Gelastic epilepsy and hypothalamic hamartomas: neuroanatomical analysis of brain lesions in 100 patients

Abstract

Hypothalamic hamartomas present with isolated fits of ictal laughter (gelastic epilepsy) or a combination of gelastic and other types of seizures. Many of these patients also suffer from cognitive decline, neuropsychiatric comorbidities and precocious puberty. Although there is a large body of anecdotal evidence about hypothalamic hamartomas and gelastic seizures, many questions still remain to be answered. For instance, which specific hypothalamic regions are most affected by the location of hamartomas causing laughing versus other types of seizures? Does the neuroanatomical localization of the lesions differ in cases with only gelastic seizures or a combination of gelastic and other types of seizures? Does the location of the lesions correlate with the presence of precocious puberty, and does the type of lesion influence the severity or the type of seizures? In a retrospective review of clinical and structural neuroimaging data from 100 cases of gelastic epilepsy and hypothalamic hamartoma, we aimed to address these questions by analysing the clinical presentation and the neuroanatomical features of the hypothalamic lesions in these patients. Our findings suggest that in all 100 cases, lesions were centred at the level of the mammillary bodies in the posterior hypothalamus. Compared with the patients with pure gelastic seizures (n = 32), those with gelastic and other types of seizures (n = 68) had significantly longer duration of epilepsy (P < 0.001), whereas age of seizure onset, the volume of lesions and the proximity to the mammillary bodies were not different between the two groups. In contrast, patients with cognitive or developmental impairment and those with precocious puberty had significantly larger lesions involving the anterior and posterior hypothalamus.

MRI-guided stereotactic radiofrequency thermocoagulation for 100 hypothalamic hamartomas

“…18 Our SRT procedure had no effect on precocious puberty. In addition, some patients experienced delayed precocious puberty after SRT.…”

“…20 The lower rate of freedom from non-gelastic seizures in adult patients is likely because non-gelastic seizures are caused by independent secondary epileptogenesis. Parvizi et al 18 also reported that patients with non-gelastic seizures were significantly older and had significantly longer duration of epilepsy than patients with only GS. Therefore, early surgery is important for the prevention of independent secondary epileptogenesis.…”

“…Although Parvizi et al 18 previously reported a neuroanatomical analysis of 100 HH lesions in terms of seizures and comorbidities, to our knowledge, this is the first report on seizure outcomes after a single surgical procedure applied to a large number of HH cases from a single institution.…”

Formas de presentación clínica del hamartoma hipotalámico

“…La prevalencia es de 1-2 casos/100.000 habitantes. Los HH pueden ser pedunculados, habitualmente asociados a pubertad precoz central [1][2][3] , o sésiles, relacionados con epilepsia con crisis gelásticas de difícil control 1-3 . Presentamos 4 casos de HH, 3 niños comenzaron como pubertad precoz y otro con crisis parciales complejas y crisis gelásticas.…”

“…Existen varios estudios que demuestran la eficacia de la radiocirugía estereotáctica (cirugía con gamma-knife) con resultados similares a la cirugía convencional con disminución de la morbimortalidad 1,6 , con el inconveniente de que su efecto se evidencia más tardía-mente (6 meses tras la intervención), siendo necesarias en ocasiones varias sesiones para conseguir adecuado control clínico. 3 …”