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)

The primary antiphospholipid syndrome and protein S deficiency are known hypercoagulable states predisposing to ischemic strokes. The pathogenesis of those hypercoagulable states has been independently studied and, recently, interaction between them has been proposed. A 48-year-old Hispanic man had generalized seizures 5 months after the acute onset of a left middle cerebral artery infarct. He had a strong family history of strokes. After evaluation for cardiologic, rheumatologic, hematologic and metabolic etiologies for stroke, anticardiolipin antibodies and protein S deficiency were detected. Cerebral angiography was normal. First degree relatives were evaluated and screened for these conditions. Lupus anticoagulant was detected in a sister who reported a transient hemisensory deficit. None of the relatives studied had clinical or laboratory criteria for collagen vascular diseases. Coexistence of the primary antiphospholipid syndrome and protein S deficiency, two known prothrombotic states, has rarely been reported in Hispanic adults in association with ischemic stroke.
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PMID:Coexistence of primary antiphospholipid syndrome and protein S deficiency in a Hispanic man with ischemic stroke. 952 77

The carbohydrate-deficient glycoprotein syndromes are a group of recently described autosomal recessive, metabolic defects affecting multiple systems. The disorder is caused by inefficient posttranslational glycosylation of glycoproteins. Patients with the syndrome present early in life with psychomotor retardation, seizures, hypotonia, and stroke-like episodes. They also have dysmorphic features including almond-shaped eyes, constant squint, inverted nipples, and buttock fat pads. One of the features of the syndrome is coagulopathy, and we report here a patient who presented with a prolonged activated partial thromboplastin time, and was subsequently diagnosed with the carbohydrate-deficient glycoprotein syndrome. We also summarize the results of five previously published studies of the coagulation system in these patients. Most of the reported patients are deficient in factor XI, protein C, antithrombin III, and protein S. Other coagulation proteins are less frequently affected. Both bleeding and thrombosis have been observed, yet the cause of the stroke-like episodes remains speculative. The carbohydrate-deficient glycoprotein syndrome is an increasingly recognized multisystem disorder affecting hemostasis, and thus will involve clinical hematologists as part of a multidisciplinary team caring for patients with the syndrome.
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PMID:Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: case report and review of the literature. 988 8

A 12-month-old infant presented with cerebral seizures and neurological deficits. MRI scan of the brain and angiography showed massive cerebral venous sinus thrombosis complicated by a dural arteriovenous fistula. Subsequent clotting analysis revealed a protein S deficiency. Screening for inherited coagulation inhibitor deficiency is recommended in children with unexplained or atypical thrombotic events.
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PMID:Severe cerebral venous sinus thrombosis and dural arteriovenous fistula in an infant with protein S deficiency. 1023 Jun 69

The authors describe two cases of cerebral venous thrombosis (CVT) in patients with nephrotic syndrome. The main clinical features of CVT were persistent headache, hemiparesis, and seizure, and the diagnosis was based on magnetic resonance imaging and magnetic resonance angiography. Both showed acquired deficiency of free protein S. The neurologic symptoms remained stationary in the first patient, who received no anticoagulation therapy, but resolved rapidly in the second, treated with intravenous heparin and supplemented with fresh frozen plasma. CVT should be suspected in patients with nephrotic syndrome who present with symptoms of intracranial hypertension or any focal neurologic deficit.
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PMID:Cerebral venous thrombosis in patients with nephrotic syndrome--case reports. 1034 32

Cerebral sinus thrombosis associated with acquired free protein S deficiency is very rare. We report the case of an adult patient with acute lymphoblastic leukemia who presented with repeated transient ischemic attacks followed by a seizure during consolidation treatment with L-asparaginase. Magnetic resonance of the brain showed a small cortical hemorrhagic infarct. Superior sagittal sinus thrombosis was demonstrated by cerebral angiogram. A marked decrease of the free form of protein S was documented. One month later, when the patient was free of symptoms, the follow-up free protein S antigen level was restored to the normal range. We suggest that the sagittal sinus thrombosis in this patient was caused by acquired, transient free protein S deficiency. This case also extends the clinical spectrum of cerebral sinus thrombosis to include recurrent transient ischemic attacks alternating with seizures.
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PMID:Sagittal sinus thrombosis associated with transient free protein S deficiency after L-asparaginase treatment: case report and review of the literature. 1071 1

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

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

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


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