A complex association of cardiomyopathy, mild dysmorphisms and leukoencephalopathy

Abstract

A 44-year-old woman presented with a 15-year history of ataxic gait. Medical history disclosed global developmental delay and supravalvular aortic stenosis and persistent arterial duct. Examination showed facial dysmorphisms (dysmorphic ears, broad nose, ocular hypertelorism), dysbasia and bilateral dysmetria. Neuroimaging studies disclosed diffuse leukoencephalopathy ( Figures 1 and 2). Whole-exome sequencing was unremarkable. Microarray-based Comparative Genomic Hybridization disclosed 9p24.3 duplication, diagnosing partial trisomy 9p syndrome.Partial trisomy 9p syndrome is a common chromosomal disorder associated with facial and appendicular dysmorphisms, congenital cardiopathy, cognitive and motor compromise 1,2 , and different patterns of neuroimaging disturbances, including neuronal migration disorders, Dandy-Walker malformation 1,2 and leukoencephalopathy, as presented here. Figure 1. Neuroimaging findings in partial trisomy 9p syndrome. Sagittal (A), axial (B) and coronal (C) brain MRI disclosing thin corpus callosum and diffuse hyperintensity of periventricular, deep and subcortical cerebral and cerebellar white matter in T2-weighted sequences with corresponding hypointensity in T1-weighted sequence (D). A B C D Figure 2. (A-D) Axial brain MRI showing marked white matter involvement in cerebellar, superior cerebellar peduncle and anterior temporal pole, and diffuse hyperintensity of periventricular, deep and subcortical cerebral white matter in FLAIR sequences.