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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.72 no.10 São Paulo Oct. 2014 

Images in Neurology

Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration

Retinose pigmentar na neurodegeneração associada à pantotenato quinase

José Luiz Pedroso 1  

Priscilla Proveti 1  

Luiz Fernando Teixeira 2  

Juliana Maria Ferraz Sallum 2  

Orlando G. P. Barsottini 1  

1Departamento de Neurologia, Universidade Federal de São Paulo, Sao Paulo SP, Brazil;

2Departamento de Oftalmologia, Universidade Federal de São Paulo, Sao Paulo SP, Brazil.

A 16-year-old boy presented to our hospital with 4-year-history of generalized dystonia (predominantly cranio-cervical and upper limbs) (Figure 1) and visual loss. Brain MRI revealed globus pallidus hypointensity with central hyperintense signal (eye-of-the-tiger) (Figure 2). Retinitis pigmentosa was observed in ophthalmologic evaluation (Figure 3). Genetic test confirmed mutation in PANK2 gene.

Figure 1 Dystonia in upper limbs (A). Note marked dystonia involving cranio-cervical segment and facial “grimacing” (B and C). 

Figure 2 Axial FLAIR (A), coronal FLAIR (B) and spin echo (C) sequences brain MRI disclose marked hypointense signal of the globus pallidus with central hyperintense signal (eye-of-the tiger appearance) (arrows). 

Figure 3 Note grainy appearance of the retinal pigmented epithelium, with fine dots, arteriolar thinning and peripapillary pigmentation on the temporal optic disc border. Those are mild signs of retinal degeneration, due to early retinitis pigmentosa. 

Pantothenate kinase-associated neurodegeneration (PKAN) is classically characterized by early-onset dystonia and pyramidal signs but other features may include parkinsonism, choreoathetosis and dementia1. Brain MRI typically depicts the eye-of-the-tiger pattern1. When retinitis pigmentosa, an unusual finding3, is observed in the clinical spectrum of PKAN, we must consider variants2,3,4, such as HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration).


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Received: April 29, 2014; Revised: July 01, 2014; Accepted: July 21, 2014

Correspondence: José Luiz Pedroso; Rua Botucatu, 740; 04023-900 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 Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.