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

The incidence of hypothalamic hamartomas (HHs) has increased since the introduction of magnetic resonance (MR) imaging. The etiology of this anomaly and the pathogenesis of its peculiar symptoms remain unclear, but recent electrophysiological, neuroimaging, and clinical studies have yielded important data. Categorizing HHs by the degree of hypothalamic involvement has contributed to the accurate prediction of their prognosis and to improved treatment strategies. Rather than undergoing corticectomy, HH patients with medically intractable seizures are now treated with surgery that targets the HH per se, e.g. HH removal, disconnection from the hypothalamus, stereotactic irradiation, and radiofrequency lesioning. Although surgical intervention carries risks, total eradication or disconnection of the lesion leads to cessation or reduction of seizures and improves the cognitive and behavioral status of these patients. Precocious puberty in HH patients is safely controlled by long-acting gonadotropin-releasing hormone agonists. The accumulation of knowledge regarding the pathogenesis of symptoms and the development of safe, effective treatment modalities may lead to earlier intervention in young HH patients and prevent the decline in their cognitive abilities and quality of life. This review of hypothalamic hamartomas presents current classifications, pathophysiologies, and treatment modalities.
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PMID:Hypothalamic hamartoma. 1591 61

The 1p36 deletion syndrome is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. We analyzed 11 patients by fluorescence in situ hybridization (FISH) using commercially available bacterial artificial chromosome and P1-derived artificial chromosome genomic clones to define the chromosomal deletion responsible for the 1p36 deletion syndrome. Cytogenetic investigation revealed two cases with a terminal deletion of 1p36. Nine patients had an apparently normal karyotype with standard G-bands by trypsin using Giemsa (GTG), but FISH screening with the highly polymorphic genetic marker D1Z2, which is mapped to 1p36.3 and contains an unusual reiterated 40-bp variable number tandem repeat, revealed a submicroscopic deletion. All patients had severe to profound mental retardation. Based on the University of California Santa Cruz Genome Browser, we constructed a deletion map and analyzed the relationship between neurological findings and chromosomal deletions for the 11 cases. Six cases had intractable epilepsy and three had no seizures. The common deletion interval was about 1 million base pairs (Mbp) located between RP11-82D16 and RP4-785P20 (Rho guanine exchange factor (GEF) 16). The severity of clinical symptoms correlates with the size of the deletion. This is demonstrated by the 3 patients with at least 8Mbp deletions that display profound mental retardation and congenital heart defects. Although haploinsufficiency of the potassium channel beta-subunit (KCNAB2) is thought to be responsible for intractable seizures in the 1p36 deletion syndrome, this was not the case for 3 of the 11 patients in this study. Further investigation of the 1p36 region is necessary to allow identification of genes responsible for the 1p36 deletion syndrome.
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PMID:Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. 1602 56

We retrospectively studied 5 children with hypothalamic hamartoma (HH) to elucidate the clinical, neuroimaging and electroencephalogram (EEG) characteristics of this disorder. In all cases, high resolution MRI scans demonstrated an intrahypothalamic mass protruding into the 3rd ventricle. An initial symptom was epileptic attack in 4 cases and precocious puberty in the remaining one. Gelastic seizures developed in 4 of 5 patients at ranging from 2 days to 11 years of age. The ictal EEGs during the gelastic seizures showed diffuse attenuation of background activity, followed by rhythmic slow discharges either diffusely or in the central area. Gamma-knife radiosurgery was performed on 2 cases whose seizures were resistant to available antiepileptic drugs. One of the 2 patients was responded significantly to this treatment, showing the disappearance of combined attacks and a marked reduction of the generalized spike-waves discharges. A more aggressive therapy, including gamma-knife radiosurgery and surgical treatment, should be considered for patients whose seizures are resistant to the medical treatment and causing deterioration of intelligence and behavioral problem.
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PMID:[Clinical and electroencephalogram study of 5 children with hypothalamic hamartoma]. 1616 44

Pseudohypoparathyroidism (PHP) is a rare inherited syndrome with several types. We reviewed the cases of 7 PHP patients seen between 1990 and 2003, and analyzed their clinical, biochemical data and long-term medical outcomes. Six boys and one girl were included. Two siblings showed Albright's hereditary osteodystrophy (AHO) and PHP Ia was impressed. The rest were suspected of PHP Ib. Their mean diagnosed age was 10.8 years and most had symptoms onset for several years before diagnosis. The most frequent initial presentations were seizure, followed by extremity muscle spasm, short stature, learning disability and psychomotor retardation. Mild thyrotropin elevation was noted in two patients of PHPIa. Early puberty onset, combined with bone age advancement was noted in the boy with PHP Ia, who had the shortest predicted adult height (PAH) (139.5 cm). The other 5 boys had normal PAH, mean 171.42 cm, and 4 male patients reached final height with a mean of 163.25 cm, close to their target heights. During treatment, 2 patients developed nephrocalcinosis. In conclusion, subtypes of PHP present heterogeneous phenotypes. Non-Ia subtypes might not be rare in Taiwan. Therefore, in hypocalcemic patients with mild high or normal parathyroid hormone (PTH), even in the absence of AHO, PHP should be ruled out. Regular renal sonography follow-up is recommended during therapy.
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PMID:Pseudohypoparathyroidism: report of seven cases. 1664 41

Gastroesophageal reflux disease can have variable manifestations including regurgitation, irritability, arching, choking, and apnea. The disorder is also frequently mistaken for seizures (Sandifer syndrome). We report 6 patients in whom the opposite phenomenon occurred: their seizures were mistaken for gastroesophageal reflux disease. Six of 77 patients (6.8%) with gelastic seizures and epilepsy symptomatic of hypothalamic hamartomas were noted to be misdiagnosed with gastroesophageal reflux disease in infancy. As is typical in these patients, gelastic seizures were not diagnosed until months, or often years, later. Delayed diagnosis of hypothalamic hamartomas can lead to a potentially deleterious syndrome involving refractory epilepsy, developmental problems, and precocious puberty. Gelastic seizures should be considered among the conditions that can mimic reflux symptoms.
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PMID:Gelastic seizures misdiagnosed as gastroesophageal reflux disease. 1747 90

Hypothalamic hamartoma (HH) is a congenital malformation of the hypothalamus that may be asymptomatic or manifest with precocious puberty or seizures. Gelastic seizures often begin early in life, even in the newborn period, being manifest by frequent attacks of inappropriate laughter resulting from seizure activity in the HH. The scalp electroencephalogram (EEG) is often normal in children with gelastic seizures, such that the diagnosis of epilepsy and the finding of a HH are often delayed. In a proportion of children with HH, there is an epileptic progression, in which complex partial seizures with frontal, temporal, and lateralized clinical features appear, usually with the appearance of focal slowing and epileptiform activity on the interictal EEG. Further progression may ensue with the appearance of tonic or atonic drop attacks, generalized tonic-clonic seizures, and epileptic spasms; rarely, infantile spasms may be the presenting seizure type. With the appearance of generalized seizures, the interictal EEG shows bilaterally synchronous and generalized epileptiform activity, often in abundance. The mechanism of this evolution is incompletely understood but neocortical seizure propagation and secondary epileptogenesis are believed to be important. Paralleling the development of the focal and generalized electroclinical manifestations in children with HH is usually slowing of development and the appearance of behavioral problems. Fortunately, many of these neurologic manifestations can be arrested, or reversed, with effective surgical treatment directed at the HH.
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PMID:Epilepsy in hypothalamic hamartoma: clinical and EEG features. 1754 48

Hypothalamic hamartoma (HH) syndrome comprises the clinical triad of epilepsy, developmental retardation, and central precocious puberty. A predominant opinion has been that the acquired cognitive and behavioral disorders observed in children with this syndrome are a direct effect of their seizure activity. A review of the recent literature suggests that this opinion needs to be revised because it is only partially supported by the data. The size of the HH and its anatomic attachment/location, in addition to the seizure history, appear to contribute to the cognitive and behavioral disturbances in children with HH. Small sample sizes and the inability to use standard neuropsychological testing scales in more severely affected HH patients complicate the study of causality. The present literature, however, suggests that multiple factors contribute to the cognitive and behavioral problems of these children.
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PMID:Cognitive and behavioral dysfunction in children with hypothalamic hamartoma and epilepsy. 1754 49

Hypothalamic hamartomas are relatively rare congenital tumors and present peculiar clinical symptoms such as convulsive and gelastic seizures, mental retardation, various abnormal behaviors as well as precocious puberty. We have treated 8 cases of symptomatic hypothalamic hamartomas with gamma knife surgery. There are 7 males and one female, ages ranging from 2 to 28 years (mean of 14.3 years). All the patients presented with convulsive and gelastic seizures, and some of them showed abnormal behavior and precocious puberty. At radiosurgery hypothalamic tumors, 8 to 22 mm in diameter (mean 13.5 mm), were treated with the mean maximum and marginal doses of 32.9 Gy and 18.5 Gy respectively. In general an entire tumor coverage was intended, but a few were partially covered, because of the tumor size as well as nearby sensitive structures like the optic nerve and the hypothalamus. With the mean follow-up of 53.7 months after the radiosurgery, generalized seizures were well controlled in 6 out of 8 cases, but gelastic seizures were not always controlled. In order to achieve an excellent seizure control and a favorable neurological outcome, a marginal dose of more than 18 Gy with total tumor coverage is definitely required. In conclusion, radiosurgery can play a role in treating hamartomas since neurological outcome and seizure control are apparently improved.
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PMID:[Radiosurgery of hypothalamic hamartomas]. 1834 Oct 11

Three siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inheritance is a possibility given that three siblings of both sexes are affected.
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PMID:A familial dysmorphic condition with hypotonia, seizures and precocious puberty. 1854 60

Gelastic seizures are epileptic events characterized by bouts of laughter. Laughter-like vocalization is usually combined with facial contraction in the form of a smile. Autonomic features such as flushing, tachycardia, and altered respiration are widely recognized. Conscious state may not be impaired, although this is often difficult to asses particularly in young children. Gelastic seizures have been associated classically to hypothalamic hamartomas, although different extrahypothalamic localizations have been described. Hypothalamic hamartomas are rare congenital lesions presenting with the classic triad of gelastic epilepsy, precocious puberty and developmental delay. The clinical course of patients with gelastic seizures associated with hypothalamic hamartomas is progressive, commencing with gelastic seizures in infancy, deteriorating into more complex seizure disorder resulting in intractable epilepsy. Electrophysiological, radiological, and pathophysiological studies have confirmed the intrinsic epileptogenicity of the hypothalamic hamartoma. Currently the most effective surgical approach is the trancallosal anterior interforniceal approach, however newer approaches including the endoscopic and other treatment such as radiosurgery and gamma knife have been used with success. This review focuses on the syndrome of gelastic seizures associated with hypothalamic hamartomas, but it also reviews other concepts such as status gelasticus and some aspects of gelastic seizures in other locations.
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PMID:Gelastic seizures associated with hypothalamic hamartomas. An update in the clinical presentation, diagnosis and treatment. 1933 48


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