Abstract：
Primrose syndrome (PS) is a rare genetic disease characterized by developmental delay, intellectual disability, sensorineural hearing loss, and dysmorphic features. PS is caused by de novo pathogenic variants in the ZBTB20 gene, which encodes a transcription factor modulating neurogenesis. We describe resolution with sertraline of neurobehavioral difficulties in a 17-year-old Hispanic male with PS with de novo heterozygous c.1916G > A (p.C639Y) variant of ZBTB20. Neurobehavioral difficulties included aggression towards self and others, irritability, tearfulness, and mood liability that did not respond to behavioral interventions or aripiprazole. Treatment with sertraline, a medication indicated for psychiatric disorders including anxiety and depression, led to the resolution of neurobehavioral difficulties after 2 weeks of initiation of medication. The treatment course suggests that selective serotonin reuptake inhibitors, such as sertraline, may be a useful tool for neurobehavioral difficulties in PS over antipsychotics that are accompanied by complex side effect profiles, and suggest that anxiety is the primary cause of the neurobehavioral difficulties in this patient.
摘要：
报春花综合征（PS）是一种罕见的遗传性疾病，以发育迟缓为特征，智力残疾,感觉神经性听力损失,和畸形特征。PS是由ZBTB20基因中的从头致病变体引起的，它编码调节神经发生的转录因子。我们描述了一名17岁的西班牙裔男性的神经行为困难的舍曲林解决方案，该男性患有从头杂合c.1916G>A（pZBTB20的C639Y)变体。神经行为困难包括对自我和他人的攻击，烦躁，泪流满面,和对行为干预或阿立哌唑无反应的情绪责任。舍曲林治疗，用于治疗包括焦虑和抑郁在内的精神疾病的药物，开始用药2周后导致神经行为障碍的解决。治疗过程表明，选择性5-羟色胺再摄取抑制剂，比如舍曲林,可能是治疗PS神经行为困难的有用工具，而不是伴有复杂副作用的抗精神病药，并表明焦虑是该患者神经行为困难的主要原因。
