Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

A Rare Case Report of Rhombencephalosynapsis:- The Donald Duck Sign of Unique Cerebellar Malformation

Version 1 : Received: 16 December 2023 / Approved: 18 December 2023 / Online: 18 December 2023 (11:01:54 CET)

How to cite: Soni, Z.; Desai, D.; Shah, S.; Gami, V. A Rare Case Report of Rhombencephalosynapsis:- The Donald Duck Sign of Unique Cerebellar Malformation. Preprints 2023, 2023121314. https://doi.org/10.20944/preprints202312.1314.v1 Soni, Z.; Desai, D.; Shah, S.; Gami, V. A Rare Case Report of Rhombencephalosynapsis:- The Donald Duck Sign of Unique Cerebellar Malformation. Preprints 2023, 2023121314. https://doi.org/10.20944/preprints202312.1314.v1

Abstract

Rhombencephalosynapsis (RES) is a rare, congenital developmental disorder of the central nervous system. Even after many years of its identification, the etiology and pathogenesis of RES remain unclear. It occurs in combination with many syndromes and thus has overlapping symptoms. The clinical presentation of this disorder varies depending on the severity of the maldevelopment of vermis. Here, we present a case of a 60-year-old Indian female diagnosed with Rhombencephalosynapsis. Clinical and MRI characteristics of RES along with treatment options have been discussed.

Keywords

Rhombencephalosynapsis; congenital; maldevelopment; vermis;  central nervous system

Subject

Medicine and Pharmacology, Neuroscience and Neurology

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