Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome
Tóm tắt
Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus. The electro-clinical evaluation of prolonged seizures and their long-term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.
Tài liệu tham khảo
Kagitani-Shimono K, Imai K, Otani K, et al. Epilepsy in Wolf-Hirschhorn syndrome (4p-). Epilepsia 2005; 46: 150–155.
Kaplan PW. EEG criteria for nonconvulsive status epilepticus. Epilepsia 2007; 48: 39–41.
Locharernkul C, Ebner A, Promchainant C. Ring chromosome 20 with nonconvulsive status epilepticus: electroclinical correlation of a rare epileptic syndrome. Clin EEG Neurosci 2005; 36: 151–160.
Morimoto M, Usuku T, Tanaka M, et al. Ring Chromosome 14 with localization-related epilepsy: three cases. Epilepsia 2003; 44: 1245–1249.
Ono J, Nishiike K, Imai K, Otani K, Okada S. Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. Pediatr Neurol 1999; 20: 70–72.
Pelc K, Boyd SG, Cheron G, Dan B. Epilepsy in Angelman syndrome. Seizure 2008; 17: 211–217.
Ricard-Mousnier B, N’Guyen S, Dubas F, Pouplard F, Guichet A. Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome. Epileptic Disord 2007; 9: 327–331.
Schlade-Bartusiak K, Costa T, Summers AM, Nowaczyk MJ, Cox DW. FISH-Mapping of telomeric 14q32 deletions: search for the cause of seizures. Am J Med Genet A 2005; 138A: 218–224.
Shirasaka Y, Ito M, Okonu T, Fujii T, Nozaki K, Mikawa H. Ring 14 chromosome with complex partial seizures: a case report. Brain Dev 1992; 14: 257–260.
Treiman DM, Delgado-Escueta AV. Complex partial status epilepticus. Adv Neurol 1983; 34: 68–81.
Van karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC. Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet 2002; 110: 65–72.
Ville D, DE Bellescize J, Nquyen MA, et al. Ring 14 chromosome presenting as early-onset isoleted partial epilepsy. Dev Med Child Neurol 2009; 51: 917–922
Zelante L, Torricelli F, Calvano S, Mingarelli R, Dallapiccola B. Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. Ann Genet 1991; 34: 93–97.
Zollino M, Seminara L, Orteschi D, et al. The ring 14 syndrome: clinical and molecular definition. Am J med Genet A 2009; 149A:1116–1124.