Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epileptic seizures associated with hamartoma of the floor of the fourth ventricle (HFFV) are generally resistant to antiepileptic medication, may evolve into status epilepticus, and can respond favorably to surgical therapy. HFFV are rare, and during the neonatal or infantile period may be associated with repetitive and stereotyped attacks of hemifacial spasm, eye blinking, facial movements, head deviation and dysautonomic manifestations. Similarly, to gelastic seizures provoked by hypothalamic hamartomas, it has been suggested that these spells arise from within the HFFV, thus constituting a type of non-cortical seizure. We report an infant female patient that developed continuous left hemifacial attacks since she was 2-month-old, and that underwent presurgical investigation when she was 18-month-old. MRI disclosed a left sided HFFV, Video-EEG showed non-localizing and non-lateralizing findings, and SPECT aligned with MRI showed marked hyperperfusion within the hamartoma, spreading to ipsilateral cerebellar parenchyma and brainstem nuclei. Patient underwent lesionectomy and became seizure-free. We found two evidences on literature supporting the hypothesis of non-cortical seizures related to HFFV. The first, intra-cerebellar recordings surrounding hamartoma showed electrical activity related to seizures. The second, subtracted SPECT co-registered MRI showed hyperemia within hamartoma. The present report provides the third additional evidence. We found the involvement not only of the hamartoma, and pars of cerebellar hemisphere, but also an intense hyperemia involving brainstem nuclei during seizures. We believe that all these findings suggest a short subcortical network responsible for generating seizures in HFFV patients.
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PMID:Pontine activation during focal status epilepticus secondary to hamartoma of the floor of the fourth ventricle. 1637 33

We report the case of a 3-year-old boy with status gelasticus symptomatic to a giant hypothalamic hamartoma despite two previous hypothalamic hamartoma surgeries using pterional approaches from each side. Following his third resection employing an endoscopic, transventricular approach, he has been seizure free for 6 months with significant cognitive, behavioral, and electroencephalographic improvement. This case reinforces the importance of surgery for a form of status epilepticus and in addition that repeat (three) surgeries can be successful, indeed life changing. The optimal surgical approaches and management plan for hypothalamic hamartoma surgery-including subtemporal, subfrontal, transcallosal, and endoscopic approaches-are discussed, including how these treatment decisions have evolved as a result of our large series experience.
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PMID:Successful third surgery for a case of status gelasticus: lessons learned after nearly 200 cases of hypothalamic hamartoma surgical resection. 2121

A 4-week-old infant presented with hemifacial spasms noticed from the 4th day after delivery. These progressed in severity, with generalization every 3-4 h. On admission, the infant went into refractory status epilepticus and had to be electively ventilated and taken for surgery on a semi-emergency basis. MRI showed a fourth ventricular hamartoma and video EEG showed spikes that were synchronous with the facial 'twitches' with generalization. Following the first surgery, the infant had an initial complete recovery, but developed recurrence of facial twitches after 2 weeks. Repeat MRI showed a small residual tumor which was re-operated and completely excised (at 8 weeks). Following this, the patient had complete recovery from seizures (5-year follow-up). This is the youngest patient reported presenting with status epilepticus with a fourth ventricular hamartoma operated successfully.
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PMID:Fourth ventricular hamartoma presenting with status epilepticus treated with emergency surgery in an infant. 2204 63