Author(s): Nassif,Daniel ; Pereira,João Santos ; Spitz,Mariana ; Capitão,Cláudia ; Faria,Alessandra
Date: 2016
Origin: Oasisbr
Subject(s): PKAN; NBIA; PANK2
Document details
Neurodegeneration with brain iron accumulation: A case report
Description
ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 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.
Document Type
Report
Language English
Language English
