Spagnoli Carlotta, Kugathasan Umaiyal, Brittain Helen, Boyd Stewart G
Neurophysiology Department, Great Ormond Street Hospital, London, UK.
Neurophysiology Department, National Hospital for Neurology and Neurosurgery, London, UK.
Brain Dev. 2015 Aug;37(7):704-13. doi: 10.1016/j.braindev.2014.10.007. Epub 2014 Oct 28.
Patau syndrome, trisomy 13, is the third commonest autosomal trisomy. It is associated with a 25-50% prevalence of epilepsy, but detailed electroclinical descriptions are rare. The occurrence of early-onset photosensitivity has recently been reported in single patients.
MATERIALS/PATIENTS: We collected electroclinical data on 8 infants (age range from 2 months to 3 years and 9 months, median: 17 months) with Patau syndrome referred for an EEG in our Clinical Neurophysiology Department between 1991 and 2011.
All EEGs, case-notes, cytogenetic diagnosis and neuroimaging when available were reviewed; data on the occurrence of seizures, epileptiform discharges, photoparoxysmal response and their characteristics in terms of positive frequencies, latencies, grade and duration were noted and analysed.
Two patients had been previously diagnosed with epilepsy (one with tonic spasms and one with multiple seizure types). We found 3 patients with photosensitive myoclonic epilepsy (37.5%), and one with non-photosensitive myoclonic epilepsy. We also recorded non-epileptic myoclonic jerks in one patient known to suffer from epileptic spasms. Among photosensitive patients we found self-limited, Waltz's grade 2-4, spike-wave/polyspike-wave discharges in low, medium and high frequency ranges in two patients and in the high frequency range in the third patient, with latencies and duration from less than 1s to a maximum of 9s.
In our cohort of Patau syndrome patients, we found a high prevalence of spasms and photic-induced myoclonic jerks. Photosensitivity shows an unusual early age of onset.
帕陶综合征，即13三体综合征，是第三常见的常染色体三体疾病。其癫痫患病率为25% - 50%，但详细的电临床描述较为罕见。近期有单例患者报道了早发性光敏性的发生情况。
材料/患者：我们收集了1991年至2011年间因脑电图检查转诊至我们临床神经生理科的8例帕陶综合征婴儿（年龄范围从2个月至3岁9个月，中位数：17个月）的电临床数据。
回顾了所有脑电图、病历记录、细胞遗传学诊断以及可获取的神经影像学资料；记录并分析了癫痫发作、癫痫样放电、光阵发性反应的发生情况及其在阳性频率、潜伏期、分级和持续时间方面的特征。
两名患者先前已被诊断患有癫痫（一名为强直性痉挛，一名为多种发作类型）。我们发现3例光敏性肌阵挛癫痫患者（37.5%），1例非光敏性肌阵挛癫痫患者。我们还在一名已知患有癫痫性痉挛的患者中记录到了非癫痫性肌阵挛抽搐。在光敏性患者中，我们发现两名患者在低频、中频和高频范围内出现自限性、华尔兹分级为2 - 4级的棘波/多棘波放电，第三名患者仅在高频范围内出现，潜伏期和持续时间从不到1秒至最长9秒。
在我们的帕陶综合征患者队列中，我们发现痉挛和光诱导性肌阵挛抽搐的患病率很高。光敏性表现出不寻常的早发性。
