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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Childhood epileptic syndrome characterized by early onset gelastic seizures, hypothalamic hamartoma and precocious puberty is well recognized though rare. We report association of agenesis of corpus callosum, Dandy-Walker complex and heterotopic gray matter with this childhood epileptic syndrome which is hitherto an unreported association. The child showed a satisfactory response to gonadotropin releasing hormone agonist.
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PMID:Hypothalamic hamartoma, gelastic epilepsy, precocious puberty--a diffuse cerebral dysgenesis. 1245 4

Hypothalamic hamartoma is a non-neoplastic tumor manifesting as gelastic seizure, precocious puberty, and abnormal behavior. Treatment of it is very complicated due to its location. We report a case of hypothalamic hamartoma treated by neuroendoscopic surgery and stereotactic radiosurgery. A 5-year-old girl presented with violent behavior, precocious puberty, gelastic seizure and atonic seizure. She was diagnosed with hypothalamic hamartoma by CT and magnetic resonance imaging at 11 months of age. Tumor size did not change, but tumor intensity had changed on the MR image at 5 years of age. Magnetic resonance spectroscopy revealed decreased N-acetylaspartate and increased choline and creatine in the tumor. After neuroendoscopic biopsy, she underwent linear accelerator stereotactic radiosurgery. But her symptoms remained unchanged for 6 months. She then underwent partial resection and laser coagulation of the tumor by a neuroendoscopic approach. After the procedure, the frequency of her seizures was remarkably decreased, and her violent behavior improved. The transventricular neuroendoscopic approach to the hypothalamus is less invasive than the radical surgery. Neuroendoscopic surgery can be one of the treatments of choice for hypothalamic hamartoma.
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PMID:Treatments of hamartoma with neuroendoscopic surgery and stereotactic radiosurgery: a case report. 1249 60

Hypothalamic hamartomas are associated with precocious puberty and gelastic epilepsy. The seizures are often refractory to antiepileptic medications. The treatment of hamartoma is not well established. We report a 3-year-6-month-old boy was admitted because of intractable seizures occurring several times a day. The findings on magnetic resonance imaging and his characteristic seizure led to the diagnosis of hypothalamic hamartoma. The seizures were resistant to multiple antiepileptic drugs, and persisted for about 3 years, during which his cognition deteriorated. Focal radiosurgery by a gamma knife of the hamartoma successfully controlled the seizures with no neurological complications, and his mental function improved.
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PMID:[A case of hypothalamic hamartoma with refractory seizures: successful treatment with gamma knife surgery]. 1260 94

A series of 17 patients aged from 9 months to 32 years with refractory epilepsy due to hypothalamic hamartoma were treated by total removal (one case) and disconnection (16 cases) between 1997 and 2002. The mean age at seizure onset was 16 months. Sixteen patients had gelastic seizures, 14 had partial seizures and three had generalized tonic-clonic seizures. The mean seizure frequency was 21 per day. Four patients had borderline intelligence quotient and the others were mentally retarded. Five patients presented with precocious puberty, one with acromegaly, and four suffered from obesity. Brain magnetic resonance imaging, performed at least twice in each patient, showed the hamartoma as a stable homogeneous interpeduncular mass implanted either on the mammilary tubercle or on the wall of the third ventricle with variable extension to the bottom. Ictal single photon emission computed tomography, performed in four patients, showed hyperperfusion within the hamartoma in two patients. Twenty-five operations were performed in the 17 patients. The first patient underwent total removal of the hamartoma, whereas the following 16 patients underwent disconnection through open surgery (14 procedures) and/or endoscopy (9 procedures). Eight patients became seizure-free, one patient had only brief gelastic seizures, and eight patients were dramatically improved with a mean follow up of 18.6 months (8 days to 43 months). Surgery was safe in all but two patients: the first patient had transient hemiplegia and the third cranial nerve paresis, and the other developed hemiplegia due to ischemia of the middle cerebral artery territory. The quality of life, and behavior and school performance were greatly improved in most patients. Our series illustrates the feasibility and relative safety of disconnection surgery for hypothalamic hamartomas with seizure relief in 53% of patients and dramatic improvement in the others. Surgical observations led us to propose a new anatomical classification according to the anatomical relationship between the hamartoma and the adjacent hypothalamus and third ventricle. Endoscopic disconnection seems to be a very safe way to treat hamartomas in intraventricular locations.
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PMID:Disconnecting surgical treatment of hypothalamic hamartoma in children and adults with refractory epilepsy and proposal of a new classification. 1262 81

Hypothalamic hamartomas constitute rare developmental lesions associated with gelastic epilepsy and/or precocious puberty (PP). We elected to review cases encountered at our center (7 patients) and the existing literature (277 patients) to obtain a better understanding of the clinical aspects, pathogenesis, and treatment of this entity. Evidence suggests that gelastic seizures are due to intrinsic epileptogenicity. The cause of the subsequent development of other seizure types, cognitive decline, and diffuse spike-and-wave pattern remains unresolved and is addressed. Anticonvulsants often fail to control seizures and different surgical options are available. Available evidence suggests that a resection through a subtemporal approach is best for lesions that are pedunculated or with a significant prepontine component, while a transcallosal approach is more appropriate for sessile lesions with an intraventricular component. Gamma knife surgery may be especially useful for small sessile lesions, failed partial resections, or patients not appropriate or refusing open surgery.
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PMID:Hypothalamic hamartomas: seven cases and review of the literature. 1279 26

The pathogenesis of central precocious puberty (PP) and/or gelastic seizures due to a hypothalamic hamartoma (HH) is still under debate. We evaluated the association of clinical symptoms with morphology and localization of the HH in 34 patients. The majority (86.4%) of HHs in patients with isolated PP (n = 22; 68.2% females) revealed a parahypothalamic position without affecting the third ventricle (91%). Half of them were pedunculated, and 40.9% showed a diameter less than 10 mm. In contrast, 11 of 12 patients with seizures, eight of whom were male, presented with a sessile intrahypothalamic hamartoma, 10 of which distorted the third ventricle. Logistic regression analysis revealed an increased relative risk (RR) for epilepsy in males (RR, 4.3; 95% confidence interval, 0.96-19). However, combination of the risk factor gender with intrahypothalamic position (RR, 19; 1.3-285) and distortion of the third ventricle (RR, 10; 0.6-164) reduced the risk associated with male gender to 1.1. The position of a HH and involvement of the third ventricle are likely to be more predictive for clinical characteristics than size and shape. Male gender was associated with an intrahypothalamic HH and epilepsy, suggesting a sexually dimorphic developmental pattern of this heterotopic mass.
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PMID:Association of morphological characteristics with precocious puberty and/or gelastic seizures in hypothalamic hamartoma. 1455 27

The progresses of neuroimaging have allowed an earlier detection of hypothalamic hamartoma in children presenting with gelastic or dacrystic seizures. Associated symptoms can include other types of seizures, precocious puberty, and behavioral or cognitive deterioration. Combination of all these features is not constant and, when present, their evolution may be variable. When epilepsy proves intractable, surgery may be a solution but is not without risks. Therefore, it can only be justified on the basis of a considerable degree of certainty on the progressive character of the disorder, both in terms of epilepsy and global development. Even though epilepsy is a major and usually the most important problem, it is not always possible to predict its course and to be able to evaluate its potential effects on development. Available data suggests that deterioration is partly related to the epileptogenic activity. We reviewed data from 16 personal cases and discussed the possible evolutions of the epilepsy syndrome on the basis of 6 illustrative cases and a review of the literature. We point out that seizures may start early in life and evolve either towards a catastrophic encephalopathy or may be transiently severe and will progressively settle down. Intermediate situations also exist as well as cases presenting with a mild epilepsy. In almost all cases cognitive difficulties are present and may be associated with behavioral disturbances. They are of variable severity, usually in relation to the severity of the epilepsy and the evolution of the EEG abnormalities. Some of our cases also illustrate that, in young children whose seizures are limited to "a sensation of a pleasant feeling", "a pressure to laugh" or "smiling", early detection of the hamartoma may still be difficult and the epilepsy pattern may be misdiagnosed as an epilepsy temporal or frontal origin. Detailed analysis of the electro-clinical evolution of representative cases highlights the variable expression of the epilepsy syndrome and renders difficult any dogmatic position on early surgery. However, recent data suggests that a surgical solution must be sought early. Prospective studies are needed to evaluate, not only outcome in terms of control the seizures without unacceptable side effects but also on the evolution of the cognitive and behavioral profile of children with HH and epilepsy are needed.
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PMID:Hypothalamic hamartoma and epilepsy in children: illustrative cases of possible evolutions. 1497 87

Hypothalamic hamartoma presents with precocious puberty, epilepsy or both. There are two epileptic syndromes, one presenting initially in infancy with gelastic seizures evolving rapidly into a syndrome with multiple seizures, developmental delay and a moderate to severe behaviour disorder. The other presents later with a milder epileptic syndrome, again usually including gelastic seizures, but with normal intellect and behaviour. Magnetic resonance imaging identifies and gives a detailed anatomical picture of these lesions. Direct surgery, using microsurgical techniques and neuronavigation guidance has been used for these lesions. Three surgical approaches have been used, one lateral pterional, another midline frontal through the lamina terminalis and a third is a transcallosal interforniceal approach. In addition a disconnection procedure, usually pterional, aims to disconnect the lesion without the risks of major resection. The transcallosal interforniceal approach is the most successful with 69% of patients seizure-free. There are complications in about 24% of patients, the same as other approaches, but the complications are milder and include fewer neurological deficits than the other routes. Alternate strategies include stereotactic radiosurgery and radiofrequency ablation under stereotactic control.
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PMID:Resective surgery for hypothalamic hamartoma. 2470 77

We describe two cases of hypothalamic hamartoma associated with arachnoid cysts. One case was initially documented on prenatal MR images. Because of the rarity of the association and resultant distortion in regional anatomy, the solid component of the mass may be overlooked. This would certainly be true when using lower-resolution diagnostic studies such as fetal MR imaging. The lesion could also be confused with a cystic tumor such as pilocytic astrocytoma. Thorough evaluation is required in patients with precocious puberty, gelastic seizures, and the presence of a suprasellar arachnoid cyst.
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PMID:Pre- and postnatal MR imaging of hypothalamic hamartomas associated with arachnoid cysts. 1531 25

We report the case of a woman presenting with unusual, symptomatic epilepsy related to a hypothalamic hamartoma, in the absence of mental retardation or precocious puberty. The seizures manifested themselves clinically as characteristic, paroxysmal movement disorders, such as choreic/ballistic movement. This type of phenomenon is rarely of epileptic origin: we thus suggest that the movement disorder observed here could be due to functional disorganization of the basal ganglia network by the epileptic discharge, causing loss of the inhibition of thalamic activity and thus allowing the occurrence of abnormal movements.
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PMID:Ictal movement disorders and hypothalamic hamartoma. 1574 Nov 40


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