Neurodegeneration with Brain Iron Accumulation: A Case Report

Overview

Journal Dement Neuropsychol

Date 2017 Dec 8

PMID 29213449

Citations 3

Authors

Daniel Nassif

Joao Santos Pereira

Mariana Spitz

Claudia Capitao

Alessandra Faria

Affiliations

Soon will be listed here.

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

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