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)

Activated protein C resistance is the most common hereditary coagulation abnormality and is caused by the factor V Leiden mutation. A newborn who developed seizures within hours after delivery and was found to have a bihemispheric stroke is described. This patient, determined to be heterozygous for factor V Leiden, is the first reported case of neonatal stroke associated with this common mutation.
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PMID:Stroke in a neonate heterozygous for factor V Leiden. 956 26

Background Cerebral venous thrombosis is an inusual disease in neonatal age. Increasing reports of this disorder had described since magnetic resonance angiography is used. Case report Newborn of apropriate seze for gestational age was delivered at 35 weeks of gestation. Refered a severe hipoxic-isquemic disease with multisistemic afectation. The second day of life presented disseminated intravascular coagulation with pulmonary bleeding. The third day, the infant developed seizures that required treatment with diazepam in continuous perfussion. MR angiography visualized superior sagital and transvers sinus thrombosis. Coagulation study detected factor V Leiden. Comments Frecuently venous cerebral thrombosis is presenting with lethargy and seizures. The most common vessels involved are sagital and transvers sinus. It is described in association with exogenous risk factors that increasing blood hyperviscosity and additional inhered coagulation dissorders such as defects on antihrombina III, protein C and S and activate protein C resistance. The last defect has a hight prevalence in subjects with trombosis events.
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PMID:[Neonatal cerebral thrombosis and deficit of factor V leiden]. 1100 60

Intrauterine growth retardation and neonatal transient mucocutaneous lesions ("transient Behcet syndrome") have been reported in pregnancies complicated by Behcets disease (BD). Neonatal neurological manifestations have not been reported in such pregnancies. Vascular and neurological involvement is known to worsen the prognosis in adults with BD. The clinical course and outcome of a 34-weeks' gestation neonate born to a mother with BD is reported. Progressive recovery from minimal respiratory distress syndrome was followed by catastrophic presentation on 6th day of life with generalized seizures. Cranial ultrasound revealed multiple hyperechoic lesions in the frontal, parietal, and periventricular regions with a few surrounded by a ring of reduced echogenicity suggesting haemorrhage into ischemic areas. Death occurred after withdrawal of life support on Day 9, after extensive discussions with parents in view of the progressive deterioration in the neonates' general condition and the cranial ultrasound findings. Strong family history of BD, clinical course, and laboratory results (no evidence of disseminated intravascular coagulation, normal levels of protein C and S, absence of factor V Leiden and anticardiolipin antibodies) suggested neurological manifestations of BD as the most probable diagnosis.
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PMID:Unusual presentation of neonatal Behcets disease. 1155 81

Inherited thrombophilia is a risk factor for dural sinus thrombosis (DST). To our knowledge, this is the first description with autopsy findings of a patient with DST associated with heterozygous factor V Leiden and a short activated partial thromboplastin time (aPTT). A 51-year-old woman presented with a 3-day history of headache, nausea, right-sided weakness, and focal motor seizure; she died 3 days after admission. At autopsy, a gross examination showed hemorrhage of bilateral parietal lobes and left primary motor cortex, uncal and tonsillar herniation, and pulmonary embolus of the right upper lobe. A microscopic examination of the brain showed an organizing thrombus in the superior sagittal sinus, diffuse cerebral edema, and extensive venous congestion. Laboratory studies showed heterozygous factor V Leiden by polymerase chain reaction and a very short aPTT of 17 seconds (reference range, 22-30 seconds). The combination of a heterozygous factor V Leiden mutation and a short aPTT may have contributed to the fatal DST in this patient.
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PMID:Fatal dural sinus thrombosis associated with heterozygous factor V Leiden and a short activated partial thromboplastin time. 1452 55

We report clinical findings, risk factors and neurological and cognitive long-term outcome in three Italian children aged 7, 8 and 5, respectively, who experienced cerebral venous sinus thrombosis (CVST). All children presented with headache, associated to nausea, vomiting and papilloedema. None suffered from epileptic seizures. In two of them a paresis of the sixth cranial nerve with diplopia was found. Diagnosis was confirmed by magnetic resonance imaging angiography (angio MRI) in all cases. In all patients plasma levels of protein C, protein S, antithrombin III (AT III), antiphospholipid antibodies (ApA) and homocysteine were detected. Furthermore, factor V Leiden mutation, prothrombin mutation G20210A and MTHFR mutation were searched for. A Protein C reduction was detected in all patients at onset; this finding, however, was not confirmed at follow-up in all of them. At one-year follow-up, neurological examination was normal in all children and neuropsychological assessment, aimed at excluding linguistic and non-linguistic cognitive deficits, revealed normal performances in two of them. In the third child, cognitive assessment confirmed a previously diagnosed developmental dyslexia.
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PMID:Cerebral venous sinus thrombosis in childhood: clinical aspects and neurological and cognitive long-term outcome in three cases. 1562 88

About 90% of cases of hemorrhagic uremic syndrome (HUS) occur in early childhood and most frequently are preceded by bloody diarrhea due to shiga-like toxin (SLT) producing Escherichia coli. We report a case of a newborn girl presenting with bloody diarrhea on her 7th day of life. Acute renal failure, severe arterial hypertension and hemolytic anemia were detected and prompt peritoneal dialysis and antihypertensive therapy were required. The girl had several episodes of seizures, necessitating intravenous phenobarbital. Transfontanel ultrasonography 48 h after disease onset was normal, whereas, MRI investigation 10 days later revealed severe ischemic lesions with beginning cystic encephalopathy. Renal function recovered and only very moderate tubular dysfunction remained. Serum analysis of factor H, von Willebrand factor protease, homocystinemia, proteins C and S, and antithrombin III were all normal. Mutation analysis of factor V Leiden, factor II, and methyltetrahydrofolate-reductase were normal. E. coli 0157:H7 and SLT 2 were detected in the stool. SLT 2 was also found in the mother's stool. This is the first report of mother-to-child transmission of SLT-producing E. coli.
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PMID:Neonatal hemolytic uremic syndrome after mother-to-child transmission of Escherichia coli O157. 1601 May 98

The objective of the present study was to examine demographic, historical, and prothrombotic risk factors in infants with perinatal arterial stroke and their mothers. Risk factors were evaluated in 60 mother-child pairs with perinatal arterial stroke. Prothrombotic factors analyzed included the DNA mutations factor V Leiden, prothrombin 20210, MTHFR C677T and A1298C; serum activity levels for protein C, protein S, and antithrombin III; serum levels of lipoprotein(a); and, in the mothers, antiphospholipid antibodies. Boys predominated, 36:24. There were four twin sets. Sixty percent were term and 22% were post-date. Ten were large for gestational age. Five mothers had abdominal trauma. Nine mothers (15%) had preeclampsia. Emergency caesarean section was performed in 17 cases (28%). Eight placental exams revealed seven with abnormalities. Seizures were the presenting sign in 70%, and 30% presented with early handedness or cerebral palsy. Prothrombotic risk factors were found in 28 of 51 mothers (55%) and 30 of 60 children (50%). Forty-one pairs (68%) had at least one abnormality in mother, child, or both. Long-term sequelae included cerebral palsy (40 of 51; 78%), cognitive impairment (35 of 51; 68%), seizures (23 of 51; 45%), and microcephaly (26 of 51; 51%). Perinatal arterial stroke is the result of multifactorial, synergistic fetal and maternal factors among which the prothrombotic factors, both fetal and maternal, appear significant.
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PMID:Risk factors for perinatal arterial stroke: a study of 60 mother-child pairs. 1767 35

Congenital protein S deficiency is associated with an increased risk of venous thrombosis. A14-year-old boy presented with epileptic seizures and thrombosis of the superior sagittal sinus and frontal hemorrhagic venous infarction after ingestion of 50 mg of dimenhydrinate, an antiemetic drug. The patient was found to be heterozygous for the factor V Leiden mutation and had a functional protein S deficiency. He recovered completely within a month after conservative treatment. Dimenhydrinate may have disrupted a subclinical pre-existing condition in this case.
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PMID:Protein S deficiency, epileptic seizures, sagittal sinus thrombosis and hemorrhagic infarction after ingestion of dimenhydrinate. 1838 86

Pediatric ischemic stroke still represents a burden, and more than half of the survivors will experience cognitive or motor disabilities. The objective of this study was to investigate the role of thrombophilia in a cohort of children with arterial ischemic stroke. The records of infants and children with clinically and radiologically confirmed stroke were reviewed. Patients with venous or perinatal stroke were not included. Thirty-three patients were diagnosed with arterial ischemic stroke. The male/female ratio was 1.75:1. The median age was 4 years. The most frequent clinical manifestations were hemiparesis (54.5%) and seizures (33.3%). Genetic thrombophilia testing was available on 24 patients. Nine of the 24 patients (37.5%) were heterozygous for factor V Leiden. None of the patients carried the factor II G20210A variant. Ten patients (41.7%) were heterozygous and 3 (12.5%) were homozygous for methylenetetrahydrofolate reductase (MTHFR) C677T variant. Fifteen patients (62.5%) had one or more genetic polymorphism. Factor V Leiden was significantly associated with arterial ischemic stroke (P < 0.001). Stroke recurred in 2 children with multiple risk factors and MTHFR C677T mutation. Factor V Leiden is one of the major genetic risk factors for pediatric arterial ischemic stroke in Lebanon. MTHFR C677T was prevalent among patients with recurrent stroke.
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PMID:Inherited thrombophilia in childhood arterial stroke: data from Lebanon. 2182 61

Dural arteriovenous fistula (DAVF) is a rare complication of cerebral venous sinus thrombosis (CVST). DAVFs develop as a result of direct arterial to venous sinus communications evolving in response to an occluded sinus. The authors present a patient with Down's syndrome who developed progressive, uncontrolled seizures and chronic CVST secondary to factor V Leiden deficiency. Brain MRI and computerised tomographic venography revealed a complex secondary DAVF, which once embolised resulted in a dramatic reduction in seizures and improvement in the clinical state. DAVFs should be considered as a potential complication in patients with persistent features of CVST.
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PMID:Progressive seizures in a patient with congenital coagulopathies. 2269 91


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