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)

A retrospective analysis of children with renal failure during the first year of life revealed that 20 of 23 patients developed profound neurologic abnormalities. The encephalopathy was characterized by developmental delay, microcephaly, hypotonia, seizures, dyskinesia, and EEG abnormalities. No patient had been dialyzed, and four had not received aluminum salts prior to the development of neurologic symptoms. Inadequate statural growth and poor nutrition were present in all patients. It is probable that infants with chronic renal insufficiency are more susceptible to the development of this syndrome than are older children or adults because of the significant growth and maturation of the brain that occurs during the first years of life.
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PMID:Progressive encephalopathy in children with chronic renal insufficiency in infancy. 708 84

A nine-week-old Caucasian male presented with right ptosis and right exotropia due to a third cranial nerve palsy. Symmetrical macular lesions and a paramacular hyperpigmented lesion with overlying vitreous cells in the left eye were compatible with congenital toxoplasmosis. Computer tomography demonstrated calcifications in the periventricular and midbrain regions where the oculomotor nerve exits the brainstem. The diagnosis was confirmed by the toxoplasma indirect fluorescent antibody titer greater than 1:2048 for the infant and greater than 1:512 for the mother. Treatment was instituted with pyrimethamine, sulfadiazine and folinic acid. Neurologic sequelae included a right hemiparesis, infantile seizures, and generalized developmental delay. A Mueller's muscle resection (RUL) combined with 9-mm recession of the right lateral rectus and 7-mm resection of the right medial rectus muscles produced minimal ptosis and right exotropia one year later. the child now prefers to fix with the right eye and a vertical nystagmus is evident in the left eye. To our knowledge this is the first reported case of an infant with noncomitant strabismus due to congenital toxoplasma cranial nerve involvement. The finding of an acquired third cranial nerve palsy accompanied by progressive neurologic sequelae warrants consideration of congenital toxoplasmosis.
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PMID:Congenital toxoplasmosis associated with acquired oculomotor nerve (CN III) palsy. 717 24

A child had neonatal polycythemia, severe seizures beginning at 6 weeks of age, and a computerized tomography scan showing multiple cerebral infarcts. Follow-up showed substantial developmental delay with spastic quadriplegia. This case illustrates that neonatal polycythemia is a rare but preventable cause of multiple cerebral infarctions, subsequent seizures, and developmental delay.
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PMID:Neonatal polycythemia causing multiple cerebral infarcts. 735 2

We reviewed 3,436 EEGs and found 24 patients with periodic lateralized epileptiform discharges (PLEDS). The etiology was unknown in 7, cerebrovascular occlusion in 7, tumor in 3, intracerebral hematoma in 2, and subdural hematoma, neonatal asphyxia, electrolyte imbalance, subarachnoid hemorrhage, and hypoglycemia in each of the remaining cases. We were successful in contacting 18 patients and/or their families for follow-up. Twenty of the 24 patients with PLEDS had seizures. Seven had focal motor alone, 10 had focal motor with secondary generalization, and 3 had generalized seizures without any observed focal features. Four patients had no seizures. Twelve patients had their first seizure at the time PLEDS were found. Fifteen adults and 3 infants were reevaluated. Only 1 adult was functionally independent. The 3 infants evidenced developmental delay. Six adults had seizures prior to observation of PLEDS, and 5 (83%) of them reported seizures after hospitalization. Nine of the 15 adults had their first seizure associated with PLEDS, 6 of whom (67%) also reported seizures after hospitalization. In 9 patients with serial EEGs during their hospitalization, PLEDS disappeared within 22 days. We concluded that most patients with PLEDS and concomitant seizures continue having seizures after hospitalization and need antiepileptic medication.
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PMID:Seizure disorders following periodic lateralized epileptiform discharges. 743 32

Sleep disorders were investigated in 40 children with tuberous sclerosis (TS) and compared with those found in non-disabled children and those reported in a mixed group with learning disabilities. Significantly higher levels of sleep disturbance were found in the TS group compared with both other groups. Within the TS group, current epilepsy and a high level of daytime behavioural disturbance were significantly associated with sleep disturbance, but pervasive developmental delay and high parental stress levels were not. Detailed study of the relationship between seizure activity and sleep disturbance in tuberous sclerosis is needed.
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PMID:Sleep disorder and epilepsy in children with tuberous sclerosis: a questionnaire-based study. 751 Jun 55

D-2-Hydroxyglutaric aciduria was documented in a newborn who presented with seizures, hypotonia, cortical blindness, a movement disorder, and developmental delay. Her clinical presentation differs from that of patients with L-2-hydroxyglutaric aciduria and a single previously reported patient with D-2-hydroxyglutaric aciduria. Cerebrospinal fluid levels of gamma-aminobutyric acid were elevated, while biogenic amine metabolites were normal. The movement disorder in our patient and in those with L-2-hydroxyglutaric aciduria suggests involvement of the basal ganglia in the disease process. Prenatal diagnosis of an affected fetus was accomplished during a subsequent pregnancy.
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PMID:D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. 751 41

The role of hemispherectomy in treating holohemispheric hemimegaloencephaly, a unilateral brain malformation, is still not well defined. The authors describe the cases of five infants presenting with intractable seizures, progressive neurological deficits, and severe developmental delay. Electroencephalography (EEG) showed generalized polyspikes from the megaloencephalic hemisphere and progressive slowing on the opposite side in all children; contralateral seizure spikes occurred in three children. Three of the five children underwent hemispherectomy for intractable seizures before 2 years of age, after which the seizures subsided completely in two children and improved remarkably in the third. Preoperative Wada testing proved useful in evaluating pharmacologically the effect of hemispherectomy on contralateral polyspikes. Postoperative EEG revealed the absence of polyspikes in the operated hemisphere and decreased slowing on the contralateral side. Psychomotor development in the surgically treated infants exceeded that of the children not undergoing hemispherectomy. Of the two children treated medically, one died at 4 years of age in status epilepticus and the other (now 5 years old) has frequent seizures and severe developmental delay. Based on these results, hemispherectomy appears to be a useful procedure for controlling seizures and improving psychomotor development in children with hemimegaloencephaly involving the entire hemisphere. Surgery in infancy can prevent or minimize seizure foci and encephalopathic changes that may develop in the contralateral hemisphere. Staging the procedure and exercising meticulous hemostasis make surgery relatively safe in infants who otherwise may have significant blood loss associated with increased blood flow to the megaloencephalic hemisphere.
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PMID:The role of hemispherectomy in the treatment of holohemispheric hemimegaloencephaly. 751 55

The prevalence of risk and adverse factors associated with fine motor disorder (n = 35) were compared with gross motor deficit (n = 158), global developmental delay (n = 336), and combined fine and gross motor deficit among 1,241 children up to 3 years of age identified in the Haifa health district. A significantly increased preponderance of males was observed among the study group as compared to the group with gross motor deficit. Intranatal problems were significantly increased among children with fine motor deficits as compared to those with gross motor deficits as were minor physical anomalies, seizures, and behavioral deficits. Less significant differences were observed between the study group and children with global developmental delay or fine and gross motor deficit. The different risk factor profiles indicated that the children with fine motor deficits constituted an etiologically distinct group highly associated with early antepartum, possibly genetic, origins.
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PMID:Fine motor deficit: an etiologically distinct entity. 752 Feb 42

We review 160 cases of gliomatosis cerebri from the literature and report an additional three infants and young children who presented with intractable epilepsy, corticospinal tract deficits, and developmental delay in whom a pathologic diagnosis was made. The progressive nature of the encephalopathy in our cases was documented by serial clinical examination, electroencephalograms, magnetic resonance imaging, and positron emission tomographic scans. The natural history of gliomatosis cerebri was determined by a retrospective review of the literature of 160 cases in 85 reports. The most common neurologic symptoms and signs included corticospinal tract deficits (58%), dementia/mental retardation (44%), headache (39%), seizures (38%), cranioneuropathies (37%), increased intracranial pressure (34%), and spinocerebellar deficits (33%). The most commonly involved central nervous system structures were the centrum semiovale and cerebrum (76%), mesencephalon (52%), pons (52%), thalamus (43%), basal ganglia (34%), and the cerebellum (29%). Fifty-two percent of patients were dead within 12 months of onset. Different grades of glial neoplasm may also coexist within gliomatosis cerebri such as astrocytoma with anaplastic astrocytoma, atypical or anaplastic oligodendroglioma, and glioblastoma multiforme. Hypotheses regarding the pathogenesis of gliomatosis cerebri include blastomatous dysgenesis, diffuse infiltration, multicentric origin, in situ proliferation, and "field transformation." The biologic determinants of whether a transformed glial cell behaves as a relatively localized tumor mass or truly loses anchorage dependence to become migratory as well as proliferative are not understood.
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PMID:Gliomatosis cerebri presenting as intractable epilepsy during early childhood. 753 65

Clinical, neuropathological and molecular genetic studies in a 9 month old boy with Pelizaeus-Merzbacher disease are described. The principal clinical features were developmental delay, nystagmus, stridor and seizures. Both brain and spinal cord showed almost complete absence of stainable central myelin, while cranial and spinal root myelin was preserved. Probes for cDNA in the boy and his asymptomatic mother indicated an increase in the dosage of proteolipid protein gene (of at least twofold) compared with controls.
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PMID:A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. 754


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