Microdeletion in the 16p11.2 loci lead to a distinct neurodevelopmental disorder with intellectual disability and autism spectrum disorder in addition to dysmorphia, macrocephaly, and increased body mass index. One of the deleted genes in this region is PRRT2 which codes for proline-rich transmembrane protein 2. Heterozygous variants in PRRT2 cause four distinct neurological disorders including benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD), PKD with infantile convulsions, and familial hemiplegic migraine (FHM). A 13-year-old male with a known history of 16p11.2 deletion and resultant cognitive delay presented with sudden onset of headache, left-sided weakness, facial droop, and aphasia concerning for acute ischemic stroke. Magnetic resonance imaging of the brain was performed urgently which did not reveal any acute processes and his presentation met criteria for hemiplegic migraine. There have been reports of PKD and BFIE in this microdeletion syndrome; however, our proband is the first case that presented with FHM related to haploinsufficiency of PRRT2. This report highlights the importance of counseling patient families regarding acute paroxysmal presentations in this syndrome.

16p11.2 基因座中的微缺失导致一种明显的神经发育障碍，除了畸形、大头畸形和体重指数增加外，还伴有智力障碍和自闭症谱系障碍。该区域中缺失的基因之一是PRRT2，它编码富含脯氨酸的跨膜蛋白2。PRRT2中的杂合变体引起四种不同的神经系统疾病，包括良性家族性婴儿癫痫（BFIE）、阵发性运动机能障碍（PKD）、伴有婴儿惊厥的PKD和家族性偏瘫偏头痛（FHM）。一名 13 岁男性，已知有 16p11.2 缺失和由此导致的认知延迟，表现为突发头痛、左侧无力、面部下垂和失语，与急性缺血性卒中有关。紧急进行了大脑的磁共振成像，没有发现任何急性过程，他的表现符合偏瘫性偏头痛的标准。在这种微缺失综合征中有 PKD 和 BFIE 的报道；然而，我们的先证者是第一个出现与 PRRT2 单倍体不足有关的 FHM病例. 本报告强调了就该综合征的急性发作性表现向患者家属提供咨询的重要性。