Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration Publisher Pubmed



Saeedi Y¹ ; Kazemi F¹ ; Habibi SAH¹ ; Tafakhori A² ; Chitsaz A³ ; Fasano A^{4, 5} ; Lang AE^{4, 5} ; Rohani M¹
Source: Pediatric Neurology Published:2020

Abstract

Background: Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, and Lesch-Nyhan syndrome. Method: We summarize three children with pantothenate kinase-associated neurodegeneration and tongue protrusion dystonia. All three patients underwent careful neurological examination, brain magnetic resonance imaging, and genetic testing. Results: Tongue protrusion dystonia was a prominent and disabling symptom in all three patients. Brain magnetic resonance imaging revealed a typical eye of the tiger sign in all patients. Two patients had the same genetic mutation (c.1168 A>T mutation, p.I390F). Conclusions: Tongue protrusion dystonia may be a clue to the underlying etiology of dystonia, including hereditary forms of dystonia. Among them, pantothenate kinase-associated neurodegeneration is an important cause, especially in children. © 2019 Elsevier Inc.