Coexistence of epilepsy with eyelid myoclonia, schizoaffective disorder, and cavum septi pellucidi et vergae: A case report

Abstract

We report the first case of a 14-year-old boy presenting with the rare co-occurrence of cavum septi pellucidi et vergae (CSPV), epilepsy with eyelid myoclonia (EEM), and schizoaffective disorder (SAD). The patient initially presented with a one-month history of abnormal eye movements, including continuous blinking and upward rolling of the eyeballs, which occurred predominantly at night. There was no alteration in consciousness. A detailed history revealed that the patient had experienced mood disturbances, delusional beliefs, auditory and visual hallucinations, and significant behavioral dysregulation for one year. These symptoms had been partially managed with haloperidol. Magnetic resonance imaging (MRI) confirmed the presence of CSPV. At the same time, electroencephalography (EEG) during intermittent photic stimulation demonstrated brief generalized epileptiform discharges triggered by eye closure, consistent with a diagnosis of EEM. The simultaneous presence of psychotic and affective symptoms met the diagnostic criteria for SAD. The patient was treated with sodium valproate in addition to his existing low-dose haloperidol regimen. This led to the complete resolution of seizures and psycho-affective symptoms at one- and three-month follow-ups. However, a decline in academic performance was noted at the one-year follow-up. In resource-limited settings without access to genetic or autoimmune tests, care was guided by practical adaptations rather than standard protocols. This case highlights a potential neurodevelopmental link between CSPV and epileptic and psychiatric manifestations, underscores the value of neuroimaging and EEG in pediatric neuropsychiatric overlap, and calls for research into mechanisms connecting midline brain anomalies with complex neuropsychiatric disorders.

Keywords: Eyelid Myoclonia Epilepsy (EEM); Neurodevelopmental anomaly; Neuropsychiatric comorbidity.

Fig. 1

Brain MRI showing midline structural abnormalities. Axial T1 (a and b) images from the same patient demonstrate the cavum septi pellucidi and the cavum vergae. (a) The white open arrow indicates the cavum septi pellucidi, and the solid white arrow denotes the cavum vergae.

Fig. 2

This EEG segment was recorded interictally during photic stimulation at 6 Hz (a) and eye closure (b). Left hemisphere channels are shown in blue, and right hemisphere channels are shown in black. The pink trace highlights the C3–A1 channel, distinguishing it from the overlapping electrode above. The background activity is organized and symmetrical, with a posterior dominant (alpha) rhythm. Notably, sharp waves, spikes, and polyspikes were observed, particularly in the frontal and central regions (Fp1–A1, Fp2–A2, F3–A1, F4–A2, C3–A1, C4–A2). Occipital leads exhibit a normal photic driving response without epileptiform activity. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)