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Background <p>Epilepsy affects over 50 million people worldwide, and approximately 30% of cases are treatment-resistant. Neuromodulatory therapies such as vagus nerve stimulation (VNS) and deep brain stimulation (DBS) of the anterior thalamic nuclei can reduce seizure frequency in these patients but carry risks to behavior and mood. Balanced X-autosome translocations, including t(14;X), have been implicated in intellectual disability and epilepsy and represent a rare potential genetic contributor to treatment-resistant epilepsy. We report a case that illustrates both the psychiatric risks of DBS and the possible genetic basis of refractory epilepsy.</p> Case presentation <p>We present the case of a white American woman in her 30&#xa0;s with treatment-resistant epilepsy (TRE), psychogenic non-epileptic seizures, intellectual disability, psychosis, and a maternally inherited balanced t(14;X)(q32.3;p11.2) translocation. Her mother also carries the same translocation and has a history of refractory epilepsy, psychosis, and cutaneous telangiectasias. Despite multiple antiepileptic drugs, vagus nerve stimulation, and deep brain stimulation (DBS) of the anterior thalamic nuclei, she continues to experience daily seizures. DBS implantation led to approximately 20% seizure reduction but was complicated by worsening behavioral disturbances, consistent with reported psychiatric side effects and the phenomenon of forced normalization.</p> Conclusions <p>This case highlights the complex interplay between epilepsy, psychiatric comorbidities, and neurostimulation, as well as the potential genetic underpinnings of TRE. The association of balanced X-autosome translocations with intellectual disability and epilepsy suggests pathogenic disruption of neurodevelopmental genes influencing inhibitory signaling. Awareness of psychiatric risks in DBS recipients and consideration of genetic etiologies are essential for optimizing management strategies in refractory epilepsy.</p>

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Medically refractory epilepsy comorbid with psychogenic non-epileptic seizures and intellectual disability in a patient with balanced t(14;X) translocation: a case report

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  • 发表日期：

    2026年7月31日

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  • Henry Y. Feng,
  • Ping Li

摘要

Background

Epilepsy affects over 50 million people worldwide, and approximately 30% of cases are treatment-resistant. Neuromodulatory therapies such as vagus nerve stimulation (VNS) and deep brain stimulation (DBS) of the anterior thalamic nuclei can reduce seizure frequency in these patients but carry risks to behavior and mood. Balanced X-autosome translocations, including t(14;X), have been implicated in intellectual disability and epilepsy and represent a rare potential genetic contributor to treatment-resistant epilepsy. We report a case that illustrates both the psychiatric risks of DBS and the possible genetic basis of refractory epilepsy.

Case presentation

We present the case of a white American woman in her 30 s with treatment-resistant epilepsy (TRE), psychogenic non-epileptic seizures, intellectual disability, psychosis, and a maternally inherited balanced t(14;X)(q32.3;p11.2) translocation. Her mother also carries the same translocation and has a history of refractory epilepsy, psychosis, and cutaneous telangiectasias. Despite multiple antiepileptic drugs, vagus nerve stimulation, and deep brain stimulation (DBS) of the anterior thalamic nuclei, she continues to experience daily seizures. DBS implantation led to approximately 20% seizure reduction but was complicated by worsening behavioral disturbances, consistent with reported psychiatric side effects and the phenomenon of forced normalization.

Conclusions

This case highlights the complex interplay between epilepsy, psychiatric comorbidities, and neurostimulation, as well as the potential genetic underpinnings of TRE. The association of balanced X-autosome translocations with intellectual disability and epilepsy suggests pathogenic disruption of neurodevelopmental genes influencing inhibitory signaling. Awareness of psychiatric risks in DBS recipients and consideration of genetic etiologies are essential for optimizing management strategies in refractory epilepsy.