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Arquivos de Neuro-Psiquiatria

versión impresa ISSN 0004-282Xversión On-line ISSN 1678-4227

Arq. Neuro-Psiquiatr. vol.77 no.4 São Paulo abr. 2019  Epub 13-Mayo-2019 

Images in Neurology

A complex association of cardiomyopathy, mild dysmorphisms and leukoencephalopathy

Uma associação complexa de cardiomiopatia, dismorfismos discretos e leucoencefalopatia

Paulo Victor Sgobbi de Souza1 

Luiz Henrique Libardi Silva1 

Bruno de Mattos Lombardi Badia1 

Igor Braga Farias1 

Wladimir Bocca Vieira de Rezende Pinto1

Acary Souza Bulle Oliveira1 

1Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.

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.

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). 

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. 

Partial trisomy 9p syndrome is a common chromosomal disorder associated with facial and appendicular dysmorphisms, congenital cardiopathy, cognitive and motor compromise1,2, and different patterns of neuroimaging disturbances, including neuronal migration disorders, Dandy-Walker malformation1,2 and leukoencephalopathy, as presented here.


1. Guilherme RS, Meloni VA, Perez AB, Pilla AL, Ramos MA, Dantas AG, et al. Duplication 9p and their implication to phenotype. BMC Med Genet 2014 Dec;15:142. ]

2. Federico A, Tomasetti P, Zollino M, Diomedi M, Dotti MT, De Stefano N, et al. Association of trisomy 9p and band heterotopia. Neurology 1999;53(2):430-2. [ Links ]

Received: December 15, 2018; Accepted: January 15, 2019

Correspondence: Wladimir Bocca Vieira de Rezende Pinto; Departamento de Neurologia e Neurocirurgia da UNIFESP; Rua Estado de Israel, 899; 04022-002 São Paulo SP, Brasil; E-mail:

Conflict of interest: There is no conflict of interest to declare.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.