Rhombencephalosynapsis. Unresolved issues of a rare anomaly



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Abstract

Rhombencephalosynapsis (RES) is a rare anomaly of cerebellar development, which remains a diagnostic problem in the work of a radiologist. Important unresolved issues are its true prevalence, frequent diagnostic omissions in adult patients with dominant psychiatric symptoms, as well as the range of characteristic combined MRI findings. Based on the analysis of 41 publications (summarizing 72 cases), the article systematized the most common concomitant anomalies: agenesis of the transparent septum (46%), hydrocephalus (39%), anomalies of the corpus callosum (37.5%). The key role remains for magnetic resonance imaging (MRI), which is emphasized by the example of a 35-year-old patient with a resistant psychiatric disorder, whose RES was missed during the initial MRI examination and revealed only with a targeted reanalysis. The article briefly presents the available information on the prevalence and genetic predisposition of rhombencephalosynapsis, illustrates MRI images of patients from the literature, as well as their own observations. The authors emphasize the importance of increasing radiologists' alertness to RES in order to minimize diagnostic errors in children and adults, and therefore have developed recommendations for analyzing MRI images of the brain when detecting the above-described patterns.

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About the authors

Marat R. Gafiatulin

Saint Petersburg State Pediatric Medical University

Email: Gafiatulin_2000@mail.ru
ORCID iD: 0000-0002-5224-1717
SPIN-code: 5832-4224

2nd year resident

Russian Federation, 2, Litovskaya st., Saint Petersburg, 194100

Irina G. Kamyshanskaya

Saint Petersburg State University, Mariinskaya Hospital

Email: irinaka@mail.ru
ORCID iD: 0000-0002-8351-9216
SPIN-code: 2422-5191

MD, Dr. Sci. (Medicine), Assistant Professor

Russian Federation, Universitetskaya emb., 7-9, St.Petersburg, 199034; Liteyniy Avenue, 56, Saint Petersburg, 191014

Aleksandra S. Kudashkina

Saint Petersburg State University; Mariinskaya Hospital

Email: alkudashkina@gmail.com
ORCID iD: 0009-0004-3085-9964
SPIN-code: 7722-7418

Head of the Radiation Diagnostics Center, radiologist of the highest category, assistant of the Department of Radiation Diagnostics at the St. Petersburg State University Medical Institute, Head of the Department of Radiation Diagnostics. 

Russian Federation, Universitetskaya emb., 7-9, St.Petersburg, 199034; Liteyniy Avenue, 56, Saint Petersburg, 191014

Konstantin V. Shekhtman

Mariinskaya Hospital

Email: Schehtmankonstantin@mail.ru
ORCID iD: 0000-0002-7568-465X

Radiologist, Head of the MRI Department

Russian Federation, Liteyniy Avenue, 56, Saint Petersburg, 191014

Vladimir V. Ryazanov

Saint Petersburg State Pediatric Medical University

Email: 79219501454@yandex.ru
ORCID iD: 0000-0002-0037-2854
SPIN-code: 2794-6820
Scopus Author ID: 57204629827

MD, Dr. Sci. (Medicine), Associate Professor

Russian Federation, 2 Litovskaya st., Saint Petersburg, 194100

Alla R. Gozheva

Saint Petersburg State Pediatric Medical University

Author for correspondence.
Email: gozhevaaa@mail.ru
ORCID iD: 0009-0004-9295-9821
SPIN-code: 5597-7266

2nd year resident

Russian Federation, 2 Litovskaya st., Saint Petersburg, 194100

Nadezhda S. Fetisova

Saint Petersburg State Pediatric Medical University

Email: nadejda2019@icloud.com
ORCID iD: 0009-0008-2320-0888
SPIN-code: 8657-6172

4th year student at the Pediatric Faculty

2 Litovskaya st., Saint Petersburg, 194100

Daniil R. Mitrofanov

The Northwestern State Medical University named after I. I. Mechnikov

Email: daniilmitrofanov85@gmail.com
ORCID iD: 0009-0005-3091-8968
SPIN-code: 2992-5173

2nd year student at the Institute of Fundamental Medicine

Russian Federation, 41, Kirochnaya str., Saint Petersburg, 191015

Gulnaz K. Sadykova

Saint Petersburg State Pediatric Medical University; S. M. Kirov Military Medical Academy

Email: kokonya1980@mail.ru
ORCID iD: 0000-0002-6791-518X
SPIN-code: 3115-7430
Scopus Author ID: 57204633567

M.D., Ph.D. (Medicine)

Russian Federation, 2 Litovskaya st., Saint Petersburg, 194100; 6, Academician Lebedev St., Saint-Petersburg, 194044

Valery P. Kutsenko

Saint Petersburg State Pediatric Medical University

Email: val9126@mail.ru
ORCID iD: 0000-0001-9755-1906
SPIN-code: 5760-0218
Scopus Author ID: 57221996886

MD, Dr. Sci. (Medicine), Department of Modern Diagnostic Methods and Radiotherapy named after Professor S. A. Reinberg

Russian Federation, 2 Litovskaya st., Saint Petersburg, 194100

Ilya S. Khodkevich

S. M. Kirov Military Medical Academy

Email: hishimiya@mail.ru
ORCID iD: 0000-0003-0359-5831
SPIN-code: 3508-2360
Scopus Author ID: 59366432600

Врач-рентгенолог

Russian Federation, 6, Academician Lebedev St., Saint-Petersburg, 194044

Nikolai V. Belokhov

Saint Petersburg State Pediatric Medical University

Email: n.vyacheslavovich@internet.ru
ORCID iD: 0009-0003-9065-8657
SPIN-code: 1500-4344

врач-рентгенолог

2 Litovskaya st., Saint Petersburg, 194100

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