Hypothalamic hamartoma with gelastic seizures: a case report

Hypothalamic Hamartoma (HH) may have diverse clinical manifestations. Its hallmark association is with gelastic seizures. Gelastic epilepsy is characterized by episodes of loud, hollow, mirthless, stereo-typed, forced laughter. The patient may stare and giggle briefly without any other motor manifestations. Hypothalamic hamartoma is most often the cause of gelastic seizures. Here, authors report a case of gelastic seizure with hypothalamic hamartoma in a 14-month-old boy with an associated tonic clonic seizure.' This case highlights the possibility of underdiagnosed hypothalamic hamartoma in younger age groups among pediatric population.

Episodes of prolonged “trance-like state” in an infant with hypothalamic hamartoma

Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although both manifestations coexist in the majority of the children. Gelastic seizures (GS), or laughing spells, are usually the first type of seizures seen in patients with HH. Although a wide variety of seizure types are known to occur in children with HH, GS are most common and consistent seizure type. The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both CPP and seizures. Although CPP can be managed with medical therapy, seizures can be very difficult to treat, even with multiple antiepileptic drugs. Noninvasive gamma knife surgery has been used with some success for the treatment of refractory epilepsy. We present a case of HH with very early onset seizures and CPP. The patient had an atypical form of seizures described by the parents as a "trance-like state" in which the patient had prolonged episodes of unresponsiveness lasting for hours with normal feedings during the episodes. GS occurred late in the course and were refractory to various combinations of antiepileptic drugs. A brain magnetic resonance imaging showed a large sessile HH (>20 mm). Later in the course of the disease, the patient experienced cognitive and behavioural problems. The patient underwent gamma knife surgery at nearly 5 years of age and experienced a modest response in seizure frequency. This case highlights the presentation of HH as a previously unreported seizure morphology described as a prolonged "trance-like state."

Challenges in the surgical treatment of epilepsy: hypothalamic hamartoma in infancy - case report / Desafios no tratamento cirúrgico das epilepsias: hamartoma hipotalâmico na infância - relato de caso

INTRODUCTION: Hypothalamic hamartoma is a rare congenital malformation, characterized by epilepsy, especially gelastic seizures, psychomotor developmental delay, mental retardation, behavioral disorders and precocious puberty. Epilepsy has early onset and is usually medically refractory. Etiology and pathophysiological mechanisms are unclear. The EEG can present disorganization and slowing of background activity and multifocal and/or generalized epileptogenic discharges. OBJECTIVE: To report the difficulties and challenges of neurosurgical treatment of a hypothalamic hamartoma in an infant. CASE REPORT: Infant with seizures since eight months old of age. The neurological investigation revealed a lesion in tuber cinereum suggestive of hamartoma. The epilepsy evolved with resistance to antiepileptic drugs, requiring neurosurgical procedure. The endoscopic resection could not be performed because the hamartoma was firmly attached to the hypothalamus. Currently, the child remains with tonic, clonic and atonic seizures. DISCUSSION: Lesionectomy performed by microsurgery or radiosurgery seems to be the most effective treatment for seizure control in patients with hypothalamic hamartomas who do not respond to clinical treatment. Callosotomy may be effective in selected cases, and lobectomy/cortical resections are not related to seizure control. In some patients, particularly in infants, lesionectomy and radiosurgery may be technically unfeasible.

INTRODUÇÃO: hamartoma hipotalâmico é uma malformação congênita rara, que pode se manifestar através de crises epilépticas, principalmente as gelásticas, atraso do desenvolvimento neuropsicomotor, retardo mental, distúrbios comportamentais e puberdade precoce. As crises têm início precoce e são clinicamente refratárias. A etiologia e os mecanismos fisiopatogênicos não são totalmente conhecidos. O eletrencefalograma pode apresentar desde desorganização e alentecimento da atividade de base até paroxismos epileptogênicos multifocais e/ou generalizados. OBJETIVO: relatar as dificuldades e desafios do tratamento neurocirúrgico em um caso de hamartoma hipotalâmico em um lactente. RELATO DO CASO: lactente com crises epilépticas desde oito meses de idade. A investigação revelou a presença de uma lesão em túber cinerium sugestiva de hamartoma. As crises tornaram-se refratárias, sendo indicado procedimento cirúrgico. A ressecção endoscópica não pôde ser realizada, pois o hamartoma encontrava-se totalmente aderido ao hipotálamo. Atualmente, a criança mantém crises tônicas, clônicas e atônicas. DISCUSSÃO: a lesionectomia realizada por microcirurgia ou radiocirurgia parece ser o tratamento mais efetivo para o controle das crises em pacientes com hamartoma hipotalâmico. Calosotomia pode ser eficaz em casos selecionados e lobectomias/ressecções corticais não tem efetividade no controle das crises. Em alguns pacientes, particularmente nos lactentes, lesionectomia e radiocirurgia podem ser tecnicamente inviáveis. Quando o tratamento neurocirúrgico não é possível a epilepsia deve ser classificada como intratável.

Gelastic Seizures in a Patient with Tuberous Sclerosis / 대한간질학회지

BACKGROUND: Gelastic seizures are characterized by ictal inappropriate sudden laughter as the predominant seizure manifestation. they are very rare and may occur in patients with hypothalamic hamartomas, pituitary tumors, astrocytomas of the mamillary bodies, CNS infection, trauma, and dysraphic condition. CASE: A 21-year-old woman with tuberous sclerosis was admitted due to frequent sudden inappropriate laughter as a seizure manifestation. EEG showed paroxysmal brief generalized 4-5 Hz spike and wave complexes. Brain MRI revealed multiple tubers in the bilateral cerebral cortical areas, right caudate nucleus, and left anterior cingulate gyrus. We tried vigabatrin, but gelastic seizures were not controlled. COMMENT: We report a case of gelastic seizures associated with tuberous sclerosis, which has not previously been reported in Korea.

Cryptogenic Gelastic Seizures from Medial Frontal Area: 2 Cases

Little has been known about what pathways subserve mirth and its expression laughter. We report two patients with cryptogenic gelastic seizures who provide some insight into the mechanisms of laughter. Invasive video-EEG monitoring showed ictal onset zone to be either in the left or right medial frontal cortex. After resection of the medial frontal area, including the epileptogenic focus, patients have been in gelastic seizure-free state. This suggests the possibility that medial frontal cortex is involved in the motor act of laughter.