Abstracts

Rationale: KABUKI syndrome is caused by mutation in KMT2D  (type 1) or KDM6A (type 2). The major clinical features include characteristic facial features, visceral malformations, short stature, abnormal dermatoglyphic patterns and intellectual disability. Although it is associated with numerous neurological complications including epilepsy, hallucinations have not been reported. Here, we report a case of psychosis with hallucinations in a patient with Kabuki syndrome and frontal lobe seizures. Methods: A 21 year old female with clinical features of Kabuki syndrome was positive for KMT2D mutation. At 17 years old, she began experiencing auditory hallucinations characterized by voices. She progressed to also experiencing vivid visual hallucinations, such as seeing frightening people. At 19 years old, she started experiencing frontal lobe seizures, characterized by stiffening of the right arm and leg, which within 2 months evolved into generalized tonic-clonic seizures. Hypermotor seizures with left frontal lobe focal onset were confirmed by intensive video EEG monitoring in July 2017.  No epileptiform abnormalities were captured on the EEG during the patient’s hallucinations. Results: Risperidone, quetiapine and divalproex provided a limited effect on hallucinations. When topiramate was added, her hallucinations resolved although seizures persisted. Her seizures were eventually controlled with brivaracetam, topiramate, eslicarbazepine, and the Modified Atkins Diet (2:1 ratio). The patient was initiated on the ketogenic diet at a 4:1 ratio, but required a 2:1 ratio to maintain seizure control. Conclusions: This case highlights the potential psychiatric complications of Kabuki syndrome that occurred independently of epilepsy. This is also the first case of seizures in Kabuki syndrome treated with the Modified Atkins Diet. Funding: None