Personality changes in sturge weber syndrome: beyond epilepsy, a clinical case

Sturge weber syndrome type 3 is a rare variant characterised by intracranial involvement without cutaneous marks or glaucoma, and is associated with the development of neurocognitive symptoms from infancy, the most common being intellectual disability and affective disorders. However, the progression of the intracranial involvement may also trigger personality changes.

To identify the development of neuropsychiatric symptoms in sturge weber syndrome, exploring whether the symptoms may suggest the concomitant onset of a mental disorder.

We present a clinical case and a narrative review of the literature focusing on the relationship between frontotemporal dysfunction and personality changes in structural epilepsy, based on systematic reviews and meta-analyses.

A 54 year-old man with structural epilepsy since infancy due to sturge-weber syndrome type 3, diagnosed 40 years later. He had a long history of psychiatric follow-up with multiple unclarified psychotic spectrum diagnoses. He was brought to accident and emergency against his will due to delusions of persecution (locking himself in his home, expelling his parents because he believed they belonged to a satanic cult), megalomania (military skills, high numerical abilities) and erotomania (his psychiatrist is in love with him and they have had sexual relations in the consultation room). During hospitalisation, rigid and perfectionist traits were noted, interfering with personal hygiene; inflexibility to changes in routine; uninhibited sexual behaviour with low impulsivity; and dramatic enactment of epileptic seizures when alone. His thinking was verbose, unstructured, rich in detail, devoid of emotional resonance, irrefutable and lacking in plausibility (fantastical pseudology). The wechsler adult intelligence scale ruled out intellectual disability but revealed poor working memory and slow processing speed. The brain magnetic resonance imaging revealed new right frontotemporal atrophy and increased atrophy and calcifications in the left frontal lobe compared with the previous performed 10 years ago, which had already confirmed the epileptic syndrome. From the outset, he received antipsychotic treatment with risperidone, which was switched to paliperidone at a dose of 9 mg/day, resulting in an improvement in impulsive behaviour and a reduction in delusional symptoms.

In light of current evidence, literature reviews indicate that not all forms of epilepsy have the same impact; there is a subgroup associated with the development of a predominantly personality disorder profile [1]. Furthermore, more recent reviews establish that acquired personality disorders are associated with damage to multiple sectors of the prefrontal cortex, which correlate with one another, with the clinical phenotype potentially varying according to the area most predominantly affected [2]. The present case, with progressive right and left frontal atrophy, exemplifies this association.

Despite the limited evidence, this case prompts us to consider that a delayed diagnosis of a neurological syndrome hinders the management and treatment of symptoms, and may lead to the overlooking of a psychiatric comorbidity. The challenge is even greater when the syndrome is a rare condition, as in our case, which underlines the importance of suspecting structural causes in atypical psychiatric presentations.

References

Viola V, Bisulli F, Cornaggia CM, Ferri L, Licchetta L, Muccioli L, et al. Personality disorders in people with epilepsy: a review. Front Psychiatry. 2024; 15:1404856. http://dx.doi.org/10.3389/fpsyt.2024.1404856.
Barrash J, Bruss J, Anderson SW, Kuceyeski A, Manzel K, Tranel D, et al. Lesions in different prefrontal sectors are associated with different types of acquired personality disturbances. Cortex. 2022;147:169–84. http://dx.doi.org/10.1016/j.cortex.2021.12.004