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Case Reports
. 2016 Jul-Sep;10(3):251-253.
doi: 10.1590/S1980-5764-2016DN1003014.

All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report

Raquel Quimas Molina da Costa  1 , Rogério Paysano Marrocos  2 , Marco Antonio Araujo Leite  3 , Fabio Henrique Gobbi Porto  4
Affiliations
Case Reports

All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report

Raquel Quimas Molina da Costa et al. Dement Neuropsychol. 2016 Jul-Sep.

Abstract
in English, Portuguese

The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric problems. This paper reports the case of a patient with apparent typical symptoms of Tourette syndrome. However, the severity and poor response to treatment led to further investigation and the diagnosis of PKAN as a secondary cause of Tourettism was reached.

A forma atípica de PKAN costuma se apresentar por volta dos 14 anos de idade, possui uma sintomatologia heterogênea, com sintomas extrapiramidais e, em cerca de um terço dos pacientes, também com a manifestação de sintomas psiquiátricos. O presente artigo relata o caso de uma paciente com sintomatologia típica da Síndrome de Tourette à primeira vista. Entretanto, a gravidade do quadro e pouca resposta ao tratamento levaram a uma maior investigação e ao diagnóstico de PKAN como causa secundária do Tourettismo.

Keywords: PKAN; Tourette syndrome; Tourettism; neurodegeneration; pantothenate kinase.

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Conflict of interest statement

Disclosure: The authors report no conflicts of interest.

Figures

Figure 1
Figure 1. Coronal and axial T2-weighted MRI of patient A showing the "eye of the tiger sign".
See this image and copyright information in PMC

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