Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Siblings, one female and one male, were each born approximately 1 month prematurely and showed microcephalus, shortness, and short limbs plus a receding forehead and one peculiarly positioned small toe. Each failed to thrive, and neither made any developmental progress beyond the newborn status. Each exhibited a similar leukemoid reaction, and one died of respiratory infection at 3 months, the other of seizures and central nervous system infection at 5 months. At autopsy, each had a small brain, hydrocephalus, and bony anomaly of the cranium, the one of the posterior fossa and the other of the foramen magnum; in addition, one had absence of the corpus callosum. The long bones were considered atypical of chondrodystrophy. The combination of midly shortened bones of the extremities, moderately anomalous ribs, and slightly flattened vertebrae with microcrania does not resemble any of the previously recognized forms of short limbed dwarfism. We propose determination by a single, rare, autosomal recessive gene. The parents had greatly different ancestry and their apparent heterozygosity for such a gene made their mating particularly unusual.
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PMID:A new form of hereditary short limbed dwarfism with microcephalus. 113 58

The designation of "Infantile Bilateral Striatal Necrosis" (IBSN) was first given by Friede in 1975. However, this unusual condition was first described by Paterson and Carmichael in 1924. The disease is rare with uncertain etiology. The clinical picture includes choreoathetosis, abnormal eye movements, seizures and mental dullness. These circumstances often follow symptoms such as fever, vomiting and impaired consciousness. The final diagnosis is confirmed by pathological examination, which reveals symmetrical degeneration of bilateral basal ganglia. With present technology IBSN can be well demonstrated in the brain Ct scans or MRI scans nowadays. This article reports four cases with clinical manifestations which had appeared before the age of one year. Three cases had prodromal upper respiratory tract infection symptoms with vomiting, while seizure and impaired consciousness ensued. One case had several bouts of pneumonitis followed by seizures, impaired consciousness and abnormal eye movement. Brain sonogram of one of these cases showed hyper-echoic basal ganglia, while CT scans or MRI scans revealed symmetrical hypodensity or signal change over bilateral basal ganglia, respectively. All of these led to a bedridden life. These four cases are reported based on their clinical presentations and brain imaging findings, in spite of the absence of pathological confirmation. Some of the literature are also reviewed. To sum up, IBSN should be kept in mind in the differential diagnosis of symmetrical bilateral basal ganglia lesion after the exclusion of other disorders such as neurometabolic disorders, central nervous system infection, carbon monoxide intoxication, hypoxic-ischemic encephalopathy, tumors and cerebrovascular disorders etc.
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PMID:[Infantile bilateral necrosis of the striatum of corpus: report of four cases]. 151 18

Fifty-two patients at various stages of human immunodeficiency virus (HIV) infection who had one or several epileptic seizures in the course of that disease were retrospectively studied from 1985 to 1990. Thirty-five percent of these patients were in overt clinical AIDS at the time of the seizure(s). AIDS was revealed by a seizure in 2 cases. Generalized seizures were observed in 71 percent of the patients, and partial seizures in 29 percent. Electroencephalograms showed signs of brain irritation in only 19 percent of the cases. The cause of epileptic seizure(s) could be determined in 36 patients: cerebral toxoplasmosis in 23 cases; progressive multifocal leucoencephalitis in 2 cases; HIV encephalopathy in 3 cases; iatrogenic cause in 4 cases; meningoencephalitis in 3 cases and neurosyphilis in 1 case. No cause other than HIV infection was found in 16 patients. These findings confirm those of previous studies. In about one-third of AIDS patients epileptic seizures are the only clinical manifestation of viral central nervous system infection.
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PMID:[Epilepsy seizures in HIV infection. 52 cases]. 183 61

We compared the etiologic factors and clinical characteristics of 30 patients with unitemporal vs those of 30 patients with bitemporal independent (minimum 20% from one side) interictal epileptiform discharges on extracranial electroencephalograms. Febrile seizures occurred significantly more frequently in the unitemporal (40%) than in the bitemporal (17%) group. Mass lesions were more common in the bitemporal group, and seven of 10 patients with mass lesions showed bitemporal interictal epileptiform discharges. There were no statistically significant differences in age at onset, frequency of seizures, duration of epilepsy, and history of central nervous system infection or trauma between the two groups. A history of febrile seizures or central nervous system infection that may be expected to cause diffuse cerebral injury does not appear to be the major factor predisposing to the development of bitemporal interictal epileptiform discharges.
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PMID:Etiologic factors for unitemporal vs bitemporal epileptiform discharges. 184 24

Creatine kinase brain isoenzyme (CK-BB) was determined in cerebrospinal fluid of 150 neonates by a newly developed immunoenzymatic assay. Newborns with a documented neurologic disorder (intraventricular hemorrhage, postasphyxial encephalopathy, central nervous system infection, or persistent periventricular intraparenchymal echodensities) showed markedly higher concentrations of immunoreactive CK-BB than did the normal newborns or those with subarachnoid hemorrhage. In neonates with seizures the data suggest that the underlying neurologic disorder accounts for the higher CK-BB values and not the seizures per se. High concentrations of CK-BB in the neonatal period were followed by poor short-term outcome.
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PMID:Creatine kinase isoenzyme BB concentrations in the cerebrospinal fluid of newborns: relationship to short-term outcome. 195 38

As part of a study of status epilepticus in children (Maytal J, Shinnar S, Moshe SL, Alvarez LA. Pediatrics. 1989; 83:323-331); 44 children with febrile convulsions lasting more than 30 minutes were followed for a mean of 28 months (range 4 to 72). Thirty children were followed prospectively. Children with prior afebrile seizures or evidence of acute central nervous system infection were excluded. Nine (20%) children had prior neurological deficits. The duration of the febrile seizure was 0.5 to 1 hour in 41 cases (85%), 1 to 2 hours in 5 (10%), and greater than 2 hours in 2 children (5%). No child died or developed new neurological deficits following the seizures. The risk of recurrent seizures was increased, but only in the group with prior neurological abnormality. Six (66%) of these children had subsequent febrile seizures compared with 12 (34%) of the normal children (P = .08). Three (33%) had recurrent febrile status epilepticus compared with only 1 (3%) normal child (P = .023). The 2 children in the prospective arm of the study with recurrent febrile status epilepticus were both neurologically abnormal (P = .035). All 3 of the children who subsequently had afebrile seizures (2 prospective) were neurologically abnormal (P = .006 overall, P = .035 for prospective only). It is concluded that the occurrence of febrile status epilepticus in a neurologically impaired child is a risk factor for subsequent febrile as well as afebrile seizures. The occurrence of febrile status epilepticus in an otherwise normal child does not significantly increase the risk for subsequent febrile (brief or prolonged) or afebrile seizures in the first few years following the episode.
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PMID:Febrile status epilepticus. 221 31

Focal encephalopathy after cisplatin therapy, although described previously, is a rare adverse effect. Recently, four patients who received cisplatin therapy at our institution developed focal encephalopathy which manifested itself as cortical blindness, aphasia with seizures, aphasia with hemianopia and a focal seizure, respectively, shortly after the administration of cisplatin. Each episode occurred while the patients were febrile with neutropenia although no evidence of central nervous system infection was found. The neurological symptoms occurred after at least two courses of cisplatin therapy (minimum total cisplatin dose, 300 mg/m2) and three of the four patients also were noted to have hypomagnesaemia. In each case, the neurological deficit resolved and two patients received further cisplatin therapy without a recurrence of the neurological symptoms. Our experience suggests that focal encephalopathy that is associated with cisplatin therapy may resolve completely with supportive measures alone and need not preclude further therapy with cisplatin.
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PMID:Focal encephalopathy after cisplatin therapy. 246 46

A 34-year-old homosexual male developed cryptococcal meningitis as the initial manifestation of Acquired Immune Deficiency Syndrome (AIDS). With antifungal therapy he improved. Six weeks later he developed focal motor seizures and progressive hemiplegia. Computer assisted tomography revealed multiple, ring-enhancing, low density lesions. The patient expired and at necropsy he was found to have multiple toxoplasma brain abscesses as well as chronic cryptococcal meningitis. This case demonstrates that in a patient with AIDS with pre-existing central nervous system infection who develops new neurological symptoms the possibility of a second and potentially treatable infection must be considered and its diagnosis pursued vigorously.
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PMID:Cryptococcal meningitis and cerebral toxoplasmosis in a patient with acquired immune deficiency syndrome. 395 46

Because subdural empyema (SDE) is an unusual central nervous system infection, recognition is not always prompt. Consequently delays can allow a serious but curable infection to become irreparably damaging or even fatal. This condition, particularly in the early stages, is relatively easy to treat. Personal experience with six patients during the past 3 years promoted us to review the data from UCLA and its affiliated hospitals. Among the 23 cases of SDE reviewed, the predisposing factor in 16 was sinusitis, mastoiditis, or otitis media. The clinical presentation, encompassing a systemic febrile illness, headache, and neurological deficit, was monotonously uniform. The high incidence of paranasal sinus involvement in the adult, middle ear infections in infants, and seizures in 15 patients comprised further clinical clues suggesting the diagnosis. Although usually diagnosed as an intracranial inflammatory process, an initial failure to suspect a purulent collection in the subdural compartment was typical. Although the findings of definitive diagnostic studies (computed tomography or angiography) are strikingly positive in advanced cases, in the earlier stages of this disorder they may be subtly abnormal. Because the mortality and morbidity rates, in some measure, depend on the stage at which the process is arrested, the real challenge lies in making a prompt diagnosis. The most favorable results are associated with early, decisive surgical treatment.
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PMID:Subdural empyema--importance of early diagnosis. 744 93

The importance of the EEG for the investigation of neurological diseases in the neonatal period has been largely discussed, since it is often the only way to approach cerebral function in newborns with severe pathologies or under drug effect. The present study was carried out with 85 newborns (NB) who presented perinatal dysfunctions and were submitted to neurological and electroencephalogram (EEG) or polysomnography (PS) evaluation. EEG/PS alterations, pathologies and prognosis were reported. The EEG were classified according to basal activity alterations, presence of paroxysmal activity and sleep stages organization and maturity. The most frequent pathology was perinatal asphyxia (40%) followed by intraventricular hemorrhage (HIV, 16%). The most frequent complaint for exam indication was apnea (71%) followed by convulsion (19%). Fifty-five percent of the exams exclusively required because apnea complaint were considered normal and out of all exams required because seizures only 31% were normal. The EEG alteration most frequently related to perinatal asphyxia, HIV and intrauterine growth delay was immaturity and in the NB with seizures immature EEG and abnormal paroxysms. Many different alterations were registered in the NB with nervous system infection. The EEG findings more correlated with unfavorable prognosis were isoelectricity and abnormal paroxysmal activity including positive sharp waves (100%).
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PMID:[Value of EEG in the characterization and prognosis of neurological diseases in premature infants]. 858 21


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