Department of Pediatrics, Division of Pediatric Neurology, University of Tennessee Health Science Center, Memphis, Tennessee; Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Le Bonheur Children's Hospital, Memphis, Tennessee.
Department of Neurology, University of Michigan, Ann Arbor, Michigan.
Pediatr Neurol. 2017 Nov;76:86-90. doi: 10.1016/j.pediatrneurol.2017.08.011. Epub 2017 Aug 26.
The 22q11.2 deletion syndrome affects multiple organ systems, and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. However, the different types of seizures, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) findings seen in this condition are not appreciated.
Medical records of four patients with epilepsy due to 22q11.2 deletion syndrome were retrospectively reviewed for documentation of seizure types, EEG, and brain MRI findings. In addition, we also did a literature review of previously reported individuals with unprovoked seizures in this condition.
A review of all published cases including our patients reveals that focal epilepsy (39 of 88, 44%) is the most common type followed by genetic generalized epilepsy (24 of 88, 27%). Diffuse cerebral atrophy and polymicrogyria were the most frequent MRI findings.
Patients with structural brain abnormalities, especially polymicrogyria and associated epilepsy should have a chromosomal microarray (CMA) performed to screen for the 22q11.2 deletion syndrome. Focal epilepsy and genetic generalized epilepsy are the most frequent epilepsy types reported in this condition.
22q11.2 缺失综合征影响多个器官系统，其神经表现是该疾病的一个重要方面。许多人都知道这种罕见的遗传疾病与心脏异常有关。然而，这种情况下出现的不同类型的癫痫发作、脑电图 (EEG) 和脑磁共振成像 (MRI) 表现并未得到重视。
回顾性分析了 4 例因 22q11.2 缺失综合征引起癫痫的患者的病历，以记录癫痫发作类型、脑电图和脑 MRI 结果。此外，我们还对该疾病中无诱因癫痫发作的既往报道进行了文献回顾。
对所有已发表的病例（包括我们的患者）进行回顾发现，局灶性癫痫（88 例中的 39 例，44%）是最常见的类型，其次是遗传性全面性癫痫（88 例中的 24 例，27%）。弥散性脑萎缩和多小脑回畸形是最常见的 MRI 表现。
有结构性脑异常的患者，尤其是多小脑回畸形和相关癫痫的患者，应进行染色体微阵列 (CMA) 检查以筛查 22q11.2 缺失综合征。局灶性癫痫和遗传性全面性癫痫是该疾病中最常见的癫痫类型。
