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)

Epilepsy is more prevalent in developing countries than in developed countries. The high incidence is assumed to be associated with poor antenatal and maternal care, prematurity, birth injuries, childhood febrile convulsions, malnutrition, and infections. Accurate diagnostic equipment, such as the computerized axial tomography, is often beyond the reach of developing countries. The 7 drugs considered essential to the management of epilepsy are phenobarbitol; phenytoin; carbamazepine; ethosuximide; sodium valproate; and diazepam and clonazepam. Surgery is indicated in symptomatic epilepsy due to a local lesion, e.g., a neoplasm. In developing countries, superstition, cultural beliefs, and ignorance add to the social morbidity of the epileptic. Although epilepsy is a chronic condition which can seldom be cured, it can be controlled to the point where it becomes a minor inconvenience.
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PMID:Epilepsy in the developing countries. 46 51

The clinical characteristics of 303 patients who had episodes of feverish convulsions (FC) were retrospectively reviewed. No preference was seen for either sex (1.3/1). In 75.3% of the cases, the convulsions occurred in children under two. There was some predominance of tonic-clonic crisis and generalized clonic-tonic convulsions (85.5%) with 21.8% of complex partial crisis. In 44.8% of the cases a perinatal history of high risk was noted. A comparative investigation was carried out in a subgroup of 244 children in who FC vs non-febrile convulsions (NFC) were during two years. In 35.2% of the patients neurological abnormalities were found associated, among them were language difficulties (27.4%) and psychomotor retardation (11.9%). In 36.4% of the cases, the EEG was found to be abnormal, and paroxysmal in 27%. The predominating perinatal pathological complications were perinatal hypoxia-anoxia and prematurity. In 84% of the patients, anti-convulsive medication was administered. Of the 244 patients, 62 (25.4) of them had NFC which were directly related to the number of risk factors and their characteristics. Among those risk factors were partial convulsions, neurological deficit, abnormal EEG, convulsions lasting over 10 minutes and a previous family history of epilepsy. It is noteworthy that 15.7% of the patients had no risk factors related to epilepsy. In those patients who suffered from convulsions from an early age, who had convulsions of a partial--complex type, which lasted over 20 minutes and repeated frequently--were seen to be the most likely to develop epilepsy. The medications prescribed prevented the occurrence of the FC but did not significantly diminish the development of epilepsy. Febrile convulsions; epilepsy; perinatal.
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PMID:[Febrile convulsion. A clinical study of 303 patients]. 169 66

After carefully reviewing the epidemiological literature on this subject, we assessed the risk of febrile, isolated or epileptic convulsions in normal babies and infants with neonatal damage. We considered 417 term or preterm infants with birth injury and compared them with 400 healthy full-term newborns, all born between 1978 and 1980, studying each one individually until at least the age of 6 using the chi 2 test, the risk factors in relation to the convulsive outcome in all the groups were processed. We also calculated the relative risk of outcome of both febrile convulsions and epilepsy. Our results show that as far as the onset of seizure disorders in the term infant is concerned, the predisposing factors are asphyxia, neurological syndrome, and previous barbiturate intake. In contrast with this, for premature infants the risk factors are severe apnea and severe prematurity.
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PMID:The risk of convulsions: a longitudinal study of normal babies and infants with neonatal damage in the first 6 years of life. 222 75

An epidemiological community-based study of incident cases with non-provoked epileptic seizures, using case-referent methodology, was carried out to explore possible risk factors for epileptic seizures. 83 cases, between 17 and 74 years of age, of whom 67.4% had seizures of localized onset, were compared with 2 age- and sex-matched referents. Higher birth weight, movement disabilities, mental retardation, head trauma, brain tumor, depression, a period of unemployment during the previous 6 months and a history of epilepsy in relatives were more common in cases than in referent subjects. No difference was found in the socioeconomic factors investigated, except that the cases belonged to smaller households. Prematurity, home or hospital birth, parents' age at birth of cases or referents, febrile convulsions in relatives, various infections including meningitis and encephalitis, cerebrovascular disease, and alcohol, tobacco, sleep and nutritional habits were not found to be associated with development of seizures. The recent life events investigated, at home or at work, occurred as often in cases as in referents, except that significantly fewer cases had received any increase in salary during the last 6 months. The relationship between depression and development of seizures should be explored further. Moreover, the possibility of false negative results should be considered because of the sample size.
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PMID:An incident case-referent study of epileptic seizures in adults. 235 57

The study design was a case control study to identify the risk factors of febrile seizures. Total sample of 28 children, their ages ranging from 12 to 60 months, with febrile seizure were matched with control group of 60 children of the same age group with fever without seizure. The peak age of first febrile seizure was between 6 and 12 months. The significant risk factors were upper respiratory tract infection (p < 0.05), family history of febrile seizures (p < 0.0001). Prematurity (p < 0.005), problems during gestation (p < 0.005), family history of epilepsy (p < 0.005) and problem during labour (p < 0.0005).
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PMID:Risk factors of febrile seizures among preschool children in Alexandria. 1721 96

Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis. In this article, we present a 6-year-old boy who presented to us with ASD and was diagnosed with creatine transporter deficiency. Physical and neurologic examination of this patient had not previously raised suspicion of IEM, but twin pregnancy, prematurity, NICU stay due to necrotizing enterocolitis, transient infantile hypotonia, gross-motor delay, breath-holding spells, and a single febrile seizure complicated the history. MRI revealed mild T2-hyperintensity in posterior periventricular white matter. Further evaluation with magnetic resonance spectroscopy, which showed a decreased creatine peak, led to diagnostic investigations for disorders of creatine metabolism, revealing increased urinary creatine:creatinine ratio and a de novo, novel hemizygous frameshift variant in SLC6A8 Clinicians are advised to maintain a high index of suspicion for IEM and to evaluate patients with ASD for syndromic features. Although current guidelines from relevant organizations differ in their recommendations regarding the necessity and the extent of metabolic screening in ASD, there is a growing trend toward screening for treatable IEM. In this case report, we present challenges and pitfalls in the diagnostic journey for creatine transporter deficiency and underline the significance of a thorough history and physical examination in the evaluation of a child with ASD.
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PMID:Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder. 3309 39