Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0009952 (febrile convulsions)
 1,215 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of early epileptic encephalopathy (EIEE) with suppression-bursts or Ohtahara's syndrome, associated with focal cortical dysplasia is reported. Infantile spasms and brief tonic unilateral seizures began on the fifth day of life. Interictal EEG demonstrated an asymmetrical "suppression-burst" pattern with no wake or sleep cycling. Seizures were refractory to all antiepileptic drug (AED) and steroid therapy. Magnetic resonance imaging (MRI) showed right frontotemporal cortical thickening. After three weeks of an ineffective medical treatment a preoperative evaluation with single photon emission computed tomography (SPECT) and electrocorticography (ECoG) was performed to characterize epileptogenic focus. Surgical resection of the precentral area was performed at age 1 month. Neuropathologic examinations confirmed diagnosis of focal cortical dysplasia by identifying cytoarchitectural disarray and ectopic neurons located deep in subcortical white matter. During follow-up, 1-year postoperative the child had a single febrile seizure. Neurologic examination showed minor developmental delay and slight left-sided weakness.
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PMID:Surgical treatment of an early epileptic encephalopathy with suppression-bursts and focal cortical dysplasia. 800 6

We reported a case of 4-year-old boy with multiple vitamin deficiencies, especially vitamin B1 deficiency. He had megaduodenum associated with membranous stenosis on upper jejunum. He showed recurrent vomiting at his infantile period, and recently intermittent neurological symptoms. When he was admitted to our hospital, he could not walk and showed masked face, absent deep tendon reflexes, horizontal and vertical nystagmus, proximally dominant muscle weakness and multiple vitamin deficiencies. Oral administration of small doses of vitamin B1 (20 mg/day) could make remarkable clinical improvements. At three weeks after the treatment he could walk and run. Before the admission he had febrile convulsions and showed transiently striatal low density on CT image. We concluded that his neurological symptoms were due to vitamin B1 deficiency associated with megaduodenum. When a patient with intestinal anomaly shows neurological symptoms, we should think of vitamin deficiency.
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PMID:[A case with severe neurological involvement due to vitamin B1 deficiency associated with megaduodenum]. 846 Nov 66

We performed a prospective study of neuroimaging studies and temporal lobe pathology in 13 patients with facial asymmetry and intractable partial epilepsy of temporal lobe origin. The 13 patients, derived from 50 consecutive patients with nonlesional medically refractory partial epilepsy, were deemed appropriate candidates for an anterior temporal lobectomy. The facial weakness occurred exclusively, or was most prominent, during emotional expression, ie, spontaneous smiling. The temporal lobe of seizure origin, demonstrated by ictal long-term EEG monitoring, was always contralateral to the side of weakness. All 13 patients had a history of early childhood neurologic disease, eg, complex febrile seizure or bacterial meningitis. Hippocampal formation atrophy was present in all the epileptic temporal lobes by MRI-based volume studies. Twelve of the 13 patients subsequently received an anterior temporal lobectomy, and mesial temporal sclerosis was present in all the surgically excised temporal lobes. Ten of the 12 patients have been seizure-free during short-term follow-up. Facial asymmetry may occur in patients with partial epilepsy related to remote symptomatic seizures and mesial temporal sclerosis.
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PMID:Facial asymmetry, hippocampal pathology, and remote symptomatic seizures: a temporal lobe epileptic syndrome. 846 30

Clinically obvious reasons why children with neurological impairment (NMI) may be more severely affected in case of a viral respiratory tract infection include reduced vital capacity due to muscular weakness or spastic scoliosis, disturbed clearance of respiratory excretions (weak coughing and dysphagia), inability to comply actively with physiotherapeutic interventions, recurrent micro-aspirations (gastroesophageal reflux disease, vomiting related to coughing), a history of frequent exposure to antibiotics and health care institutions, colonization with resistant pathogens, impaired immunologic defence mechanisms due to severe malnutrition and cachexia, and early clinical deterioration in case of high fever with metabolic acidosis and hypercapnia, and maybe associated seizures or febrile convulsions.Data from the literature suggests that in all children with NMI, who have to be hospitalized with severe clinical deterioration due to an airway infection, at least one specimen of nasopharyngeal secretions should be sent as soon as possible to a virologic laboratory to detect viral pathogens. Children with severe NMI and those mechanically ventilated for other reasons being hospitalized during the RSV season must be strictly protected against nosocomial RSV infection by means of standard and droplet precautions. Finally, children with severe NMI and age below 24 months of life should receive passive immunization with palivizumab following international recommendations.
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PMID:Respiratory syncytial virus infection in children with neuromuscular impairment. 2226 88

Currently, there is no standardized approach to the management of complex febrile seizures in children and there are no published practice guidelines for the procurement of neuroimaging. Presented is a 2-year-old female patient who experienced a 3- to 5-minute episode of staring and unilateral mouth twitching associated with high fever. On initial presentation, the patient appeared well and had a normal neurological examination. No focus of infection was identified, and she was diagnosed with complex febrile seizure. The patient was discharged home with close neurology and primary care follow-up but returned the following day with altered mental status, toxic appearance, and right lower extremity weakness. Magnetic resonance imaging of the brain revealed left-sided cranial empyema and the patient was managed with antibiotics and surgical drainage. A literature review to answer the question "Do children with complex febrile seizures require emergent neuroimaging?" yielded a small number of retrospective reviews describing the utility of computed tomography, magnetic resonance imaging and lumbar puncture in the work-up of febrile seizures. Current evidence indicates that neuroimaging is not indicated in an otherwise healthy child who presents with complex febrile seizure if the patient is well appearing and has no evidence of focal neurological deficit on examination. As this case demonstrates, however, serious conditions such as meningitis and brain abscess (though rare) should be considered in the differential diagnosis of complex febrile seizure and physicians should remain aware that the need for neuroimaging and/or lumbar puncture may arise in the appropriate clinical setting.
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PMID:Cerebral Abscess Presenting as a Complex Febrile Seizure. 2615 51

Congenital Muscular Dystrophies (CMDs) can be considered as a heterogeneous group of diseases characterized by marked weakness, generalized hypotonia and joint contractures. They are divided into pure and classical forms, without ocular and cerebral involvement, and complex forms, which are associated with cerebral abnormalities. Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. The aim of our study was to evaluate the incidence of seizure in CMD. Herein, the authors describe 16 cases of congenital muscular dystrophy (CMD) associated with different kinds of epileptic events, in order to study the pathogenic connection between the two clinical manifestations. In all described patients we reviewed the clinical, neurophysiologic, and neuroimaging data to determine any associations with epilepsy. The patients were divided into two groups: 14 cases with merosin positive CMD in one group and 2 patients with Walker Warburg syndrome (WWS) in the second group. In our study we found that in the first group, one benign myoclonic epilepsy (BME), one benign febrile convulsions had occurred. Also in one patient, the EEG revealed a moderately high voltage slow background with diffuse sharp waves reaching 300mV in amplitude with no clinical signs. In the merosin positive CMD patients, the presence of two different epileptic diseases, benign myoclonic epilepsy (BME) in one and febrile convulsion with tonic clinic seizures, may represent a new expression of merosine-positive congenital muscular disease (PCMD) in which the deficiency of an undiscovered muscular protein with a cerebral isoform may be the cause of epileptic events in this group of patients.
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PMID:Congenital muscular dystrophy and epilepsy: a prospective case series of pediatric patients. 2807 77

Acute cerebellitis is a benign neurologic condition generally caused by viral or bacterial infections. Influenza associated cerebellitis is extremely rare; a 6-year-old boy with acute cerebellitis, who presented with fever, vomiting, weakness, febrile seizure, and acute cerebellar features, is discussed in this article.
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PMID:A Rare Cause of Childhood Cerebellitis-Influenza Infection: A Case Report and Systematic Review of Literature. 2952 76