Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration Publisher Pubmed



Saeedi Y1 ; Kazemi F1 ; Habibi SAH1 ; Tafakhori A2 ; Chitsaz A3 ; Fasano A4, 5 ; Lang AE4, 5 ; Rohani M1
Authors
Show Affiliations
Authors Affiliations
  1. 1. Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran
  2. 2. Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Neurology, School of Medicine, Isfahan Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4. Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada
  5. 5. Krembil Brain Institute, Toronto, Ontario, Canada

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.