Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: UMLS:C0018681 (headache)
56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a three generation family with recurrent strokes and cataracts. The index case, a 14 year old boy presented with stroke at the age of 14 years and again 6 months later. His mother had long standing episodic headaches diagnosed as migraine. Grandmother was initially diagnosed with multiple sclerosis and had recurrent strokes at age 18 years and 49 years. MRI scanning showed a diffuse leukoencephalopathy with microhaemorrhages in all three individuals. All of the family members had cataracts but did not have retinal arterial changes. Sequence analysis of COL4A1 revealed the heterozygous missense mutation c.2263G-->A in exon 30, responsible for a glycine-to-arginine substitution (p.Gly755Arg) in both the index case and mother. Grandmother died at the age of 73 years and DNA analysis was not possible. Mutation in COL4A1 should be considered in families with a history of autosomal dominant cerebral vasculopathy, even in the absence of porencephaly.
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PMID:A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. 1947 66

We report a rare case of reversible posterior leukoencephalopathy syndrome (RPLS) induced by 5-FU and oxaliplatin (FOLFOX regime). A 35-year-old woman with ileus was diagnosed with sigmoid cancer Stage IV (T4N4M0P2H0), and excision of the sigmoid colon, and left ureteroureteral anastomosis was performed. Postoperative chemotherapy with FOLFOX4 was performed. Complications of hypertension were seen on day 6, and convulsions on day 11 after chemotherapy. Headache and visual disturbance were also complications. MRI of the brain revealed bilateral high signal intensities of posterior lobes on T2 weighted and FLAIR images without enhancement. The patient was treated with antihypertensive therapy and anticonvulsive therapy. Her symptoms entirely disappeared, including the bilateral posterior lesions on MRI after two weeks. This report would suggest that medical oncologists should be aware that multidrug chemotherapies may increase the risk of fatal neurological complications like RPLS.
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PMID:[A case of colon cancer with reversible posterior leukoencephalopathy syndrome following 5-FU and oxaliplatin (FOLFOX regime)]. 1962 Aug 9

Reversible posterior leukoencephalopathy (RPLS), also known as posterior reversible encephalopathy syndrome, is characterized by magnetic resonance imaging (MRI) findings of reversible vasogenic subcortical edema without infarction. The clinical presentation is usually nonspecific and typically involves global encephalopathy, seizures, headache, or visual symptoms. MRI of the brain is essential to the diagnosis of RPLS. Typical findings of RPLS include high-intensity signal on T2-weighted images predominantly in the posterior lobes of the brain that is caused by subcortical white matter vasogenic edema. Fluid-attenuated inversion recovery (FLAIR) sequences on MRI improve sensitivity and detect subtle peripheral lesions. This clinical radiographic syndrome has been described in a number of medical conditions, with hypertensive encephalopathy, eclampsia, and the use of immunosuppressant drugs (most notably calcineurin inhibitors) being the most common. It has occasionally been reported with cisplatin and rarely with carboplatin. Its occurrence with oxaliplatin is very unusual. An extensive literature search including PUBMED and direct contact with the drug manufacturer yielded only 2 known case reports. Herein, we describe a case that had classic clinical and radiologic features of RPLS. We also briefly describe 2 other patients who have been described to have RPLS with oxaliplatin in the literature.
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PMID:Delayed reversible posterior encephalopathy syndrome following chemotherapy with oxaliplatin. 1963 31

A 14-year-old female had repeated vomiting, headache, abdominal pain, visual field deficit and lethargy at the onset of hypertensive encephalopathy. Cerebrospinal fluid (CSF) test revealed a high level of IgG and protein. MRI demonstrated no supratentorial cerebral lesions but hyperintense lesions were observed from the lower pons to the Th8 level of spinal cord and cerebellar cortex on T2 weighted and FLAIR images without contrast enhancement. The two antihypertensive drugs stabilized to control her blood pressure and improved her clinical symptoms. Reexamination of MRI and cerebrospinal fluid test also revealed clear improvement of the above abnormalities. The abnormal findings on abdominal CT and renography led us to suspect renal infarction. Abdominal angiography demonstrated multifocal stenoses of renal interlobar arteries, which were supposed to supply the renal infarcted regions. These suggested that the renal infarctions due to fibromuscular dysplasia caused systemic hypertension. There have been only two reports that demonstrated spinal cord lesions in reversible posterior leukoencephalopathy syndrome (RPLES). We report extensive spinal lesions on MRI and a high level of IgG in CSF at the subacute phase in a young female with RPLES associated with hypertensive (brainstem) encephalopathy.
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PMID:A case of hypertensive encephalopathy with extensive spinal lesions on MRI. 1973 90

On May 5, 2009, the U.S. Food and Drug Administration granted accelerated approval to bevacizumab injection (Avastin; Genentech, Inc., South San Francisco, CA) as a single agent for patients with glioblastoma multiforme (GBM) with progressive disease following prior therapy. The approval was based on durable objective responses (independent radiologic review with stable or decreasing corticosteroid use). Two trials evaluating bevacizumab, 10 mg/kg by i.v. infusion every 2 weeks, were submitted. One trial also randomized patients to bevacizumab plus irinotecan treatment. All patients had received prior surgery, radiotherapy, and temozolomide. Patients with active brain hemorrhage were excluded. One trial enrolled 78 independently confirmed GBM patients. Partial responses were observed in 25.9% (95% confidence interval [CI], 17.0%-36.1%) of the patients. The median response duration was 4.2 months (95% CI, 3.0-5.7 months). The second trial enrolled 56 GBM patients. Partial responses were observed in 19.6% (95% CI, 10.9%-31.3%) of the patients. The median response duration was 3.9 months (95% CI, 2.4-17.4 months). Safety data were provided for the first study. The most frequently reported bevacizumab adverse events of any grade were infection, fatigue, headache, hypertension, epistaxis, and diarrhea. Grade 3-5 bevacizumab-related adverse events included bleeding/hemorrhage, central nervous system (CNS) hemorrhage, hypertension, venous and arterial thromboembolic events, wound-healing complications, proteinuria, gastrointestinal perforation, and reversible posterior leukoencephalopathy. The attribution of certain adverse events (e.g., CNS hemorrhage, wound-healing complications, and thromboembolic events) to either bevacizumab, underlying disease, or both could not be determined because of the single-arm, noncomparative study design.
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PMID:FDA drug approval summary: bevacizumab (Avastin) as treatment of recurrent glioblastoma multiforme. 1989 38

A 40-year-old woman was diagnosed with iron deficiency anemia (hemoglobin 3.5 g/dl) induced by uterine myomas, and admitted to the Department of Gynecology of our hospital. During admission, she underwent the daily intravenous administration of saccharated ferric oxide for 3 weeks, and monthly GnRH analogue administration was started. Her hemoglobin level acutely increased to 9.3 g/dl over the next 18 days with normal blood pressure. Thirteen days after the 3rd administration of the GnRH analogue, she suddenly developed marked headache. Just before the onset, she had been driving a car, and spun the steering wheel to avoid a traffic accident on a busy street. This headache was so severe that she was brought to our hospital by ambulance. During transport to the hospital, her blood pressure was normal. Soon after arriving, she developed generalized convulsions, followed by status epilepticus. A brain MRI showed vasogenic edema in the posterior and parietal cortices including white matter bilaterally, and minimum subarachnoid hemorrhage was indicated in the bilateral frontal lobe and right temporal lobe. CSF analysis was unremarkable. Anticonvulsants, one course of steroid pulse therapy and glycerol were started, and status epilepticus disappeared on the same day. Abnormal areas on MRI decreased gradually. However, hyperintensity on T1- and FLAIR images remained in the right parietal lobe and bilateral occipital lobe white matter at 15 months after the onset Judging from the clinical and radiological findings, this patient was diagnosed as reversible posterior leukoencephalopathy syndrome (RPLS) accompanied with subarachnoid hemorrhage. This case suggests that an unexpected prompt physical activity or astonishment would induce RPLS in a patient treated with GnRH analogue.
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PMID:[Acutely developed reversible posterior leukoencephalopathy syndrome following a prompt physical activity to avoid a traffic accident: a case report]. 1992 86

A rare case of a brainstem variant of reversible posterior leukoencephalopathy syndrome (RPLS) is reported. A 34-year-old man with a past history of untreated chronic renal failure and hypertension was admitted to our hospital complaining of severe nuchal headache lasting for about four days. His neurological examination was normal, however physical examination revealed his blood pressure was 216/120 mmHg. Computed tomography imaging (CT) showed his brain stem with a low attenuation. Magnetic resonance imaging (MRI) revealed extensive hyperintensity and enlargement of the midbrain and pons on T2 weighted and fluid attenuated inversion-recovery (FLAIR) image. However, there was no abnormal lesion seen in either bilateral occipital lobe. Diffusion-weighted image (DWI) was normal at the brainstem, but apparent diffusion coefficient (ADC) values were slightly elevated at the left midbrain. There was no contrast enhancement. His symptom and radiological finding improved soon after his blood pressure was controlled. A repeated MRI taken two weeks later showed complete resolution of the lesion. RPLS associated with predominant involvement of the brainstem and sparing of the supratentorial region is rare, but it should be differentiated from brain stem infarction, pontine glioma, central pontine myelinolysis and infective encephalitis, since the neulological consequences are potentially fully reversible after adequate and prompt treatment.
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PMID:[A case of brainstem variant of reversible posterior leukoencephalopathy syndrome]. 1993 67

Reversible cerebral vasoconstriction syndrome (RCVS) is more frequent than previously thought and is probably underdiagnosed. The mean age of onset is 42 years, and it affects slightly more women than men. RCVS is attributed to a transient, reversible dysregulation of cerebral vascular tone, which leads to multifocal arterial constriction and dilation. More than half the cases (60%) are secondary to exposure to vasoactive substances (e.g., cannabis, antidepressants, and nasal decongestants) or occur in the postpartum period. RCVS has a characteristic clinical and radiological course, developing in a single phase after a sudden onset, and there is generally no new event after 1 month. The main pattern of presentation begins with recurrent thunderclap headaches, often triggered by sexual activity or various Valsalva's maneuvers, over a period of 1 to 3 weeks. Seizures and focal neurological deficits are less frequent and generally start after the headaches. Cortical subarachnoid hemorrhage (22%), intracerebral hemorrhage (6%), seizures (3%), and reversible posterior leukoencephalopathy (9%) are early complications, occurring mainly within the first week. Ischemic events, including TIAs (16%) and cerebral infarction (4%), occur significantly later than hemorrhagic strokes, mainly during the second week. Diagnosis requires the demonstration of the characteristic "string and beads" on cerebral angiography and can be difficult, for 21% of patients have a normal initial magnetic resonance angiography (MRA) and 9% both a normal MRA and a normal transcranial Doppler. In these cases, the initial investigations must be repeated after a few days. The final diagnosis is made when a follow-up MRA shows resolution or at least marked improvement of the arterial abnormalities within 12 weeks. RCVS is sometimes associated with other large artery lesions of the head and neck, including dissections and unruptured aneurysms, especially during the postpartum period. Nimodipine is the treatment most often recommended. In our experience, it is not especially effective in severe RCVS. Relapses are possible but rare and have not yet been reported in prospective series. Although the exact pathophysiology remains speculative, strong recommendations against vasoactive substances appear prudent.
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PMID:[Reversible cerebral vasoconstriction syndrome]. 1994 50

Occasionally, patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) present atypical features such as confusion, coma, or nonconvulsive status epilepticus. Acute focal neuropsychological syndrome revealing the disease has been poorly documented. We report the atypical presentation of two patients in whom CADASIL was revealed by an episode of headache followed by focal neuropsychological impairment.
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PMID:Acute headache followed by focal neuropsychological impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 2012 31

Posterior reversible encephalopathy syndrome (PRES) is known to occur after solid organ transplantation, and is caused by immunosuppressive agents such as tacrolimus. PRES onset usually occurs within the first 2months after liver transplantation. Clinical findings include seizures, headache, focal neurological deficits, visual disturbances, and altered mental status. These are associated with characteristic imaging features of subcortical white matter lesions on brain MRI. Atypical localizations of this posterior leukoencephalopathy have been reported. Expeditious recognition of the syndrome may lead to a complete recovery. Abnormalities of EEG during follow-up might be associated with unfavorable seizure outcome, even when neuroimaging changes resolve. We report a case of late-onset PRES with atypical localization following liver transplantation. The patient developed epilepsy despite resolution of MRI lesions at 8 months of follow-up. EEG was a prognostic factor of seizure persistence, suggesting an incomplete recovery of brain lesions in contrast to neuroimaging findings.
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PMID:Epilepsy after neuroimaging normalization in a woman with tacrolimus-related posterior reversible encephalopathy syndrome. 2017 Nov 45


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