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 3-year retrospective review was undertaken of the use of topiramate in 51 children aged 3-16 years with partial and generalized epilepsies who attended a tertiary referral epilepsy centre in a large children's hospital. The mean follow-up period was 19 months (range 6-33 months). Twenty-six children (51%) were still receiving topiramate at the time of their last review. Fifteen children (29%) showed a greater than 50% reduction in their seizure frequency and four children (8%) became seizure free, three on topiramate monotherapy. The drug appeared to be most effective in children with moderate learning difficulties with 75% showing an improvement in seizure control compared with 25% of children with normal educational functioning. Topiramate was withdrawn in 25 patients. The reasons for withdrawal included adverse effects in 20, lack of effect in three and worsening of seizures in two patients. Adverse side effects were reported in 57% of the 51 patients. The majority of the side effects were related to behavioural and cognitive difficulties, with less-common side effects including anorexia, weight loss and headaches.
Seizure 2000 Mar
PMID:Efficacy and tolerability of topiramate in childhood and adolescent epilepsy: a clinical experience. 1084 39

We describe a rare case of a tumor resembling dysembryoplastic neuroepithelial tumor. A 3-year-old girl had a generalized convulsion as the initial symptom, without other neurological deficits. Computed tomography showed a hypodense lesion with calcific hyperdensity in the left frontal lobe associated with deformity of the overlying calvarium. Four months later, she had a second seizure, and computed tomographic scan showed that the lesion had increased in size. Subtotal removal of the tumor was performed, and the postoperative course was uneventful without radiation therapy. Histological examination revealed a cortical lesion in which an oligodendrocyte-like area and an astrocyte-like area with cytological atypia were observed. Although the clinical course and the radiological findings closely resembled those of dysembryoplastic neuroepithelial tumor, specific glioneuronal elements were not found histologically. Daumas-Duport reported a complex form of dysembryoplastic neuroepithelial tumor that contained glial nodules in addition to a specific glioneuronal element. The histological findings of the glial nodules in this case were quite similar to those she described. We conclude that this could be an unclassified tumor closely resembling dysembryoplastic neuroepithelial tumor without a specific glioneuronal element.
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PMID:A case of an unclassified tumor closely resembling dysembryoplastic neuroepithelial tumor with rapid growth. 1098 9

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.
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PMID:Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome. 1111 42

A 3-year-old Nigerian boy was treated with phenobarbitone after having a nonfebrile seizure. Two weeks later his urine was found to contain porphobilinogen, indicating that latent acute intermittent porphyria had been unmasked by phenobarbitone. The drug was discontinued and carbamazepine was substituted. The urine became free of porphobilinogen and the patient remained well. In developing countries phenobarbitone is the most widely used anticonvulsant; it must be avoided in acute intermittent porphyria, and carbamazepine may be tolerated.
Seizure 2001 Jan
PMID:Acute intermittent porphyria, seizures, and antiepileptic drugs: a report on a 3-year-old Nigerian boy. 1118 Nov 1

Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.
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PMID:IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. 1130 Dec 27

A 3.5-month-old boy was referred to our hospital with the diagnosis of infantile spasm. His developmental milestones and physical examination were normal. During the follow-up we recorded about six to nine attacks a day and the duration of attacks was changed between 15 seconds-1.5 minutes. During the episodic attacks he was flushed and had tonic posturing associated with crossing of thighs, without loss of consciousness and his eye movements were normal. Routine and long-term electroencephalogram (EEG) were normal during attack. The patient was diagnosed as masturbation according to the clinical and EEG findings. In conclusion, we would like to stress that masturbation should also be considered in infants who were admitted with complaint of seizure, and aside from EEG monitoring a detailed history and careful observation are very important factors in differential diagnosis of these two different conditions.
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PMID:Masturbation mimicking seizure in an infant. 1156 56

A 3-year-old neutered female mixed breed dog was examined because of severe, generalized seizure activity, tetraparesis, and encephalopathic signs. Cerebrospinal fluid (CSF) evaluation was unremarkable except for a mild increase in protein. Serum and CSF titers for infectious diseases were negative. Magnetic resonance (MR) imaging examination of the brain was performed and lesions were found within the cerebral gray matter of the temporal and parietal lobes. The lesions had increased signal intensity on T1, T2, and proton density-weighted images. There was mild inhomogeneous enhancement following intravenous contrast medium administration. Neurologic status improved and the seizures were well controlled, but the dog never regained normal mentation and euthanasia was performed 10 weeks after initial evaluation. At necropsy, severe cerebral cortical necrosis was found in the regions corresponding to the lesions seen on MR imaging examination. Large numbers of fat-containing macrophages (gitter cells) were found within these areas, and are thought to be responsible for the characteristic hyperintensity seen on the MR images.
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PMID:Magnetic resonance imaging of cerebral cortical necrosis (polioencephalomalacia) in a dog. 1176 20

A 3-year-old boy had fever and bone pain. Magnetic resonance imaging of his femurs showed marrow replacement; iliac crest marrow biopsy revealed myelofibrosis. Although the pathologic criteria for Langerhans cell histiocytosis were not met, the clinical picture led to treatment with etoposide and methylprednisolone, without clinical improvement. One month after presentation, generalized tonic-clonic seizures occurred, and magnetic resonance imaging revealed parenchymal brain lesions. 2-chlorodeoxyadenosine was used. Because of the unexpected lack of response to etoposide and methylprednisolone, a second bone biopsy was performed. The diagnosis was revised to infantile myofibromatosis. After six courses of 2-chlorodeoxyadenosine, brain and bone lesions regressed, with resolution of the clinical symptoms.
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PMID:Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis. 1190 43

Carbamazepine intoxication is associated with seizures, coma, arrhythmias and death. In acute intoxication, charcoal hemoperfusion is employed for removal of the drug. This can be associated with thrombocytopenia, coagulopathy, hypothermia and hypocalcemia. Alternatively, we used high-efficiency hemodialysis with a batch dialysis system (Genius), lowering not only serum levels of carbamazepine but removing a considerable amount of the drug as measured in the dialysate. This treatment regimen was compared to treatment by hemoperfusion. A 3.5-hour high-flux hemodialysis was as effective as a 2-hour hemoperfusion. We conclude that high-efficiency hemodialysis is a safe and effective alternative for treating life-threatening carbamazepine intoxication.
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PMID:High-flux hemodialysis--an effective alternative to hemoperfusion in the treatment of carbamazepine intoxication. 1207 55

A 3-month-old girl who developed severe measles encephalitis after neonatal measles is reported. Her mother had measles when she was ten days old and she was admitted to our hospital with low grade fever, Koplik spot, and mild exanthema seventeen days after birth, and she recovered in 7 days without any complication. At three months of age, she was readmitted because of intractable seizures. The levels of IgM and IgG antibodies against measles in the cerebrospinal fluid were elevated. The measles virus genome, amplifying the region encoding the nucleocapsid protein, was detected from the brain specimen by reverse transcriptase-polymerase chain reaction. Magnetic resonance imaging showed a focal destructive lesion and diffuse cerebral atrophy. The electroencephalogram did not show periodic synchronous discharges. Although the neonatal measles was believed to be relatively mild in severity, the possible development of measles encephalitis should be carefully monitored in an infant who had neonatal measles.
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PMID:Severe infantile measles encephalitis occurred three months after neonatal measles. 1253 72


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