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

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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.

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europepmc
last seen: 2026-05-19T01:45:01.086888+00:00