Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
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Cerebral sinus thrombosis (CST) is known to be related to a number of underlying aetiologies including otitis media, trauma, pregnancy, birth control pills, tumours, malnutrition, dehydration, haematologic disorders and malignancy (Fishman, 2000; Raizer and Abbott, 2000). We present the case of a patient with breast cancer receiving the antioestrogen drug tamoxifen who developed CST. A 40-year-old female presented as an emergency with a 10-day history of headache and left sided weakness. On questioning her past medical history included a diagnosis of breast cancer 3 years ago treated by radical mastectomy and tamoxifen 20 mg daily. At the time of admission, neurologic examination revealed a mild left sided hemiparesis and a present Babinksi sign. Non-contrast enhanced tomography was normal. Magnetic resonance imaging (MRI) showed thrombosis in the superior sagittal sinus, right lateral sinus and jugular vein in addition venous infarction in the right temporal lobe was present (Figs 1a and b). Routine haematology and biochemistry was normal. Anticoagulation tests, antithrombin III, protein S and C levels were also found to be normal. She was treated with anticoagulation therapy and her hemiparesis improved within 3 days. Control MRI showed the resorption of the venous infarction and resolution of the thrombosis (Fig. 1c).
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PMID:A case with cerebral thrombosis receiving tamoxifen treatment. 1178 61

A small proportion of patients with mild head injury (MHI) develop post-concussion symptoms (PCSs). We searched simple measures for the early detection of patients who are probable to develop PCSs. We recorded signs and symptoms, history of previous diseases, medications, and lifestyle factors and measured serum protein S-100B on admission in a series of 172 consecutive MHI patients admitted into the emergency room of a general hospital. A modified Rivermead Post-Concussion Symptoms Questionnaire was used to identify the patients with and without PCSs 1 month after the injury. We identified 37 patients with MHI who developed PCSs (22%). Odds ratios (OR) and 95% confidence intervals (CI) after adjustment for possible confounding variables were calculated by logistic regression. Independent early risk factors for PCSs in the MHI patients were skull fracture (OR 8.0, 95% CI 2.6-24.6), serum protein S-100B >/= 0.50 microg/l (OR 5.5, 95% CI 1.6-18.6), dizziness (OR 3.1, 95% CI 1.2-8.0), and headache (OR 2.6, 95% CI 1.0-6.5). Serum protein S-100B proved to be a specific, but not sensitive predictor of PCSs. The presence of skull fracture, elevated serum protein S-100B, dizziness, and headache may help the emergency room physician to identify patients at risk of PCSs and to refer them for further examination and follow-up.
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PMID:Early predictors of post-concussion symptoms in patients with mild head injury. 1260 94

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

We report a 27-year-old male who presented with headache and rapid visual impairment. He had been diagnosed with venous sinus thrombosis 3 months earlier, when he had diffuse headache, nausea and vomiting, which subsided after incomplete thrombolytic therapy. Warfarin was then prescribed without screening for coagulopathy. Ophthalmic examination revealed bilateral papilloedema, splinter hemorrhage and lipid exudates. Neuroradiological studies including magnetic resonance imaging and cerebral angiography revealed chronic partial thrombosis over superior sagittal sinus, left side transverse sinus, right side transverse and venous confluence with engorged cortical veins and secondary dural arteriovenous malformation (AVM) and reversed flow over bilateral superior orbital veins, and thrombolytic therapy was considered not feasible. Clot-assay protein S activity was decreased (25%, normal range: 65-140%). No underlying connective tissue diseases or other coagulopathies were noted. The patient's vision failed to respond to aggressive medical treatment, and he received lumboperitoneal shunt in another hospital. His vision was improved. For young patients with occlusive cerebrovascular disorder, extensive hematological investigation for coagulopathy is strongly recommended.
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PMID:Protein S deficiency associated with progressive loss of vision and intracranial venous sinus thrombosis. 1564 87

The study presents a rare case of internal jugular vein thrombosis during pregnancy. The patient's only complaints were headaches which increased after conception. In the 11th week of pregnancy thrombosis of the internal left jugular vein was diagnosed. Since then, patient had been treated with low molecular weight heparin. Further course pregnancy, delivery and puerperium were not complicated. The decreased level of protein S was responsible for the internal jugular vein thrombosis in this case.
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PMID:[The internal jugular vein thrombosis during pregnancy with decreased level of protein S]. 1636 83

A 25-year-old, 7-weeks pregnant woman was admitted to the Nagaoka Red Cross Hospital in a state of confusion, following fever, headache and vomiting. Brain CT and MRI showed swelling in the bilateral thalami, basal ganglia and splenium of corpus callosum, and thrombosis of the internal cerebral veins and straight sinus. Initial treatment by intravenous heparin and glycerol was successful, and she regained her consciousness, leaving antegrade amnesia and childish character change. Her free protein S antigen was 32% (normal 60-127) and subsequently rose to 70% after delivery. She was diagnosed as having secondary protein S deficiency associated with pregnancy. Because warfarin can be teratogenic, subcutaneous heparin injection was prescribed in order to prevent thrombosis and the patient subsequently had a successful delivery. This was the first case in Japanese of successful delivery after subcutaneous heparin treatment in a patient with cerebral venous thrombosis.
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PMID:[Successful delivery following subcutaneous heparin administration in a 7-weeks pregnant patient suffering from cerebral venous thrombosis due to secondary protein S deficiency]. 1664 38

A 39 year-old man was admitted to our hospital because of severe headache with fever continuing over two weeks. Three days after admission he developed aphasia and right hemiparesis, when his CT revealed subarachnoid hemorrhage at the left sylvian fissure. He was diagnosed as suffering from cerebral venous thrombosis because empty delta sign was positive on the enhanced brain CT. Suprasagittal sinus and bilateral transverse sinuses were not detected on the cerebral angiography. He was also diagnosed as having Graves' disease for the first time on the basis of free T3 13.56 pg/ml, free T4 4.65 ng/dl, TSH < 0.01 IU/ml, anti-TSH receptor antibody 4.3 IU/l, and thyroid stimulating antibody 224%. On the examination, homocystine and activities of antithrombin III, protein C, and protein S were normal. Antinculear, anti-DNA, anti-Sm, anticardiolipin beta2GP-I antibodies, and PR3ANCA were negative. Factor VIII activity, however, markedly increased over 300%, which has been known to increase in the cases of hyperthyroidism. He recovered well after the treatment with thiamazole in addition to warfarin followed by intravenous heparin. There are only six cases of cerebral venous thrombosis due to hyperthyroidism with increased factor VIII level. All of those cases were female, and 5 of them were taking oral contraceptives. This is a first Japanese male case.
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PMID:[Case of cerebral venous thrombosis due to graves' disease with increased factor VIII activity]. 1676 94

A 35-year-old healthy male with no history of any past medical illness developed severe headache, vomiting and drowsiness while at high altitude (4,572 m) in the eastern Himalayan ranges. He was evacuated to a tertiary-care hospital where he was diagnosed to have cerebral sinus venous thrombosis (CSVT) on magnetic resonance imaging, with deep vein thrombosis (DVT) of his right popliteo-femoral vein on color Doppler study. Investigation for thrombophilia revealed protein S (PS) deficiency in this patient. Family screening revealed low levels of PS in two elder brothers. One brother had a history of 'stroke in young' at the age of 20 years with the other being asymptomatic. This established the hereditary nature of PS deficiency. We are not aware of any previously published report on hereditary PS deficiency combined with CSVT and DVT occurring at high altitude. However, 1 case of protein C deficiency with CSVT has been reported previously.
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PMID:A case of hereditary protein S deficiency presenting with cerebral sinus venous thrombosis and deep vein thrombosis at high altitude. 1843 8

Cerebral venous thrombosis (CVT) is infrequent among cerebrovascular diseases. The simultaneous thrombosis involving both cerebral artery and venous sinus is even extremely rare. We reported a 41-year-old woman who presented with acute headache and left hemiparesis due to concomitant arterial ischemic stroke and recurrent CVT. Extensive investigation disclosed acquired protein C and protein S deficiency, iron deficiency anemia (IDA) and cryoglobulinemia. She was treated with intravenous injection of heparin followed by oral anticoagulant therapy. The headache rapidly subsided; however, left hemiparesis persisted over five months. The rare condition of simultaneous thrombosis of cerebral artery and venous sinus may be caused by the synergistic effect of coagulation disorders, IDA and cryoglobulinemia.
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PMID:Simultaneous thrombosis of cerebral artery and venous sinus. 1868 52

Reversible cerebral vasoconstriction syndrome (RCVS) has reversible multifocal narrowing of the cerebral arteries. Respiratory alkalosis in high altitude studies cause impairment of the central nervous system, presumably by cerebral vasoconstriction. A 54 year-old woman presented with a 1-week of throbbing headache around her forehead while travelling in moderately high altitude, during a windy winter. Sudden severe headache had progressed and developed bilateral lower visual fields defect along with mild weakness of her right leg on the next day. Magnetic resonance (MR) imaging revealed acute ischemic process at both occipital, parasagittal left parietal and right frontal area. MR venography was negative but MR angiography showed multifocal narrowing of both anterior and posterior circulations. Lumbar puncture revealed the opening pressure of 240 mmH2O but normal CSF profiles. Blood tests, including complete blood count, protein C, protein S, antithrombin III, high-sensitivity C-reactive protein, immunologic and antibody profiles were normal. Dexamethasone and low-molecular weight heparin were given because the intracranial vasculitis and cerebral venous thrombosis could not be ruled out. Visual fields and right leg problems had fully recovered on the second day and second week respectively. Prednisolone was discontinued at the fourth week. MR imaging and MR angiography were repeated in the sixteenth week and revealed old infarction at the left posterior parietal area but narrowing segment of arterial systems were no longer seen. There were a few previous reported cases of RCVS in Asian counties. The authors proposed that altitude changes from travelling to the moderately high altitude and cold windy winter weather were the predisposing factors for the attack of RCVS.
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PMID:Reversible cerebral vasoconstriction syndrome with increased intracranial pressure, probably related to altitude changes and windy winter travelling. 2167 54


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