PDF(Pubmed)
Abstract：
Schimmelpenning-Feuerstein-Mims syndrome is a rare disorder generally characterised by a craniofacial nevus with multisystemic presentations. Our patient, an infant, was brought to the emergency department in a postictal state following a first seizure episode. A physical examination showed a solitary dark brown, well-demarcated verrucous plaque extending from the patient\'s left temporal region to the left mandible without crossing the midline. Epibulbar choristomas were present on the ipsilateral side of the craniofacial lesion. Neuroimaging showed benign enlargement of the subarachnoid space. Due to the known risk of seizures associated with this condition, the patient was started on levetiracetam and showed adequate compliance. We present this as the first reported case of Schimmelpenning-Feuerstein-Mims syndrome with benign enlargement of the subarachnoid space in an infant presenting with seizures to emphasise the value of collaboration among multidisciplinary professionals to improve the quality of care for such patients.
摘要：
Schimmelpenning-Feuerstein-Mims综合征是一种罕见的疾病，通常以具有多系统表现的颅面痣为特征。我们的病人,一个婴儿,在第一次癫痫发作后，被带到急诊室。体格检查显示一个孤独的深棕色，从患者的左颞区延伸至左下颌骨，但未穿过中线。颅面病变的同侧存在球膜脉络膜瘤。神经影像学显示蛛网膜下腔良性增大。由于已知与这种情况相关的癫痫发作风险，患者开始服用左乙拉西坦,并表现出足够的依从性.我们介绍这是第一例Schimmelpenning-Feuerstein-Mims综合征，在癫痫发作的婴儿中蛛网膜下腔良性扩大，以强调多学科专业人员之间合作的价值，以提高此类患者的护理质量。
