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

In 1926, Foix, Chavany and Marie described an acquired syndrome of fasciopharyngoglossomasticatory diplegia resulting from bilateral infarction of the anterior operculum. Clinical features consisted of facial diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and seizures. A developmental form, similar in presentation in adults with MRI findings consisting of bilateral perisylvian cortical malformation consistent with polymicrogyria involving the sylvian fissure and opercular cortex, has been recognized; but few pediatric cases of congenital bilateral perisylvian syndrome (CBPS) have been reported. Over the past four years, we have encountered 12 cases of CBPS presenting in childhood. Age ranges were from 1 week to 11 years with a median of 2.25 years; six were less than two years of age. Seven were male and five female. Ten had bilateral perisylvian polymicrogyria on MRI; two had unilateral perisylvian schizencephaly with contralateral perisylvian polymicrogyria. Clinical manifestations included developmental delay in 7; poor palatal function in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea in 3; paraparesis in 2; micrognathia in 2; pectus excavatum in 2; quadriparesis in 1; and hearing loss in 1. Seizures occurred in seven (58%) and consisted of infantile spasms (n = 1), generalized tonic-clonic (n = 1), complex partial (n = 2), partial motor (n = 2; 1 with secondary generalization), and febrile convulsions (n = 1). CBPS has different manifestations in the pediatric population than in adults. CBPS is more common than previously thought, is recognizable by MRI and should be suspected clinically in any infant or child presenting with oromotor dysfunction/pseudobulbar signs and developmental delay, especially if there are associated congenital malformations. Epilepsy is not a constant feature in the pediatric presentation and is variable in type and severity.
 ...
PMID:Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients. 930 9

Congenital bilateral perisylvian syndrome (CBPS) is a recently described, neuronal migration disorder, characterized by pseudobulbar palsy, epilepsy and mental retardation and bilateral perisylvian dysplasia. A 15-year-old boy was diagnosed with CBPS according to the typical clinical, and magnetic resonance imaging (MRI) features. The patient was suffering from atypical absence seizures, repeating daily in spite of antiepileptic drug therapy, since age 7 years. He had also experienced rare generalized tonic-clonic seizures and complex partial seizures. Neurological examination showed severe restriction of tongue movements, severe dysarthria, dysphagia, facial diplegia, mild pyramidal signs and moderate mental retardation. A computed tomographic (CT) scan demonstrated bilateral perisylvian enlargement. The diagnosis was corrected with MRI after six years. Frequent irregular generalized spike and wave abnormalities and focal sharp and slow waves over the posterior regions of both hemispheres were shown by electroencephalograms (EEG). The patient was treated with Na-Valproate, carbamazepine and lamotrigine but did now show any significant change in seizure frequency in the eight-year follow-up period. Intractable seizures, mental retardation and particularly congenital pseudobulbar palsy suggest this congenital entity. Those patients who exhibit these typically clinical features, must have MRI.
Seizure 1997 Dec
PMID:A clinically recognizable neuronal migration disorder: congenital bilateral perisylvian syndrome. Case report with long-term clinical and EEG follow-up. 953 Sep 47

Sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usually single, brief body jerks that coincide with sleep onset. We describe sleep starts occurring repetitively in three epileptic children with spastic-dystonic diplegia and mental retardation. Repetitive sleep starts began at age 18 months in two children and at 9 months in the third. All three children had had feto-neonatal asphyxia; two presented with spastic and one with dystonic tetraparesis. One had West syndrome and two had partial motor seizures in the first year of life. Seizures were controlled in all three patients by antiepileptic drug therapy. Video/EEG recordings of all the children during the afternoon nap revealed clusters of sleep starts during the transition between wakefulness and sleep. Cluster lasted 4-15 min and comprised from twenty to twenty-nine contractions. The EEG counterpart of the event sometimes showed an arousal response, at times inducing complete awakening. Repetitive sleep starts should be recognized and clearly differentiated from epileptic seizures, especially if they appear in epileptic subjects. In neurologically compromised patients, they could represent an intensification of an otherwise normal event, due to the lack of strong inhibitory influence of the pyramidal tract resulting from the pyramidal lesion.
 ...
PMID:Repetitive sleep starts in neurologically impaired children: an unusual non-epileptic manifestation in otherwise epileptic subjects. 1093 35

This article deals with the clinical profile of children with cerebral palsy and epilepsy, and to study the clinical predictors of response to anti-epileptic drugs. It is a prospective hospital based follow-up study. All the children who presented with cerebral palsy and history of seizure (other than neonatal seizures) over a period of one year were included. Seizures were classified according to ILAE classification. An EEG was obtained in all cases. Neuroimaging was done in all patients. Eighty-five patients were studied and followed for minimum of 12 months. Perinatal factors accounted for 62 (72.3%) cases. The motor deficits seen were quadriparesis (n = 64), hemiplegia (n = 12) and diplegia (n = 9). Associated mental retardation was seen in 80.9% patients with quadriparesis. A predominance of generalised epilepsy was seen with generalised tonic clonic seizures (32.9%) followed by mycolonic seizures (30.6%) and localisation related epilepsy (24.7%). The patients with quadriparesis were more likely to have generalised epilepsy and 52.4% of them required two or more anti-epileptic drugs for control of seizures. Patients with hemiplegia had localisation related epilepsy in 83.3% of cases. On multivariate analysis presence of quadriparesis, microcephaly, mental retardation and myoclonic epilepsy were found to predict the poor response to AED. Epilepsy in patients with cerebral palsy is of severe nature and difficult to control. Presence of quadriparesis, mental retardation and myoclonic seizures was predictive of poor response to anti- epileptic drugs.
 ...
PMID:Epilepsy in children with cerebral palsy. 1128 76

Primary varicella-zoster infection is very common during childhood and few patients develop complications. The most frequent complications are bacterial infection of the lesions, laryngitis and varicella pneumonia. In the nervous system it can produce encephalitis and especially cerebellitis. We describe a case of primary varicella-zoster induced rhabdomyolysis in a 5-year-old girl with mental retardation, microcephalia and mild diplegia who, in the context of varicella infection, presented extreme muscular weakness and prostration. Blood and urine tests showed high creatine phosphokinase concentrations and myoglobinuria. The patient received aggressive intravenous hydration. Evolution was favorable with no renal failure. Rhabdomyolysis can produce life-threatening complications such as renal failure, intravascular disseminated coagulation and hyperkaliemia. The disease can be precipitated by alcohol ingestion, compression injury and generalized seizures. Infectious etiology is less common. Few reports have been published on primary varicella-zoster induced rhabdomyolysis but, because creatine phosphokinase concentrations are not routinely performed in varicella infection, very mild cases might have been under-diagnosed. Despite its rarity, this disease should be considered in cases of infection, since early treatment with hyperhydration can prevent complications.
 ...
PMID:[Varicella induced rhabdomyolysis]. 1157 48

Cystic periventricular leukomalacia refers to necrosis of the white matter in a characteristic distribution dorsal and lateral to the external angles of the lateral ventricles in preterm infants. The pathogenesis includes either hypoxic-ischaemic lesions resulting from impaired perfusion at the vascular border zones or the role of intra-amniotic infection with toxic effects of endotoxins and cytokines on oligodendrocytes. This overview illustrates the pathogenic theories, risk factors, diagnosis by cranial ultrasonography, and the actual classification. Cystic periventricular leukomalacia is the most severe and frequent cause of cerebral palsy in preterm infants and is almost constantly associated with serious subsequent neuromotor impairments such as diplegia or tetraplegia. Dependant on site and extension of the cysts additionally visual impairments, seizure disorders, hearing impairments, mental retardation, and microcephaly are observed.
 ...
PMID:[Cystic periventricular leukencephalomalacia]. 1186 81

Combined methylmalonicaciduria and homocystinuria is a disorder of intracellular cobalamin metabolism that remains a challenge to the physician unfamiliar with the diagnosis. We have followed six patients with combined methylmalonicaciduria and homocystinuria (four males, two females, age 4.2-24 years) for a median of 6.5 years (range 4-9 years). Age at diagnosis was between 18 days and 14 months in early-onset cases (n = 4) and 15 and 19 years in late-onset cases. Predominant clinical features include microcephaly, hydrocephalus, seizures, and white-matter changes on magnetic resonance imaging in early-onset cases. The white-matter changes may be secondary to impaired methylation owing to a lack of readily available methyl groups. Spastic quadriparesis and diplegia are long-term sequelae in late-onset cases. Management consists of hydroxycobalamin intramuscular injections, oral folate, betaine, and carnitine supplementation. Dietary protein restriction may be necessary when metabolic control remains difficult. The implementation of an emergency regimen should alleviate episodes of metabolic decompensation and reduce the rate of hospital admissions.
 ...
PMID:Practical management of combined methylmalonicaciduria and homocystinuria. 1215 May 82

To study the spectrum of epilepsy in children with cerebral palsy, 105 consecutive children with cerebral palsy and active epilepsy, between 1 and 14 years of age, were studied prospectively. A detailed history and examination, electroencephalography (EEG), and computed tomography (CT) were done in all cases. The social quotient was assessed using the Vineland Social Maturity Scale. A retrospective cohort of 452 cases of cerebral palsy was studied to find the prevalence of epilepsy in cerebral palsy. A control group of 60 age-matched children with cerebral palsy but no epilepsy was also studied for comparison of the social quotient. Of the 105 children, 65 were male, 40 of 105 (38%) had a history of birth asphyxia. The mean age of onset of seizures was 18.9 months; 64 (60.95%) had seizure onset before 1 year of age. Children with myoclonic seizures (P < .05) and infantile spasms (P < .01) had seizure onset significantly early in life. Generalized seizures were the most common, followed by partial seizures, infantile spasms, and other myoclonic seizures. Seizures were controlled in 45 (58.1%) children, and polytherapy was required in 40 children. EEG and CT abnormalities were seen in 70.5% and 61% of the children. Seizure control was achieved in 74% of the patients with a normal to borderline social quotient compared with 48.7% with a social quotient less than 70. Social quotient values had a positive correlation with age of onset of seizures (P < .01) and with better control of seizures (P < .01). Of the cohort of 452 children, 160 (35.4%) had epilepsy. The maximum incidence (66%) was seen in children with spastic hemiplegia, followed by quadriplegia (42.6%) and diplegia (15.8%). Epilepsy in cerebral palsy is seen in about one third of cases; it is often severe and difficult to control particularly in children with mental retardation.
 ...
PMID:Epilepsy in children with cerebral palsy. 1273 42

Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder characterised by pseudobulbar palsy, cognitive deficits and epilepsy associated with bilateral perisylvian cortical dysplasia on neuroimaging studies. We report a long-term follow-up of a 18-years girl diagnosed with CBPS according to the typical clinical and magnetic resonance imaging (MRI) features. The patient showed faciopharyngoglossomasticatory diplegia, severe dysarthria, ataxia, spastic quadriparesis and severe mental retardation. Brain MRI evidenced bilateral perisylvian cortical dysplasia. Since early life she suffered from complex febrile seizures and epilepsy consisting of complex partial attacks with affective manifestations associated with centro-temporal EEG abnormalities. During 18 years of follow-up she was treated with phenobarbital, carbamazepine, lamotrigine, gabapentin but did not show any significant clinical improvement. Subsequently, monotherapy with phenytoin (PHT) was followed by a significant clinical improvement. At age 17, because of adverse effects, PHT was gradually substituted by topiramate (TPM). Full control of seizures was obtained at the age of 17 years with TPM. EEG abnormalities throughout the years have been reduced according to the clinical course. These findings emphasised the importance of long-term follow-up, suggesting that the prognosis for epilepsy may not be predicted based on the early response to treatment or on the presence of structural encephalic abnormalities, as reported in the literature.
 ...
PMID:Congenital bilateral perisylvian syndrome with partial epilepsy. Case report with long-term follow-up. 1562 42

Patients with Leigh syndrome classically present in early childhood with developmental regression, ataxia, and hypotonia with subsequent respiratory and brainstem dysfunction. However, the clinical presentation can be highly variable. This report presents five cases of Leigh syndrome with atypical presentations. The first patient is a 17-month-old female who presented with progressive limb weakness diagnosed as Guillain-Barre syndrome. Postmortem examination demonstrated Leigh syndrome confined to the spinal cord. The case series then describes two sisters one of whom presented at 11 years of age with central respiratory failure and encephalopathy. Her 15-year-old sister presented with a progressive diplegia. The fourth patient presented with bronchiolitis and apnea at 3 months of age due to bilateral brainstem lesions. Her second cousin presented at 6 months of age with hypotonia, blindness, and tonic seizures. All patients had laboratory and radiologic findings consistent with Leigh syndrome. Evidence of spinal cord involvement was observed on magnetic resonance imaging in four of the five patients. Leigh syndrome can involve any level of the neuroaxis, resulting in a wide variety of presentations. Many atypical variants are observed, of which clinicians should be aware. Evidence of brainstem or spinal cord involvement should also be sought in patients with Leigh syndrome.
 ...
PMID:Atypical presentations of leigh syndrome: a case series and review. 1586 34


<< Previous 1 2 3 Next >>