Neurology Unit, Maggiore Hospital, Lodi, Italy.
Child Neuropsychiatry Unit, Epilepsy Center, University of Sassari, Sassari, Italy.
Seizure. 2021 Dec;93:8-12. doi: 10.1016/j.seizure.2021.09.021. Epub 2021 Oct 2.
Sunflower syndrome (SFS) is a rare childhood-onset generalized epilepsy characterized by photosensitivity, heliotropism, and drug-resistant stereotyped seizures maybe self-induced by hand-waving maneuvers. Data on the long-term prognosis are scantly and evidence over best treatment strategies is lacking.
We retrospectively describe the electroclinical features, and therapeutic response in a group of 21 patients with SFS, without intellectual disability.
16 patients were female (67%), with a median age at onset of 7 years. In all patients, ictal episodes began with sun-staring, and hand-waving in front of the sunlight, accompanied by brief typical absence seizures. 17 patients (81%) showed interictal EEG abnormalities, mainly characterized by spike and polyspike-and-wave discharges. Ictal epileptiform activity occurred approximately less than one second after the start of hand-waving. At the last follow-up (median length 8.2 years), 12 patients (57%) were drug-resistant. Nine of them (75%) achieved seizure control with the use of tainted lenses, either alone or compared with anti-seizure medications (ASM). Disappearance of seizures was associated with EEG improvement/normalization when tinted glasses were used during EEG recordings.
While the clinical and EEG characteristics of SFS are well defined, the best therapeutic approaches are still under debate. Our data confirms a high rate of drug-resistance and frequent need of polytherapy. Of note, in drug-resistant patients, lenses (but not ASM) were able to suppress PPR in our patients while wearing lenses. Regarding the role of lenses, we do not only rely on the PPR reduction but also clinically by the reduction of seizures. Although additional data are needed, lenses seem to have a powerful potential role for the management of SFS.
向日葵综合征（SFS）是一种罕见的儿童起病的全面性癫痫，其特征为光敏性、趋光性和耐药性刻板发作，可能由挥手动作引起。目前关于其长期预后的数据很少，缺乏最佳治疗策略的证据。
我们回顾性描述了一组 21 例无智力障碍的 SFS 患者的临床电特征和治疗反应。
16 例患者为女性（67%），发病中位年龄为 7 岁。所有患者的发作起始均为阳光凝视和在阳光下挥手，伴有短暂的典型失神发作。17 例患者（81%）存在间期脑电图异常，主要表现为棘波和多棘波-慢波放电。在手挥动作开始后约不到 1 秒出现发作期癫痫样活动。在最后一次随访（中位随访时间为 8.2 年）时，12 例患者（57%）为耐药性。其中 9 例（75%）单独或与抗癫痫药物（ASM）联合使用有色眼镜后达到了控制发作的效果。当在脑电图记录中使用有色眼镜时，癫痫发作的消失与脑电图的改善/正常化相关。
虽然 SFS 的临床和脑电图特征已经明确，但最佳治疗方法仍存在争议。我们的数据证实了耐药率高且经常需要联合治疗。值得注意的是，在耐药性患者中，镜片（而不是 ASM）在患者戴镜时能够抑制 PPR。关于镜片的作用，我们不仅依赖 PPR 的减少，还依赖于临床发作的减少。尽管需要更多的数据，但镜片在 SFS 的治疗中似乎具有强大的潜在作用。
