of presurgical examination of pediatric patients with resistant focal epilepsy.Aim. To identify MR markers of CD in the immature brain and develop an MRI protocol for early diagnosis of CDs.Materials and methods. Children aged <2 y.o. (total 128) diagnosed with focal epilepsy were examined over 2017-2019. All MRI scans were performed using the GE 3 T system (General Electric, USA) in the standard MR sequences including T2WI FSE, T1 SE, FLAIR, DWI, SWAN, and FSPGR BRAVO supported with anesthesiological assistance. Аll patients were divided into 3 groups according to the degree of brain maturity; of those, 28 patients had MR signs of CD.Results. The rate of detection of small-size cortical malformations, such as nodular heterotopies or focal cortical dysplasias was significantly higher in groups of patients whose brains (according to MR images) were at the infantile or adult phases of myelination. In children with the isointensive phase myelination, only large cortical dysplasias could be identified. In the first phase, the focal malformations had low amplitude signals in T2-weighted images and high amplitude signals in T1, unlike those in adult patients. In the isointensive phase, the quality of visualization was significantly reduced and provided poor diagnostic information.Conclusion. The results confirm the diagnostic significance of early (before age of 5 months) MRI testing in cases with suspected CD-associated focal epilepsy. However, at the period between 5 and 12 months of age, MR imaging was ineffective for CD diagnosing. Later, in the period from 12 to 15 months, the MRI ability to identify the CDs gradually increased. We consider the standard T2 weighted images with high TR values, the most effective MR modality for diagnosing CDs in young children

РОМБЭНЦЕФАЛОСИНАПСИС: МР-СЕМИОТИКА И ДИФФЕРЕНЦИАЛЬНЫЙ ДИАГНОЗ

Rombencephalosynapsys (RES) is a rare variant of anomalies of the posterior cranial fossa structures characterized by dysplastic fusion of cerebellar hemispheres and absence or hypoplasia of cerebellar vermis. Purpose: to demonstrate the possibilities of modern neuroimaging in the RES diagnosis and to identify the main markers of the differential diagnosis in posterior fossa structures (PFS) anomalies. In the department of Radiology of Russian Children’s Clinical Hospital, we observed 3 patients with RES (1 girl and 2 boys). Patients age varied from 3 months to 9 years. The studies were performed on high-field MR system GE Discovery 750 W 3 T. Results: оn MRI in patients with RES we identified the spectrum of dysplastic anomalies of the vermis, from complete absence to partial aplasia with preservation of its anterior part. Also, there were 2 case with cerebellar dysplastic features, resemling RES. The transcerebellar sulci were estimated as the a clue diagnostic marker of RES. Conclusion: High-field MRI is the preferred diagnostic tool in the definition and differentiation of the developmental anomalies of the PFC in the children, especially in patients with RES.Диспластический профиль изменений структур задней черепной ямки достаточно обширен, однако особое место в ряду церебеллярных дисплазий, бесспорно, занимает ромбэнцефалосинапсис (РЭС) Это чрезвычайно редкая аномалия развития мозжечка, основное проявление которой — отсутствие долженствующего разобщения между церебеллярными гемисферами с частичной или полной агенезией червя. Цель работы: продемонстрировать возможности современной нейровизуализации в  идентификации ромбэнцефалосинапсиса и  обозначить основные маркеры дифференциального диагноза. В отделении лучевой диагностики ФГБУ РДКБ МЗ РФ мы наблюдали трех больных с  РЭС  — одну девочку и  двух мальчиков. Возраст пациентов составлял от  3 месяцев до  9 лет. Исследования выполнялись на магнитно-резонансном томографе Discovery 750 W компании GE с индукцией магнитного поля 3 Т. В результате исследования идентифицировали спектр диспластических изменений червя мозжечка, от его полного отсутствия до частичной аплазии с сохранением передней части. Кроме того, наблюдали 2 случая дисплазии мозжечка, мимикрирующей под РЭС. Благодаря высокому разрешению и отсутствию лучевой нагрузки высокопольная МРТ является предпочтительным диагностическим инструментом в определении и дифференциации редких аномалий структур ЗЧА у детей, в частности, такой спорадической патологии, как РЭС.</p