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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year-old male presented with right-sided weakness, dysphasia and seizures while climbing the French Alps at an approximate altitude of 3,000 m. Imaging studies were consistent with superior sagittal sinus thrombosis with hemorrhage. Laboratory testing for thrombophilic states, 18 days after presentation at our hospital, showed a low protein C level (0.32 U/ml, normal 0.80-1.60 U/ml). A family member was also found to have protein C deficiency without a history of thrombosis. The patient gradually improved and was discharged on warfarin and valproic acid. This is the first reported case of cerebral venous thrombosis in a patient with congenital protein C deficiency who ascended to high altitude. We postulate that the ascent to high altitude represented an additional prothrombotic risk factor to the congenital protein C deficiency leading to cerebral thrombosis.
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PMID:Superior sagittal sinus thrombosis occurring at high altitude associated with protein C deficiency. 1083 59

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

There is a wide variety of disorders associated with thrombosis of the superior sagittal sinus (SSS), including infectious disease. noninfectious conditions such as vasculitis and hypercoagulable states, and complications arising from pregnancy or use of oral contraceptive medications. Despite these well-defined associations, approximately 25% of the cases remain idiopathic. In this article the authors describe a patient who was found to have SSS thrombosis while experiencing a thyrotoxic phase of Graves disease. The patient presented with intracerebral hemorrhage, subarachnoid hemorrhage, seizure, coma, a raised fibrinogen concentration, low protein C activity, and atrial fibrillations. Thrombolysis was successfully performed despite the coexistence of thrombosis and intracranial hemorrhage. Patients with thyrotoxicosis and a diffuse goiter may be predisposed to the development of SSS thrombosis, as a result of hypercoagulation and stasis of local venous blood flow. In the present case, a patient in whom thrombosis coexisted with intracranial hemorrhage was successfully treated using thrombolytic therapy.
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PMID:Superior sagittal sinus thrombosis induced by thyrotoxicosis. Case report. 1114 82

A subgroup of children with arterial ischemic stroke in the pre- or perinatal period present with delayed diagnosis. We identified 22 children who met the following criteria: (1) normal neonatal neurological history, (2) hemiparesis and/or seizures first recognized after two months of age, and (3) computed tomography or magnetic resonance imaging showing remote cerebral infarct. Laboratory evaluations included protein C, protein S, antithrombin, activated protein C resistance screen (APCR), Factor V Leiden (FVL), prothrombin gene defect, methylene tetrahydrofolate reductase variant (MTHFR), anticardiolipin antibody (ACLA), and lupus anticoagulant. Not all children received all tests. Age at last visit ranged from 8 months to 16.5 years (median 4 years). Twelve were boys. Fourteen had left hemisphere infarcts. Median age at presentation was 6 months. Eighteen had gestational complications. Fourteen children had at least transient coagulation abnormalities (ACLA = 11, ACLA + APCR = 1, APCR = 2 with FVL + MTHFR = 1); six of these children had family histories suggestive of thrombosis. Cardiac echocardiogram was unremarkable in the 15 tested. Outcomes included persistent hemiparesis in 22; speech, behavior, or learning problems in 12; and persistent seizures in five, with no evidence of further stroke in any patient. The persistence and importance of coagulation abnormalities in this group need further study.
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PMID:Presumed pre- or perinatal arterial ischemic stroke: risk factors and outcomes. 1150 98

Cranial sinovenous disorders comprise a disparate group of illnesses affecting one or more intracranial venous sinuses and cerebral veins, alone or in combination, due to a variety of causes. As medical knowledge advances, fewer and fewer patients have an "idiopathic" diagnosis, with causes clarified in an ever-increasing number of patients. These not only include the long-known puerperal, marantic, infective, and traumatic causes, but in recent years, also a variety of congenital and acquired coagulation disorders, such as protein S, protein C, and antithrombin III deficiency. Certain sinuses are preferentially involved with certain causative entities; for example, cavernous and lateral sinuses are more frequently occluded in relation to infectious processes, either directly or as a parameningeal focus, whereas the superior sagittal sinus is most often occluded by trauma, tumor, or coagulopathy. The optimal treatment of sinovenous occlusion depends on establishing the cause with alacrity, because delays in diagnosis may lead to life-threatening hyperpyrexia, elevations in intracranial pressure, venous infarctions, seizures, coma, and death. However, because up to a third of patients with nonseptic occlusions may survive untreated, with few residua, controversy persists regarding optimal management. There has been a dearth of randomized, prospective treatment trials in this group of disorders. The little data that exist suggest that rapid control of infection, seizure prophylaxis, and anticoagulation must be achieved early so as to prevent progression of thrombosis and intracranial venous hypertension. In recent years, direct retrograde venous thrombolysis has become increasingly available, and has produced such remarkable results that it is likely soon to become the primary treatment of choice for the nontraumatic or nontumoral occlusions.
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PMID:Cerebral Sinovenous Thrombosis. 1152 23

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

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

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

Cerebral infarction is a common cause of seizures in neonates with a prevalence of I in 4000 live births. We report two neonates with different presentations due to cerebral infarction and discuss their etiological and neuroradiological findings in this case report. The initial signs were cyanosis and convulsion. In case 1, tonic convulsion, eye deviation, while case 2 had additionally poor sucking and dehydration as a risk factor. Their evaluation for hereditary causes of thrombosis was unremarkable. With these 2 cases, it is emphasized that neonatal cerebal infarction may be a cause of neonatal convulsion. Hence, neonates with cerebral infarction should be evaluated for hereditary conditions like protein C and S deficiency, anti-thrombin III deficiency, Factor V leiden mutation, prothrombin gene mutation and homocystinuria.
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PMID:Cerebral infarctions manifesting as neonatal seizure. 1790 13

We report two sisters with extensive bilateral periventricular haemorrhagic infarction (PVHI) causing cerebral palsy (CP). The older sister presented at 20 months with cortical visual blindness, spastic diplegia, and purpura fulminans. The younger sister presented aged 3 days old with apnoeas and multifocal seizures. She subsequently had global developmental delay, cortical visual blindness, spastic quadriplegia, epilepsy, and purpura fulminans at age 2 years. Neuroimaging of both siblings showed bilateral PVHI consistent with bilateral cerebral intramedullary venous thrombosis occurring at under 28 weeks' gestation for the older sister and around time of birth for the younger sister. At latest follow-up, the older sister (13y) has spastic diplegia at Gross Motor Function Classification System (GMFCS) level II, and the younger sister (10y) has spastic quadriplegia at GMFCS level IV. Both sisters showed partial quantitative reduction in plasma protein C antigen and severe qualitative reduction in plasma protein C anticoagulant activity. They were heterozygous for two independent mutations in the protein C gene (PROC). There was no other risk factor for CP. To our knowledge, this is the first family reported with compound heterozygous PROC mutations as the likely genetic cause of familial CP. This report adds to the list of known monogenic causes of CP.
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PMID:Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. 2018 90


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