Abstract Details

Title Seizures Secondary to Intracranial Anomalies Leading to Hemorrhage with a PCDH19 Mutation

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P10 - Poster Session 10 (8:00 AM-9:00 AM)

Poster/Presentation
Number 10-002

Objective To highlight a rare case of refractory epilepsy (RE) with intraparenchymal hemorrhage (IPH) secondary to a dural venous anomaly (DVA), a variant of uncertain significance (VUS) in the PCDH19 gene, and posterior pial angiomatosis/Sturge-Weber syndrome (SWS).

Background SWS is a neurocutaneous syndrome which can manifest as facial and leptomeningeal angioma (Type-1), facial angioma (Type-2), or brain vasculature abnormalities without cutaneous manifestations (Type-3). SWS is linked to somatic mutations in the GNAQ gene and frequently results in developmental delay and RE. PCDH19 mutations clinically impact females and can result in intellectual disability and RE.

Design/Methods NA

Results 51-day-old full-term developmentally normal female presented with poor intake, back arching, leftward-gaze deviation, and shaking all extremities. CTH revealed right basal ganglia and thalamic IPH with ventricular extension. MRA revealed a prominent cluster of vessels adjacent to the IPH communicating with the right thalamostriate vein. Cerebral angiography was unremarkable. EEG demonstrated seizures from the right posterior quadrant (RPQ) which were treated with Levetiracetam. Neurosurgery placed an EVD to manage hydrocephalus. Patient was re-admitted for EVD complications and increased seizures, prompting the addition of Lacosamide. Genetic testing identified a VUS in PCDH19 with unclear clinical significance as the semiology was unusual for PCDH19 epilepsy. At 6 months, patient was re-admitted for seizure concerns. EEG confirmed focal seizures originating from the RPQ. Shunt artifact obscured RPQ so her shunt was moved to the contralateral side. Subsequent MRI revealed calcifications in the RPQ consistent with findings of SWS. With ongoing seizures, surgical disconnection of the RPQ was planned. In the OR, the right parieto-occipital region showed diffuse small vessels on the cortical surface, running down into the sulci and abnormal gliotic cortex. Post-operatively, she remains seizure-free.

Conclusions This rare case presentation with multiple potential causes of epilepsy (PCDH19 vs SWS vs IPH) emphasizes the importance of clinical acumen and multidisciplinary care.

Authors/Disclosures
Julianna Penetar, DO PRESENTER	Ms. Penetar has nothing to disclose.
Krima Patel, DO (St. Luke's Anderson Campus GME Office)	Dr. Patel has nothing to disclose.
Sonia S. Varandani, MD	Dr. Varandani has nothing to disclose.
Marvin Braun, MD, PhD (Geisinger Medical Center)	Dr. Braun has nothing to disclose.

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