Psychiatric features in gelastic epilepsy and hypothalamic hamartoma: long-term psychodiagnostic observations

Abstract

IntroductionHypothalamic hamartomas (HHs) are developmental, non-neoplastic malformations involving the small hypothalamicarea located between the infundibular stalk and the mam-illary bodies [1]. A spectrum of clinical conditions can beenvisaged: (A) early-onset of laughter epileptic seizures(gelastic seizures, GS) in previously normal childrenevolving toward catastrophic generalized epilepsy withcognitive regression and severe behavioral problems withor without precocious puberty; (B) GS evolving towardsevere focal epilepsy with cognitive and behavioral dis-turbances of various severity; (C) late infancy onset GSevolving toward severe focal epilepsy with little or withoutassociated cognitive and behavioral signs [1]. Cognitive [2]and behavioral [3–5] problems have been reported and theyseem to be responsive to surgical treatment [6]. Althoughseveral studies assessed a high prevalence of psychiatricdisorders among patients with HH [4, 6–8], rate andspecificity of psychiatric comorbidity are still debated. Themost frequent psychiatric diagnosis among adults with HHis major depressive disorder and anxiety disorder [6]. Onlya few cases of comorbidity with psychosis [4, 8] or severepersonality disorders [6] have been reported. We describethe longitudinal psychiatric and neurological history of apatient with GS-HH and psychosis.Case descriptionThis 24-year-old right-handed tertiary schooled man wasthe product of a normal pregnancy. GS appeared atapproximately 3 years of age with simple smiles. When thepatient was six he experienced weekly brief (\60) dys-cognitive seizures and rare tonic–clonic seizures. He wasrelatively well controlled with carbamazepine until the ageof 12 years, when he started to experience daily episodes offace flushing and loud laugh without mirth, lasting a fewseconds as well as occasional tonic–clonic seizures. At thatage, interictal EEGs showed mild slowing of backgroundactivity. Sleep EEG did not show evidence of disrupted orabnormal activity. Imaging studies revealed homoge-neously non-enhancing soft tissue mass in the region of theleft mammillary body, measuring 10 mm. Valproate(1,300 mg/day) and lamotrigine (150 mg/day) finally suc-ceeded to control his seizures. Accordingly, the patient didnot need surgical treatment of the lesion. At psychiatricinterview, the patient was shy and inhibited, with poor eyecontact and fatuous, unmotivated smiles. The patient dis-tinguished previously experimented GS and this kind ofsmiles. The patient also displayed formal disturbances ofthought, deficits at the exam of reality, paranoid symptomsand interpretative/projective tendency. However, no mis-perceptions were found. The presence of positive symp-toms (delusion, thought disorders), negative symptoms(social withdrawal) and behavioral anomalies (inadequatesmiles) allowed us to diagnose paranoid schizophrenia.