Publication:
Amelioration of Dystonic Opisthotonus in Pantothenate Kinase‐Associated Neurodegeneration Syndrome with Absent “Eye‐of‐the‐Tiger” Sign Following Bilateral Pallidal Deep Brain Stimulation

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dc.contributor.authorNor Amelia Mohd Fauzi
dc.contributor.authorNorlinah Mohamed Ibrahim
dc.contributor.authorShahizon Azura Mohamed Mukari
dc.contributor.authorThanabalan Jegan
dc.contributor.authorZariah Abdul Aziz
dc.date.accessioned2024-05-13T04:52:02Z
dc.date.available2024-05-13T04:52:02Z
dc.date.issued2019
dc.description.abstractPantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder causing progressive generalized dystonia characterized by neurodegeneration and brain iron accumulation (NBIA) due to pantothenate kinase 2 (PANK2) gene mutations.1 The radiological hallmark of PKAN, the “eye-of-the-tiger” sign, characterized by bilateral hypointensity with central hyperintensity in the globus pallidus on T2-weighted brain Magnetic Resonance Imaging (MRI) may be absent in some cases.2 Hence, clinicians may rely on phenotypic clues to aid diagnosis. Despite genetic advances, treatment for NBIA remains symptomatic. Bilateral globus pallidus internus deep brain stimulation (GPi-DBS) has been successful in PKAN patients refractory generalized dystonia.3 Herein we report a case of an atypical PKAN patient with severe dystonic opisthotonus and absent eye-of-the-tiger sign who obtained significant improvement following bilateral GPi-DBS.
dc.identifier.doihttps://doi.org/10.1002/mdc3.12748
dc.identifier.urihttps://repository.nih.gov.my/handle/123456789/275
dc.identifier.urihttps://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.12748
dc.language.isoen
dc.relation.ispartofMovement Disorders Clinical Practice
dc.relation.issn2330-1619
dc.subjectabsent eye‐of‐the‐tiger sign
dc.subjectatypical PKAN
dc.subjectaxial dystonia
dc.subjectdeep brain stimulation
dc.subjectdystonic opisthotonus
dc.subjectglobus pallidus internus.
dc.titleAmelioration of Dystonic Opisthotonus in Pantothenate Kinase‐Associated Neurodegeneration Syndrome with Absent “Eye‐of‐the‐Tiger” Sign Following Bilateral Pallidal Deep Brain Stimulation
dc.typejournal-article
dspace.entity.typePublication
oaire.citation.issue4
oaire.citation.volume6
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