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)

From May 1984 to April 1995, a total of 16 patients (12 females, 4 males) with cerebral venous thrombosis, diagnosed by computed tomography (CT), conventional cerebral angiography, magnetic resonance imaging (MRI) or magnetic resonance angiography (MRA), were reviewed retrospectively. The age ranged from 1 month to 16 years of age (average: 2.5 years) with 8 below 1 year of age. The presenting symptoms for infants were mental change (75%) and seizure (100%), mainly generalized (63%) in character. Associated illness was mainly closed head injury, diarrhea or dehydration. All infants had mild to severe motor handicap in a 1 to 10 year follow-up. In contrast, older children frequently presented with headache (37%) or consciousness change (50%), and were more frequently associated with sepsis or local infections. Four (50%) of them recovered completely, but two died and two were finally in a vegetative state. For the four patients with poor prognosis, all had severe initial insults and widespread sinus thrombosis. MRI and MRA are better than CT for the diagnosis of cerebral venous thrombosis. It was concluded that prognosis for venous thrombosis cases in infants is worse than in older children, but this also depends on the severity of initial insults. For infants who present with intractable seizures, cerebral venous thrombosis should be taken into account when the seizures are difficult to control.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Cerebral venous thrombosis in children. 859 29

We report two cases of late-onset pyridoxine-dependent seizures with age onset at 14 and 9 months, respectively. Their intractable seizures were refractory to diazepam, phenobarbital, phenytoin, carbamazepine, valproic acid, and adrenocorticotropic hormone, but stopped soon after intravenous administration of pyridoxine. The psychomotor development was retarded in both cases. Pyridoxine dependency is one of the few treatable intractable seizures in infancy. It should always be kept in mind, even in patients with intractable seizures beyond the neonatal period, regardless of previous patterns of electroencephalography and seizure types and responsiveness to the conventional anticonvulsants.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Late-onset pyridoxine-dependent seizures: report of two cases. 859 31

From September 1994 to April 1995, we encountered eight children, two boys and six girls, (aged 1 year 6 months to 9 years), presented with acute diarrhea followed by afebrile, generalized tonic-clonic seizures, or transient loss of consciousness with urine incontinence. Their biochemical data, including serum electrolyte levels, were within normal limits. The infective agent causing diarrhea was later proved by stool examination to be rotavirus, judged to be serotype G1 by reverse transcription - polymerase chain reaction (RT-PCR) typing. Cerebrospinal fluid (CSF) examinations performed in seven of the eight patients were within normal limits, and cultures for bacteria and virus were negative. The electroencephalograms (EEGs) performed from 1 to 13 days after seizure showed abnormal in six, and normal in two, patients. Follow-up EEGs, performed from 4 to 11 months after onset of seizure, were all normal. None had seizure recurrence despite the fact that no long-term anticonvulsant had been given. From observation here, the authors emphasize that there is a close relationship between rotavirus and afebrile seizure, and the course of afebrile seizure following rotavirus gastroenteritis is usually benign. Further studies are needed to elucidate the underlying pathogenesis.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Rotavirus gastroenteritis associated with afebrile seizure in childhood. 875 76

A full-term female neonate presented with facial port-wine stain, cutaneous telangiectasia, left facial hemihypertrophy, and left hemimegalencephaly at birth and subsequently developed hypertrophic change of left limb. She fit the diagnostic criteria of Klippel-Trenaunay-Weber syndrome. However, it was an unusual variant of this syndrome because the patient had left facial hemihypertrophy, left hemimegalencephaly and ipsilateral ventriculomegaly. Although patients with hemimegalencephaly are commonly thought to be associated with neurological defects, such as developmental delay, mental retardation and intractable seizure, she had normal neurological development and no seizure was detectable until two years of age.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Klippel-Trenaunay-Weber syndrome with hemimegalencephaly: report of one case. 893 15

A female infant presented with cyanosis, respiratory distress and unique to-and-fro murmur which she had since the age of 1-month-old. Absent pulmonary valve syndrome was diagnosed by echocardiography. She developed seizure disorders with hypocalcemia and pneumonia at the age of 2-month-old. The patient died from sepsis, intractable respiratory and heart failure. The postmortem study confirmed the diagnosis of congenital absent pulmonary valve associated with DiGeorge syndrome.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Absent pulmonary valve syndrome associated with DiGeorge syndrome: report of one case. 894 31

A 4-year-10-month-old boy with late infantile type neuronal ceroid lipofuscinosis was reported. He presented with progressive dementia, loss of visual acuity, gradual regression of speech and motor functions, and myoclonic jerks. A hyperactive deep tendon reflex was noted, but there was neither muscle weakness nor hepatomegaly. Serum lactate, pyruvate and ammonia levels were within normal limits. The funduscopic examination showed diffuse mottling of the retinal pigmented epithelium. The electroencephalogram showed irregular bilateral spike-and-waves or polyspike-and-waves and isolated focal spikes from the bilateral parieto-occipital regions. The wave forms of visual evoked potentials were flat. The electroretinogram was unrecordable. The somatosensory evoked potentials showed prolonged central conduction times from bilateral median nerves. The brainstem auditory evoked potentials were within normal limits. Diffuse cerebral and cerebellar atrophy were noted on magnetic resonance imaging. The diagnosis was confirmed by the electron-dense cytoplasmic inclusion bodies within the conjunctival squamous epithelial cells. No specific treatment was available. Regular anticonvulsants were not given during follow-up because seizures attacked him only on occasion. His visual acuity was progressively impaired. In addition to nearly total absence of speech, an inability to communicate and walk independently was also noted. The clinical features according to the subtypes, radiology, pathology, managements and prenatal diagnosis for this case are discussed.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Late infantile type neuronal ceroid lipofuscinosis: report of one case. 894 35

A term male neonate had an uncommon congenital vascular disorder of the skin covering the whole body and extremities. These skin lesions were characterized by mottling and persistent telangiectasia. A skin biopsy showed nevus vascularis reticularis which was recognized as cutis marmorata telangiectatica congenita. In addition to the cutaneous involvement, the patient also had fetal ascites, pleural effusion, patent ductus arteriosus, glaucoma, retinal detachment in the left eye, and telangiectasia in the right eye. Neonatal focal seizure developed and expired on the 34th day of life. The cerebral image studies suggested vascular anomalies with secondary cerebral parenchymal damage. Cutis marmorata telangiectatica congenita may be solitary but is frequently associated with other developmental defects. However, the specific findings of cerebral and ophthalmic lesions in our case were rather unusual.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Cutis marmorata telangiectatica congenita with cerebral and ophthalmic anomalies: report of one case. 906 94

Since 1987, we have diagnosed 10 patients, 4 males and 6 females, aged 2-11 years at the last evaluation, who all met the following criteria of severe myoclonic epilepsy in infancy (SMEI): generalized or unilateral long-lasting febrile clonic seizures in the first year of life; the subsequent appearance of myoclonic seizures and other types of seizure (partial seizures, atypical absences and convulsive status epilepticus); and neuropsychological deterioration for a certain period. Family histories of epilepsy and febrile seizures could be traced in 1 and 3 cases, respectively. None of them had previous personal history of brain insult. Electroencephalographic (EEGic) recordings in febrile seizure stage were normal; and continuous prophylaxis with phenobarbital failed to prevent the recurrence of febrile seizures. EEG studies in myoclonic stage showed generalized spike-and-waves, polyspike-and-waves, focal abnormalities and/or photosensitivity. The seizures were highly resistant to antiepileptic drugs. Our experiences suggested that comedication of valproic acid, clonazepam and carbamazepine may be most effective in treatment of the diverse seizures including myoclonic seizures, myoclonic-tonic-clonic seizures, atypical absences and partial seizures. Myoclonic seizures and atypical absences diminished in parallel to a clear-cut decrease in generalized abnormalities on EEG in 4 cases aged more than 7 years. However, the partial seizures, secondarily generalized seizures and status epilepticus were still present. Further investigations should aim to identify the underlying etiology and to search more effective treatment.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Severe myoclonic epilepsy in infancy: evolution of electroencephalographic and clinical features. 907 79

A 47-day-old male infant had daily tonic seizures and diarrhea since 7 days of age. The seizures occurred several times a day and were characterized by tonic spasms of limbs and an abnormal gaze. Interictal electroencephalography (EEG) showed a burst-suppression pattern. Brain magnetic resonance imaging revealed hypoplasia of corpus callosum. Early infantile epileptic encephalopathy was diagnosed based on the clinical and EEG features. The author here reports on this patient focusing on the diagnosis and dismal prognosis.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Early infantile epileptic encephalopathy: report of one case. 907 83

In order to identify the brain lesions of symptomatic/cryptogenic partial epilepsies (S/CPEs) in infants and children, magnetic resonance imaging (MRI) studies, thorough encephalographic (EEGic) studies, and detailed clinical and neurologic evaluations were obtained in 300 infants and children who were diagnosed to have S/CPEs with onset before the age of 13 years during the past 7 years. The overall detection rate of brain lesions by MRI was 41.7% (125/300). Congenital malformations (18 cases), vascular malformations (9 cases), neurocutaneous syndromes (13 cases), and space-taking lesions (20 cases) constitute a large percentage of SPEs in infants and children. A variety of insults such as infection, ischemia, hemorrhage, trauma and metabolic disorders can result in destructive parenchymal loss lesions including porencephaly, focal atrophy, hemiatrophy, and diffuse brain atrophy (20 cases). Major etiologic factors leading to infarction, encephalomalacia, leukomalacia, included trauma, hvpoxicischemic encephalopathy (HIE), systemic lupus erythematosus (SLE), encephalitis, vasculitis, venous thrombosis, vasculopathies, and heart problems (22 cases). Mesial temporal sclerosis (MTS) could be evidenced in around 20% (18/95) of cases with temporal lobe epilepsy (TLE), which was strongly associated with past histories of febrile seizures and encephalitis complicated by status epileptics. However, cases with porencephaly, global atrophy or delayed myelination of unilateral temporal lobe on MRI were more related to HIE. With the advent of neuroimaging techniques, particularly MRI, a wide variety of underlying pathology can be detected as a cause of symptomatic partial epilepsies in pediatric patients. The occurrence of S/CPE indicates the presence of localized brain dysfunction, and many of the causes are potentially treatable. An orderly and thorough clinical and laboratory investigations, as well as neuroimaging studies should be made to diagnose and treat any underlying conditions.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Magnetic resonance imaging in symptomatic/cryptogenic partial epilepsies of infants and children. 915 66


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