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)

A 42-yr-old woman presented with hyperthyroidism and a large, firm, irregular goiter. Within a few weeks she became hypothyroid. Five months later she developed increasingly severe neck pain and compressive symptoms. The goiter had become rock hard. A fine needle aspiration biopsy showed features of chronic thyroiditis and fibrosis. She partially responded to a course of glucocorticoids. Tamoxifen was added, with marked improvement in goiter size and pain. Both medications were tapered off. Two months later the patient experienced paresthesias of the fingertips, perioral numbness, and a seizure. She was found to have spontaneous primary hypoparathyroidism. Three months later the patient became hoarse and experienced difficulty in breathing. She was found to have a massively enlarged thyroid with compression of the right internal jugular vein and encasement of the right carotid artery as well as tracheal narrowing. She also had right vocal cord paralysis due to recurrent laryngeal nerve involvement. Because of airway compromise, an emergency isthmusectomy was performed, and the patient was given a postoperative course of glucocorticoids with gradual improvement. Postoperative diagnosis was Riedel's thyroiditis. Two months later she presented with near-syncope and was found to have bradycardia, hypotension, and right Horner's syndrome, presumably due to compression of the right carotid sheath. She was given i.v. glucocorticoids and tamoxifen. Six months later and 18 months after her initial presentation, the patient is doing remarkably well. Her goiter has regressed by more than 50%, and she no longer has any pain or difficulty breathing. She remains a little hoarse and has persistent hypothyroidism and hypoparathyroidism. She is taking prednisone (5 mg, this is being tapered very slowly) and tamoxifen (20 mg) daily. This case illustrates the protean manifestations of Riedel's thyroiditis, a rare but fascinating disease. The epidemiology of this disease, its pathophysiology and complications, and the roles of surgery and medical therapy are reviewed.
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PMID:Clinical case seminar: Riedel's thyroiditis: report of a case complicated by spontaneous hypoparathyroidism, recurrent laryngeal nerve injury, and Horner's syndrome. 1216 72

The aim of this controlled historical cohort study was to assess the validity of post-concussion syndrome in children. We identified 301 children aged 4-15 years who had sustained an isolated brain concussion, and another group of 301 children who sustained any other mild body injury excluding the head. Parents from both groups filled in standardized questionnaires containing questions about the health condition of the children: headache, neck pain, dizziness, malaise, fatigability, exercise or noise intolerance, irritability, weepiness, sadness, anxiety, nocturnal enuresis, tics, sleep disorders, memory or learning difficulties, hyperactivity, seizures, attention disorder, buzzing in the ears, subjective parental concerns about the child's health condition, and parental concerns about their child having a brain disorder. The severity of the complaints was rated on the Visual Analogue Scale. After the final exclusion, 102 pairs strictly matched by sex, age, and the date of trauma were analyzed. The differences of parental complaints about the health condition of their children between case and control groups were statistically insignificant for all symptoms, except parental concerns about their child having brain damage which were significantly higher in the case group. The likelihood of parental concerns about the possibility of their child having brain damage was 2.7 times higher in the case group. Headache, learning difficulties, and sleep disorders were significant variables predicting the concerns. These results question the validity of the post-concussion syndrome in children.
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PMID:The validity of post-concussion syndrome in children: a controlled historical cohort study. 1668 58

We present a case of a 4-year-old previously healthy child who had a possible first-time seizure at home, and upon a second Emergency Department evaluation was found to have gross cerebellar ataxia suggestive of acute stroke. Initial computed tomography scan and metabolic work-up were unrevealing. Subsequent neuroimaging demonstrated stroke in the left medulla and cerebellum secondary to left vertebral artery dissection. Cervical artery dissection may cause up to 20% of strokes in childhood and adolescence. Unlike typical adult presentations, antecedent or concurrent head and neck pain occurs less often in pediatric dissections. Symptoms of posterior circulation ischemia resulting from vertebral artery dissection may include vertigo, vomiting, ataxia, dysarthria, and seizure. Willingness to utilize newer, non-invasive imaging modalities may lead to earlier recognition of cervical artery dissection when patients have prodromal symptoms or episodes of transient ischemia. Vertebral artery dissection should be included in the differential diagnosis when evaluating children with first time seizure, headache, or neck pain.
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PMID:A preschool-age child with first-time seizure and ataxia. 1797 66

Of the many different complaints of patients presenting to the emergency department, some of the most difficult to diagnose and manage involve pathology of the head and neck. Often diagnoses of conditions affecting this part of the body are elusive, and occasionally, even once the diagnosis has been made, the management of these disorders remains challenging. This article addresses some of the high-risk chief complaints of the head and neck regarding diagnosis and management. These complaints include headache, seizure, acute focal neurologic deficits, throat and neck pain, ocular emergencies, and the difficult airway.
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PMID:High-risk chief complaints II: disorders of the head and neck. 1993 2

We report the case of a young patient with 36 weeks pregnancy, and an acute respiratory infection with severe bronchospasm, who developed an occipital headache and neck pain on the third day of inadvertent dural puncture during placement of combined epidural spinal anaesthesia for caesarian section. It was diagnosed as post-dural puncture headache until generalised tonic clonic seizures occurred the next day raising the suspicion of postpartum eclampsia or meningitis. Posterior reversible encephalopathy syndrome was diagnosed on MRI of the brain which showed features of reversible ischemia in the posterior region of the brain. With anticonvulsant therapy and antibiotics there was complete resolution of neurological symptoms. We highlight the importance of high index of suspicion of this reversible encephalopathy in obstetric cases with intentional or inadvertent dural puncture, with headache similar to post-dural punctural headache, and the essential role of neuroradiology in confirmation of the diagnosis, as placement of an epidural blood patch would be highly detrimental in these cases.
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PMID:Post-dural puncture posterior reversible encephalopathy syndrome. 2127 84

The aim of this report is to emphasize the consequences of overlooked initial CT signs of cerebral venous thrombosis. Brain CT was ordered in an afebrile patient with neck pain and occipital headache. Since no abnormalities were noted on non-contrast CT study, the patient was discharged with recommendation for routine laboratory tests and plain X-ray of the cervical spine. Right hemiparesis developed the next day with persistent headache and the patient was sent back to the Neurology Clinic where he developed myoclonic seizures compatible with focal motor status epilepticus. Neuroimaging, performed two days later, revealed a huge hemorrhagic venous infarcts in the left posterior cerebral hemisphere associated with typical signs of dural sinus thrombosis. Subtle curvilinear hyperdensities were detected within the left parietal cortico-subcortical border zone on reevaluation of the initial brain CT. A posteriori these were thought to be compatible with a developing venous infarct, associated with subtle signs most consistent with combined cortical vein and sinus thrombosis. No improvement was noted after administration of anticoagulant treatment and the patient died 11 days after the initial CT scan. Detection of early CT signs of cerebral venous thrombosis is extremely important, since delaying adequate treatment may have catastrophic consequences.
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PMID:Overlooked early CT signs of cerebral venous thrombosis with lethal outcome. 2130 67

A 28-year-old man admitted to our hospital because of severe neck pain, headache, fever and vomiting. He was alert and had no neurological deficit except for nuchal stiffness. Cerebrospinal fluid (CSF) examination showed elevated mononuclear cell counts (68/mm(3)) and protein levels (300 mg/dl). He was diagnosed as having aseptic meningitis and was thereby treated. Two days later, he manifested seizure and on the next day, severe cerebral hemorrhage occurred in the left parietal lobe and decompression surgery was performed. Cerebral venous thrombosis was strongly indicated by operative findings, cerebral angiography and retrospective assessment of MRI images. Genetic testing revealed a novel mutation (p.Cys449Tyr) combined by Protein S Tokushima mutation (p.Lys196Glu) which is frequently observed in Japanese. Possibility of CVT should be noted, even when a patient exhibits clinical symptoms and CSF findings compatible with a diagnosis of aseptic meningitis.
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PMID:[Case of cerebral venous thrombosis secondary to Protein S gene abnormality first diagnosed as aseptic meningitis]. 2306 27

Posterior reversible encephalopathy syndrome is a clinicoradiologic syndrome characterized by seizure, headache, nausea, vomiting, altered mental status, visual disturbance, or visual loss, together with radiologic findings. Herein we reported a patient who was a 27-year-old foreign workman brought to the emergency ward with blurred vision in both eyes, neck pain, somnolence, and altered mental status. He had no known medical or family history. On his physical examination, his blood pressure was 190/100 mmHg and visual acuity of both eyes was decreased (visual acuity = 20/40 for both eyes). Although blood pressure was controlled by intravenous labetalol bolus, his symptoms did not improve. The result of his brain computed tomographic scan was normal, but in the brain magnetic resonance imaging, there were hyperintensities in the occipital lobe and right cerebellar hemisphere, suggesting posterior reversible encephalopathy syndrome. The findings from a complete blood count, biochemical testing, and renal, pelvic and abdominal ultrasound and also the calculated glomerular filtration rate values revealed that all were in favor of chronic kidney disease (hemoglobin level, 10.3 mg/dL; blood urea nitrogen, 90 mg/dL; Cr, 6.8 mg/dL; potassium, 5 mEq/L; sodium, 140 mEq/L; Cockcroft-Gault glomerular filtration rate, 15; weight, 65 kg). The hemodialysis was performed by which the sign and symptoms and radiologic findings resolved within 24 hours. Although PRES is described to be in association with many medical conditions, as mentioned in many available articles, we came to a conclusion that PRES could be the first presentation of a condition such as chronic kidney disease in our case.
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PMID:Posterior reversible encephalopathy syndrome as the first presentation of chronic kidney disease. 2434 63

Pleomorphic xanthoastrocytoma (PXA) is a rare slow-growing neoplasm that has predilection for the supratentorial compartment and the temporal lobe. Children and young adults are most frequently affected and they usually present with medically refractory seizures. PXAs involving the spinal cord have been rarely documented. We describe a 15-year-old boy who presented with shoulder/neck pain and upper extremity numbness/weakness. Neuroimaging revealed a solid, contrast enhancing, and intramedullary C5 - C6 mass. Microscopy demonstrated a typical WHO grade II PXA. Molecular testing did not reveal a BRAF V600E, IDH1 R132H, or IDH2 R172H mutation. Two years after a near total resection, significant tumor progression was noted via neuroimaging. To the authors' knowledge, this is the first description of the molecular characteristics of a spinal cord PXA.
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PMID:Pleomorphic xanthoastrocytoma of the spinal cord: case report and literature review. 2449 48

A 29-year-old man, a known epileptic, presented to an accident and emergency department following a tonic-clonic seizure, suffering a second seizure in the department. Subsequently, he reported neck pain, swelling and stiffness. An otorhinolaryngology neck examination revealed a tender left side with two palpable masses and a reduced range of movement. Ultrasound confirmed a ruptured middle third of the left sternocleidomastoid muscle, which was successfully treated non-surgically with analgaesia and intensive physiotherapy. Uncommonly, sternocleidomastoid muscle rupture has been reported following high-velocity trauma, but to the best of our knowledge this is the first case described in the literature following an epileptic seizure.
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PMID:Traumatic rupture of sternocleidomastoid muscle following an epileptic seizure. 2541 30


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