Hu Wandong, Zhao Fen, Ren Ying, Zhang Hongwei, Li Xiaoying
Epilepsy Center, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, China.
Department of Neonatal, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, Shandong, China.
Medicine (Baltimore). 2025 Jan 10;104(2):e41211. doi: 10.1097/MD.0000000000041211.
PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.
A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.
After ultrasonography ruled out abdominal organic lesions, electroencephalographic (EEG) identified abdominal pain was a seizure feature. Trio whole-exome sequence demonstrated a de novo and heterozygous PCDH19 missense mutation (NM_001184880: c.824A>G, P.Y275C), which was confirmed by Sanger sequence. The final diagnosis were "PCDH19-related epilepsy; abdominal pain."
At first, she was treated ineffectively by levetiracetam and valproate. Finally, she was provided with topiramate (TPM).
The patient had gained seizure-free, and the follow-up EEG discharges were reduced.
Abdominal pain is a rare autonomic symptom in the setting of seizures. This report describes abdominal pain as a novel manifestation of PCDH19-related epilepsy and might expand its phenotypes spectrum. It also alerts us to perceive the abdominal pain characterized by seizures and early conduct EEG examination to clarify the nature of abdominal pain.
与原钙黏蛋白19（PCDH19）相关的癫痫表现出多种临床特征，包括伴有或不伴有智力残疾的热性癫痫以及心理行为障碍。然而，很少有研究表明腹痛是首发症状。
一名3岁中国女孩出现对发热敏感的丛集性癫痫发作，并伴有腹痛。
超声检查排除腹部器质性病变后，脑电图（EEG）检查确定腹痛是一种癫痫特征。三联体全外显子测序显示存在一个新生杂合的PCDH19错义突变（NM_001184880:c.824A>G，P.Y275C），经桑格测序得以证实。最终诊断为“与PCDH19相关的癫痫；腹痛”。
起初，她使用左乙拉西坦和丙戊酸治疗无效。最后，为她使用了托吡酯（TPM）。
患者癫痫发作得到控制，随访脑电图放电减少。
腹痛是癫痫发作时一种罕见的自主神经症状。本报告将腹痛描述为与PCDH19相关癫痫的一种新表现，可能会扩大其表型谱。它还提醒我们要识别以癫痫发作为特征的腹痛，并尽早进行脑电图检查以明确腹痛的性质。
