Abdominal pain as a novel manifestation in children with PCDH19-related epilepsy: A case report

Rationale: 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.

Patient concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.

Diagnoses: 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."

Interventions: At first, she was treated ineffectively by levetiracetam and valproate. Finally, she was provided with topiramate (TPM).

Outcomes: The patient had gained seizure-free, and the follow-up EEG discharges were reduced.

Lessons: 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.