Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
 1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 28-year-old woman who presented simultaneously with superior sagittal sinus thrombosis and thyroid crisis, and was subsequently found to have protein C deficiency. February 3, 2003, she admitted complaining of abdominal pain. The diagnosis of appendicitis was made, and she was operated on under lumbar anaesthesia. Day 7, she developed acute headache and distal weakness of the left lower limb. On examination she was alert, with a temperature of 38 degrees C, a sinus tachycardia of 124/min and blood pressure 164/84 mmHg. Neurological examination revealed neck stiffness and left hemiparesis, predominantly in her lower limb. Gadlinium-enhanced brain MRI revealed extensive superior sagittal sinus thrombosis. CT scan demonstrated infarction in the right frontal cortex, and subarachnoid hemorrhage adjacent to the right cerebellar tentorium. The patient was treated with a free radical scavenger edarabon, and glycerin. No anticoagulant therapy was instituted. Over the next 24 hours, her condition worsened. She became comatose, as well as developing a generalized tonic-clonic seizure. Day 12, laboratory examinations revealed an undetectable TSH-level CTSH (thyroid stimulating hormone) <0.005 mcIU/ml), with a level of free thyroxin 7.77 ng/dl (0.9-1.7), free triiodothyronin 29.6 pg/ml (2.3-4.3), and positive anti-TSH receptor antibodies determined subsequently. Coagulation factor VIII activity was 155% (normal range 60-150). Protein C deficiency (antigen 59%, activity 49%) was also present, suggesting a congenital type I heterozygous deficiency. A diagnosis of thyroid crisis on the basis of Graves' disease was made. The patient remained comatose and died on Day 16, with renal failure. The patient had protein C deficiency, a well-established risk factor for cerebral venous thrombosis (CVT). However, additional risk factors are required in most cases to precipitate CVT. In our case, this trigger was most likely thyroid crisis, suggesting that thyrotoxicosis, probably through hypercoagulability, may be a predisposing factor for the development of CVT.
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PMID:[Thyroid crisis and protein C deficiency in a case of superior sagittal sinus thrombosis]. 1737 Jun 53

A 34-year-old right-handed female presented to the emergency department with a worsening headache, neck stiffness, intermittent abnormal sensation, and right arm weakness. Shortly after arrival, she had a generalized tonic-clonic seizure. A noncontrast head computed tomography scan revealed a right-sided, low-attenuating, lobulated mass ipsilateral to her arm symptoms. Magnetic resonance imaging revealed an abnormal signal throughout the subarachnoid space and increased fluid-attenuated inversion recovery sequence signal contralateral to the mass. This presentation suggested a false localization sign of sensory and motor disturbance ipsilateral to the mass likely caused by cyst rupture and sebum spread contralateral, causing cortical irritation (evidenced by increased fluid-attenuated inversion recovery sequence signal). During mass resection, sebum was visible throughout the subarachnoid space. The patient had an uneventful recovery from surgery and has been seizure free since the resection with steady improvement of symptoms. This case highlights the importance of avoiding cyst rupture of dermoid cysts.
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PMID:False Localization of Ruptured Intracranial Dermoid Secondary to Subarachnoid Spread of Cyst Contents. 3005 65