RHOMBOENCEPHALOSYNAPSIS MR-SEMIOTICS AND DIFFERENTIAL DIAGNOSIS
https://doi.org/10.22328/2079-5343-2018-9-2-28-33
Abstract
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.
About the Authors
M. V. Polyanskaya
Russian children’s clinical hospital
Russian Federation
Russian Federation
A. A. Demushkina
Russian children’s clinical hospital
Russian Federation
Russian Federation
Yu. A. Biryukova
Clinical hospital No. 1 (Volynsk) of the Russian Federation Presidential Property Management Department
Russian Federation
Russian Federation
A. A. Alikhanov
Russian children’s clinical hospital
Russian Federation
Russian Federation
References
1. Ishak G.E., Dempsey J.C., Shaw D.W. et al. Rhombence pha lo - synapsis: a hindbrain malformation associated with incomplete separationof midbrain and forebrain, hydrocephalus a nd a broad spectrum of severity // Brain. 2012. Vol. 135 (Pt 5). Р. 1370–1386.
2. Altman N.R., Naidich T.P., Braffman B.H. Posterior fossa malformations // Am. J. Neuroradiol. 1992. Vol. 13. Р. 691–724.
3. Truwit C.L., Barkovich A.J., Shanahan R., Maroldo T.V. MR imaging of rhombencephalosynapsis: report of three cases and review of the literature // Am. J. Neuroradiol. 1991. Vol. 12. Р. 957–965.
4. Barth P.G. Rhombencephalosynapsis: new findings in a larger study // Brain. 2012. Vol. 135 (Pt. 5). Р. 1346–1347.
5. Obersteiner H. Ein Kleinhirn ohne Wurm // Arb. Neurol. Inst. (Wien). 1914. Vol. 21. Р. 124–136.
6. Gross H. (1959) Die Rhombencephalosynapsis, eine systemisierte Klein - hirnfehlbindung // Eur. Arch. Psychiatry Neurol. Sci. 1999. Р. 537–552.
7. Tynan J., Szkup. Rhombencephalosynapsis // Radiol. J. 2008. Vol. 59. Р. 275–277.
8. Whitehead M.T., Choudhri A.F., Grimm J., Nelson M.D. Rhombencephalosynapsis as a cause of aqueductal stenosis: An under-recognized association in hydrocephalic children // Pediatr. Radiol. 2014. Vol. 44. Р. 849–856.
9. Passi G.R., Bhatnagar S. Rhombencephalosynapsis // Pediatr Neurol. 2015. Vol. 52. Р. 651–652.
10. Toelle S.P., Yalcinkaya C., Kocer N. et al. Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children // Neuropediatrics. 2002. Vol. 33. Р. 209–214.
11. Pasquier L., Marcorelles P., Loget P., Pelluard F., Carles D., Perez M.J. et al. Rhombencephalosynapsis and related anomalies: A neuropathological study of 40 fetal cases // Acta Neuropa tho - logica. 2009. Vol. 117. Р. 185–200.
12. Montull C., Mercader J.M., Peri J. et al. Neuroradiological and clinical findings in rhombencephalosynapsis // Neuroradiology. 2000. Vol. 42. Р. 272–274.
13. Sukhudyan B., Jaladyan V., Melikyan G., Schlump J.U., Boltshauser E., Poretti A. Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria // Eur. J. Pediatr. 2010. Vol. 169 (12). Р. 1523–1528.
14. Romanengo M., Tortori-Donati P., Di Rocco M. Rhomben cepha lo - synapsis with facial anomalies and probable autosomal recessive inheritance: a case report // Clin. Genet. 1997. Vol. 52. Р. 184–186.
15. Izzo G., Conte G., Cesaretti C., Parazzini C., Bulfamante G., Righini A. Prenatal magnetic resonance imaging of atypical partial rhomben-cephalosynapsis with involvement of the anterior vermis: two casereports // Neuropediatrics. 2015. doi: 10.1055/s-0035-1565274.
16. Poretti A., Boltshauser E. Fetal Diagnosis of Rhombence - phalosynapsis // Neuropediatrics. 2015. Vol. 46 Р. 357–358.
17. Arisoy R., Erdogdu E., Pekin O., Tugrul S. et al. A rare case of rhombencephalosynapsis and prenatal diagnosis // J. Obstet Gynaecol. 2016. Aug., Vol. 36 (6). Р. 839–841.
18. Paprocka J., Jamroz E., Scieszka E., Kluczewska E. Isolated rhomboencephalosynapsis—a rare cerebellar anomaly // Pol. J. Radiol. 2012. Vol. 77. Р. 47–49.
19. Shahrzad M., Gold M. Rhombencephalosynapsis: a rare congenital anomaly presenting with seizure and developmental delay // Acta Neurol. Belg. 2015. Vol. 115 Р. 685–686.
20. Chemli J., Abroug M., Kalthoum T., Abdelaziz H. Rhombencepha - lo synapsis diagnosed in childhood: clinical and MRI findings // Eur. J. Paediatr. Neurol. 2007. Vol. 11. Р. 35–38.
21. Mendonca J.L.F., Natal M.R.C., Viana S.L. et al. Rhombencepha - lo synapsis: CT and MRI findings // Neurology India. 2004. Vol. 52. Р. 118–120.
22. Tully H.M., Dempsey J.C., Ishak G.E. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis // Movement Disorders. 2013. Vol. 28, No. 14.
23. Kalane U., Atre A. Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus // Neurology India. 2016. P. 1381–1383.
24. Poretti A., Alber F.D., Bürki S., Toelle S.P., Boltshauser E. Cognitive outcome in children with rhombencephalosynapsis // Eur. J. Paediatr. Neurol. 2009. Vol. 13 (1). Р. 28–23.
Review
For citations:
Polyanskaya M.V., Demushkina A.A., Biryukova Yu.A., Alikhanov A.A. RHOMBOENCEPHALOSYNAPSIS MR-SEMIOTICS AND DIFFERENTIAL DIAGNOSIS. Diagnostic radiology and radiotherapy. 2018;(2):28-33. (In Russ.) https://doi.org/10.22328/2079-5343-2018-9-2-28-33
Views:
1249
Email this article 