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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Date
2019
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Abstract
Pantothenate 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.
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Keywords
absent eye‐of‐the‐tiger sign, atypical PKAN, axial dystonia, deep brain stimulation, dystonic opisthotonus, globus pallidus internus.