• Wandong Hu, Fen Zhao, Ying Ren, Hongwei Zhang, and Xiaoying Li.
• Epilepsy Center, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, China.
• Medicine (Baltimore). 2025 Jan 10; 104 (2): e41211e41211.

RationalePCDH19-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.Patient ConcernsA 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.DiagnosesAfter 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."InterventionsAt first, she was treated ineffectively by levetiracetam and valproate. Finally, she was provided with topiramate (TPM).OutcomesThe patient had gained seizure-free, and the follow-up EEG discharges were reduced.LessonsAbdominal 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.Copyright © 2025 the Author(s). Published by Wolters Kluwer Health, Inc.

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