Aravindhan Akilandeswari, Shah Kinal, Pak Jayoung, Veerapandiyan Aravindhan
Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School, Newark, NJ, USA.
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Epileptic Disord. 2018 Jun 1;20(3):214-218. doi: 10.1684/epd.2018.0969.
We describe a 10-month-old boy with early-onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3-q34.11 involving STXBP1 and SPTAN1 genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hypotonia, and facial dysmorphisms. Interictal EEG showed multifocal polyspike and wave during wakefulness and sleep. Ictal EEG revealed low-amplitude generalized sharp slow activity, followed by diffuse attenuation. Metabolic testing was unrevealing. Brain MRI showed thinning of the corpus callosum with an absence of rostrum. This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. Larger case series are needed to better delineate this association.
我们描述了一名患有早发性癫痫性脑病的10个月大男孩，其9q33.3 - q34.11区域存在半合子缺失，涉及STXBP1和SPTAN1基因。他在2.5个月大时出现频繁的上肢肌阵挛、肌张力减退和面部畸形。发作间期脑电图显示清醒和睡眠期间多灶性多棘波和慢波。发作期脑电图显示低振幅广泛性尖慢活动，随后是弥漫性衰减。代谢检查未发现异常。脑部磁共振成像显示胼胝体变薄，无嘴部。该患者是第二例报道的9q33.3 - q34.11缺失涉及与癫痫性脑病和肌阵挛发作相关的STXBP1和SPTAN1基因的病例。需要更大的病例系列来更好地描述这种关联。
