Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran Iran.
Pediatr Neurol. 2020 Feb;103:76-78. doi: 10.1016/j.pediatrneurol.2019.06.004. Epub 2019 Jun 13.
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.
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.
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).
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.
舌突出痉挛是一种罕见的局灶性肌张力障碍，涉及舌部肌肉。导致舌突出痉挛的原因包括迟发性肌张力障碍、缺氧后肌张力障碍、神经棘红细胞增多症、泛酸激酶相关神经退行性变和莱施-尼汉综合征。
我们总结了 3 例泛酸激酶相关神经退行性变伴舌突出痉挛的儿童患者。所有患者均接受了详细的神经系统检查、脑部磁共振成像和基因检测。
舌突出痉挛是所有 3 名患者的突出且致残的症状。脑部磁共振成像显示所有患者均存在典型的“虎眼征”。2 名患者具有相同的基因突变（c.1168 A>T 突变，p.I390F）。
舌突出痉挛可能是肌张力障碍的潜在病因的一个线索，包括遗传性肌张力障碍。其中，泛酸激酶相关神经退行性变是一个重要的原因，特别是在儿童中。
