ÇİĞDEM SEVDA ERER ÖZBEK, Zuhal YAPICI, Erdem TÜZÜN, Murat GİRİŞ, Selcen DURAN, Özlem TAŞKAPILIOĞLU, Mehmet OKAN

A case of hyperkinetic movement disorder associated with LGI1 antibodies

Erer-Özbek S, Yapıcı Z, Tüzün E, Giriş M, Duran S, Taşkapılıoğlu Ö, Okan M. A case of hyperkinetic movement disorder associated with LGI1 antibodies. Turk J Pediatr 2015; 57: 514-517.Encephalitis associated with leucine-rich glioma inactivated 1 (LGI1) antibodies is often encountered in elderly male patients and may infrequently present with isolated syndromes. A 6-year-old boy was admitted with acute onset severe oral and facial stereotypic and choreiform movements. On his neurologic examination, he had repetitive and rhythmic movements in orolingual muscles including tongue protrusion, limb chorea and minimal facial stereotypic movements. Anti-streptolysin O (ASO) titers were found severely elevated in several measurements. Well-characterized antibodies against ion channels and synapse proteins were negative whereas LGI1 antibody was positive in both serum and CSF. Marked clinical improvement was observed after immunotherapy. Here, we present the first pediatric case with LGI1 antibody associated hyperkinetic movement disorders and emphasize the importance of investigating neuronal autoantibodies in patients with isolated and treatment resistant movement disorders

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1. Shin YW, Lee ST, Shin JW, et al. VGKC-complex/ LGI1-antibody encephalitis: clinical manifestations and response to immunotherapy. J Neuroimmunol 2013; 265: 75-81.

2. Lancaster E, Dalmau J. Neuronal autoantigens– pathogenesis, associated disorders and antibody testing. Nat Rev Neurol 2012; 8: 380-390.

3. Rubio-Agusti I, Salavert M, Bataller L. Limbic encephalitis and related cortical syndromes. Curr Treat Options Neurol 2013; 15: 169-184.

4. Fukata Y, Adesnik H, Iwanaga T, et al. Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science 2006; 313: 1792-1795.

5. Lai M, Huijbers MG, Lancaster E, et al. Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: a case series. Lancet Neurol 2010; 9: 776-785.

6. Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002; 30: 335-341.

7. Irani, S.R., Michell, A.W., Lang, B., et al. Faciobrachial dystonic seizures precede LGI1 antibody limbic encephalitis. Ann Neurol 2011; 69: 892-900.

8. Ramdhani RA, Frucht SJ. Isolated Chorea Associated with LGI1 antibody. Tremor Other Hyperkinet Mov (NY) 2014; doi: 10.7916/D8MG7MFC.

9. Tan KM, Lennon VA, Klein CJ, et al. Clinical spectrum of voltage-gated potassium channel autoimmunity. Neurology 2008; 70: 1883-1890.

10. Tofaris GK, Irani SR, Cheeran BJ, et al. Immunotherapyresponsive chorea as the presenting feature of LGI1- antibody encephalitis. Neurology 2012; 79: 195-196.

11. Mohammad SS, Ramanathan S, Brilot F, Dale RC. Autoantibody-associated movement disorders. Neuropediatrics 2013; 44: 336-345.

12. Baizabal-Carvallo JF, Stocco A, Muscal E, Jankovic J. The spectrum of movement disorders in children with anti-NMDA receptor encephalitis. Mov Disord 2013; 28: 543-547.

13. Kirvan CA, Swedo SE, Snider LA, Cunningham MW. Antibody-mediated neuronal cell signaling in behavior and movement disorders. J Neuroimmunol 2006; 179: 173-179.

14. Titulaer MJ, McCracken L, Gabilondo I, et al. Treatment and prognostic factors for long-term outcome in patients with anti-NMDA receptor encephalitis: an observational cohort study. Lancet Neurol 2013; 12: 157-165.

15. Dalmau J, Gleichman AJ, Hughes EG, et al. AntiNMDA-receptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol 2008; 7: 1091-1098.

16. Armangue T, Leypoldt F, Málaga I, et al. Herpes simplex virus encephalitis is a trigger of brain autoimmunity. Ann Neurol 2014; 317-323.