Abstract
Although increasingly recognised, ring chromosome 20 (r[20]) syndrome is still diagnosed with delay, sometimes leading to inappropriate presurgical evaluation. The focal, presumed frontal, character of the seizures manifesting with fear and hypermotor behaviour and episodes of non-convulsive status epilepticus (NCSE) are most typical, as well as cognitive impairment with behavioural problems and, sometimes, dysmorphic signs. We present a girl diagnosed at the age of 13 years who suffered from an atypical clinical presentation, with minimal cognitive problems, absence of dysmorphic symptoms, and hypermotor/gelastic seizures.
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Augustijn PB, Parra J, Wouters CH, Joosten P, Lindhout D, van Emde Boas W. Ring chromosome 20 epilepsy syndrome in children: electroclinical features. Neurology 2001; 57: 1108–1111.
Canevini MP, Sgro V, Zuffardi O, et al. Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. Epilepsia 1998; 39: 942–951.
Chassagnon S, Minotti L, Kremer S, et al. Restricted frontomesial epileptogenic focus generating dyskinetic behavior and laughter. Epilepsia 2003; 44: 859–863.
Cheung CS, Parrent AG, Burneo JG. Gelastic seizures: not always hypothalamic hamartoma. Epileptic Disord 2007; 9: 453–458.
Conlin LK, Kramer W, Hutchinson AL, et al. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. J Med Genet 2011; 48: 1–9.
Dericioglu N, Cataltepe O, Tezel GG, et al. Gelastic seizures due to right temporal cortical dysplasia. Epileptic Disord 2005; 7: 137–141.
Herrgard E, Mononen T, Mervala E, et al. More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosome. Epilepsy Res 2007; 73: 122–128.
Inoue Y, Fujiwara T, Matsuda K, et al. Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. Brain 1997; 120: 939–953.
Iwasa H, Shibata T, Mine S, et al. Different patterns of dipole source localization in gelastic seizure with or without a sense of mirth. Neurosci Res 2002; 43: 23–29.
Kobayashi K, Inagaki M, Sasaki M, Sugai K, Ohta S, Hashimoto T. Characteristic EEG findings in ring 20 syndrome as a diagnostic clue. Electroencephalogr Clin Neurophysiol 1998; 107: 258–262.
McConachie NS, King MD. Gelastic seizures in a child with focal cortical dysplasia of the cingulate gyrus. Neuroradiol 1997; 39: 44–45.
Mohamed IS, Otsubo H, Shroff M, Donner E, Drake J, Snead OC 3rd. Magnetoencephalography and diffusion tensor imaging in gelastic seizures secondary to a cingulate gyrus lesion. Clin Neurol Neurosurg 2007; 109: 182–187.
Nishiwaki T, Hirano M, Kumazawa M, et al. Mosaicism and phenotype in ring chromosome 20 syndrome. Acta Neurol Scand 2005; 111: 205–208.
Oehl B, Biethahn S, Schulze-Bonhage A. Mirthful gelastic seizures with ictal involvement of temporobasal regions. Epileptic Disord 2009; 11: 82–86.
Oehl B, Brandt A, Fauser S, Bast T, Trippel M, Schulze-Bonhage A. Semiologic aspects of epileptic seizures in 31 patients with hypothalamic hamartoma. Epilepsia 2010; 51: 2116–2123.
Sartori E, Biraben A, Taussig D, et al. Gelastic seizures: video-EEG and scintigraphic analysis of a case with a frontal focus; review of the literature and pathophysiological hypotheses. Epileptic Disord 1999; 1: 221–228.
Tanaka N, Kamada K, Takeuchi F. Ictal magnetoencephalographic study in a patient with ring 20 syndrome. J Neurol Neurosurg Psychiatry 2004; 75: 488–490.
Umeoka S, Baba K, Mihara T. Symptomatic laughter in a patient with orbitofrontal seizure: a surgical case with intracranial electroencephalographic study: case report. Neurosurgery 2008; 63: E1205–E1206; discussion E1206.
Unnwongse K, Wehner T, Bingaman W, Foldvary-Schaefer N. Gelastic seizures and the anteromesial frontal lobe: a case report and review of intracranial EEG recording and electrocortical stimulation case studies. Epilepsia 2010; 51: 2195–2198.
Vignoli A, Canevini MP, Darra F, et al. Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. Epilepsia 2009; 50: 2420–2427.
Ville D, Kaminska A, Bahi-Buisson N, et al. Early pattern in the ring chromosome 20 syndrome. Epilepsia 2006; 47: 543–549.
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Dimova, P., Boneva, I., Todorova, A. et al. Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration. Epileptic Disord. 14, 181–186 (2012). https://doi.org/10.1684/epd.2012.0508
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DOI: https://doi.org/10.1684/epd.2012.0508