Lingual Dyskinesia and Tics: A Novel Presentation of Copper-Metabolism Disorder

Abstract

Copper is a trace element that is required for cellular respiration, neurotransmitter biosynthesis, pigment formation, antioxidant defense, peptide amidation, and formation of connective tissue. Abnormalities of copper metabolism have been linked with neurologic disorders that affect movement, such as Wilson disease and Menkes disease; however, the diagnosis of non-Wilson, non-Menkes-type copper-metabolism disorders has been more elusive, especially in cases with atypical characteristics. We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and did not show any signs of dysarthria or dysphagia. His serum copper and ceruloplasmin levels were low, but his urinary copper level was elevated after penicillamine challenge. We conclude that copper-metabolism disorders should be included in the differential diagnosis for movement disorders, even in cases with highly unusual presentations, because many of them are treatable. Moreover, a connection between copper-metabolism disorders and tics is presented, to our knowledge, for the first time in humans; further investigation is needed to better establish this connection and understand its underlying pathophysiology.

Laterotrusion (Side to Side) and Protrusion/Retraction Difficulty of Tongue in Two Children with Wilson's Disease

“…7,8 Tongue can get involved in WD due to dystonia, tremor, and dyskinesia. 2,3,7,8 Isolated lingual involvement is a rare manifestation of WD and to the best of our knowledge only few cases have been reported in the past. [2][3][4][5][6] Of these reported cases, one patient had lingual dyskinesia, another had tremor of the tongue as an isolated finding and the third patient had lingual dystonia with abnormal protrusion of the tongue.…”

“…Kayser Fleischer ring was present. Fibroscan was 27 kPa (1)(2)(3)(4)(5)(6). MRI fluid-attenuated inversion recovery (FLAIR) image brain showed bilaterally symmetrical hyperintensity involving the basal ganglia, thalami, and mid brain consistent with changes associated with Wilson's disease.…”

“…Bradykinesia, dyskinesia, dystonia, undulations, and tremors of the tongue have been reported in WD. [2][3][4][5] The tongue involvement usually improves on chelation therapy. 5,6 We present two children with tongue bradykinesia of different types.…”

Undulating tongue in Wilson′s disease

“…[4] Acute severe hemilingual dyskinesias have also been described in non-Wilson's, non-Menkes disorders of copper metabolism, in the presence of normal brain and spinal MRI, wherein it has been posited that abnormal copper deposition per se might cause abnormal lingual movements by yet unknown mechanism. [5]…”

Анализ Сывороточной Концентрации Марганца И Других Химических Элементов У Детей С Синдромом Дефицита Внимания И Гиперактивности (Сдвг) И Тиками

“…В отдельных работах выявлена взаимосвязь между наличием тиков и снижением уровня железа, меди и цинка (Qian et al, 2019). Отмечается взаимосвязь между наличием тиков и нарушением обмена меди (Goez et al, 2011), а также наличием железодефицита (Chen et al, 2013).…”