Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

L-2-hydroxyglutaric aciduria was diagnosed in a 9-month-old female infant after a complex febrile convulsion with subsequent transient left-sided hemiplegia. The symptoms were consistent with acute hemiconvulsion-hemiplegia-epilepsy syndrome. Magnetic resonance imaging (MRI) of the brain revealed distinct white-matter abnormalities in the bifrontal and bioccipital periventricular area and increased signal intensity in the lenticular, caudate, and dentate nuclei, consistent with L-2-hydroxyglutaric aciduria. Increased concentrations of L-2-hydroxyglutaric acid were detected in the urine, plasma, and cerebrospinal fluid. The patient was homozyous for the p.Lys81Glu (c.241A>G) missense mutation in the L-2-HGA gene, confirming the diagnosis of L-2-hydroxyglutaric aciduria. Acute hemiconvulsion-hemiplegia-epilepsy syndrome has not been reported as a presenting feature in L-2-hydroxyglutaric aciduria. In patients with prolonged or complicated febrile seizures such as hemiconvulsion-hemiplegia-epilepsy syndrome, L-2-hydroxyglutaric aciduria should be included in the differential diagnosis, especially in children with concomitant macrocephaly.
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PMID:Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria. 1694 46

A case of superior sagittal sinus thrombosis which was complicated with ulcerative colitis is reported. A 16-year-old male patient had a 2-year history of ulcerative colitis. He was admitted to our hospital complaining of abdominal pain, bloody bowel discharge and appetite loss, and was then treated conservatively. Two days after admission, he demonstrated generalized convulsions which were followed by right hemiplegia. MRI showed a low intensity lesion on T1 and an irregular high intensity in the subcortical area of the left frontal lobe on T2 and T2 FLAIR-weighted images. The MRI findings resembled either invasive brain tumor or local inflammation. Cerebral angiography appeared to demonstrate complete obstruction of the superior sagittal sinus with congestion of venous flow in the cortical veins. Ulcerative colitis has been reported to show hypercoagulation, leading to deep vein thrombosis within the body which sometimes causes pulmonary infarction; however, occurrence of venous thrombosis in the intracranial veins and sinus is rare. This report underscores the fact that cerebral venous thrombosis should be suspected in the case of patients with ulceritive colitis who suffer sudden onset of neurological deficits.
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PMID:[Superior sagittal sinus thrombosis suffered as a complication of ulcerative colitis: case report]. 1698 29

The features of a characteristic type of encephalopathy caused by human herpesvirus-6 are presented. All patients have clusters of brief convulsions during the stage of skin eruptions. Sometimes the encephalopathy resulted in hemiplegia or mental retardation. Because the clinical course is similar, we propose a subtype of encephalopathy "human herpesvirus-6 encephalopathy with cluster of convulsions in eruptive stage" for further studies of pathophysiology and treatment.
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PMID:HHV-6 encephalopathy with cluster of convulsions during eruptive stage. 1716 1

A 53-year-old renal allograft recipient developed nocardial cerebral abscess. It manifested clinically with encephalitis, polycythemia, convulsions, syndrome of inappropriate secretion of antidiuretic hormone (SIADH) and a space-occupying lesion presenting as multiple ring shadows in the left fronto-parietal lobe on computerized tomography (CT scan) of the brain. The initial clinical presentation included an afebrile patient with headache, convulsions and altered sensorium with no lateralising neurological deficit. He deteriorated later and developed coma with right hemiplegia. Purulent material was drained through left frontal craniotomy, and the culture confirmed the presence of nocardial infection. Despite aggressive therapy, the patient died a few days later. We conclude that high degree of early suspicion, diagnosis and prompt treatment should be stressed.
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PMID:Cerebral nocardiosis in a renal transplant recipient: a case report. 1820 49

Rasmussen syndrome or Rasmussen encephalitis is a rare, progressive gray matter disease of childhood. A case of 4-year-old boy is reported here, who presented with recurrent episodes of status epilepticus of simple partial fits along with progressive left sided hemiplegia. EEG showed focal discharges from right hemisphere. Serial MRI brain showed progressive atrophy of right cerebral hemisphere with dilatation of ipsilateral ventricle.
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PMID:Rasmussen encephalitis. 1845 4

Revisible posterior leukoencephalopathy syndrome (RPLS) is a syndrome defined predominantly by a characteristic pattern of MR images but heterogeneity and reversibility of the abnormalities is unclear. Three patients with characteristic neuroimaging of RPLS are described. Case 1. A 29-year-old woman underwent cesarean section 3 days before developing headache, visual disturbance, mild conscious deterioration and increased blood pressure. MRI on admission showed predominantly white matter edema bilaterally affecting the occipital, temporal and posterior parietal lobes. Lesions were iso-, hypointense on T1 weighted and hyperintense on T2 weighted and fluid-attenuated inversion recovery (FLAIR) images. Diffusion-weighted image (DWI) did not demonstrate hyperintensity in the same regions. She responded well to initial treatment and showed complete recovery. Case 2. A 67-year-old man had headache and visual disturbance after thromboendarterectomy of the left femoral artery. Initial DWI demonstrated hyperintensity in the occipital lobe. The patient had visual abnormality at discharge. Case 3. A 40-year-old woman with early gastric cancer had headache immediately after the injection of contrast material during abdominal computed tomography (CT) examination followed by generalized convulsion. On the third day, she had severe headache and vomiting. Her consciousness deteriorated to lethargy. CT showed marked brain edema, intracerebral hemorrhage, thin subdural hematoma and midline shift. External decompression and hematoma evacuation was performed. She had left hemianopia and left hemiplegia 1 month later. This report has important implications concerning the accurate early diagnosis of RPLS using MRI including DWI and its utility in prompting initial treatment. It should be noted that some cases demonstrating the characteristic neuroimaging pattern of RPLS do not attain full recovery and that surgical intervention is required in some cases.
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PMID:[Three cases demonstrating the characteristic neuroimaging of reversible posterior leukoencephalopathy syndrome]. 1851 60

In two siblings we found a mitochondrial encephalomyopathy, characterized by developmental delay, hemiplegia, convulsions, asymmetrical brain atrophy, and low cytochrome c oxidase (COX) activity in skeletal muscle. The disease locus was identified on chromosome 2 by homozygosity mapping; candidate genes were prioritized for their known or predicted mitochondrial localization and then sequenced in probands and controls. A homozygous nonsense mutation in the KIAA0971 gene segregated with the disease in the proband family. The corresponding protein is known as fas activated serine-threonine kinase domain 2, FASTKD2. Confocal immunofluorescence colocalized a tagged recombinant FASTKD2 protein with mitochondrial markers, and membrane-potential-dependent in vitro mitochondrial import was demonstrated in isolated mitochondria. In staurosporine-induced-apoptosis experiments, decreased nuclear fragmentation was detected in treated mutant versus control fibroblasts. In conclusion, we found a loss-of-function mutation in a gene segregating with a peculiar mitochondrial encephalomyopathy associated with COX deficiency in skeletal muscle. The corresponding protein is localized in the mitochondrial inner compartment. Preliminary data indicate that FASTKD2 plays a role in mitochondrial apoptosis.
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PMID:FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. 1877 61

In the period from 1947 to 1962, 49 cases of intracranial tuberculoma were observed and studied at the Charles Camsell Hospital, Edmonton, Alberta, among Canadian Indians and Eskimos. Thirty-six of these cases had no pre-existing clinical meningitis. Well-marked intracranial calcification was present in 60% of skull radiographs, contrasted with 1 to 6% reported in the world literature; 45% of the patients suffered from convulsions. A patient with chronic healed tuberculoma presenting with seizures and or hemiplegia or other neurologic signs was relatively common. Treatment by antituberculous drugs in the acute cases was highly satisfactory, and surgical intervention was rarely necessary, being carried out in only three cases.
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PMID:Intracranial Tuberculoma in Native Races of Canada: With Special Reference to Symptomatic Epilepsy and Neurologic Features. 2032 9

A 64-year-old woman (151 cm, 43 kg) with well controlled hypertension was diagnosed as having right lung cancer at S8 segment. She underwent right S8 segmentectomy by video assisted thoracic surgery (VATS) under general anesthesia combined with epidural anesthesia. Her vital signs were stable and BIS value was around 45 before the surgeon injected the air using a syringe with a 22 G needle to confirm the lesion resected. After the injection of air, her systolic blood pressure rapidly increased from 120 to 170 mmHg and the BIS value suddenly decreased to 5. Blood propofol concentration was reduced from 3 microg x ml(-1) to 2 microg x ml(-1) in the target-controlled infusion technique, and thereby the BIS value increased slowly. She did not wake up nor maintain sufficient spontaneous breathing even 2 hours after the discontinuation of opioids, and was transferred to ICU with tracheal intubation. In ICU, she showed clonic convulsions. Urgent CT and MRI confirmed cerebral air embolism. Her vital signs were too unstable to choose hyperbaric oxygen therapy as her first treatment. Her consciousness was recovered and her trachea was extubated on 11th postoperative day. She was discharged with left hemiparalysis from hospital.
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PMID:[Multiple cerebral infarction by air embolism associated with remarkable low BIS value during lung segmentectomy with video assisted thoracic surgery (VATS) technique: a case report]. 2042 Jan 39

Moyamoya disease is the angiographic diagnosis of a clinical syndrome showing bilateral stenosis or occlusion of the distal internal carotid arteries and their major branches with extensive parenchymal, leptomeningeal, or transdural anastomoses. The clinical features normally present as reversible ischemic neurologic deficits, sensory-motor attacks with acute hemiplegia, and motor convulsion. An acute confusional state (ACS) among hospitalized patients is a frequent and serious problem. It is characterized by an acute neurologic deficit with a fluctuating course of impaired attention span, unorganized thinking, and altered levels of consciousness. We report a case of 66-year-old woman who presented with an ACS in the emergency department. The subsequent workups including a neuroradiological examination revealed a rare case of moyamoya disease with bifrontal ischemic infarction. The recognition of an ACS as a manifestation of moyamoya disease should therefore be included in the differential diagnosis of elderly patients who present with an acutely altered neuropsychiatric state. A prompt diagnosis may help to select the most appropriate therapy for this rare disorder especially in elderly patients.
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PMID:Moyamoya disease presenting with an acute confusional state in an elderly patient. 2043 55


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