Neuronal inclusions and α-Synucleinopathy in a patient with 5p deletion syndrome

Abstract

The chromosome 5p deletion (5p-) syndrome, also known as Cri du chat syndrome, is among the most common contiguous gene deletion disorders [1]. Most 5p- cases are thought to arise from a de novo deletion; however, 10–15% of 5p- cases are the result of an unbalanced parental translocation. The 5p- classic phenotype includes a characteristic cry, dysmorphic features, growth and developmental delays, while it may present with a wide spectrum of features such as seizures. Neuroimaging studies have shown a few 5p- phenotypic features including microcephaly, hypoplastic brainstem, and partial agenesis of the corpus callosum [2], but neuropathology in 5p- syndrome is rarely described.