1/25. Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation.OBJECTIVE: adult onset type II citrullinemia is an inherited disorder of amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. Most of the patients with this disease were reported in japan and therefore, this disease has not been well recognised outside this country. The detailed clinical pictures of the patients with type II citrullinaemia are reported and their outcomes after liver transplantation referred to. methods: Ten patients with this disease were evaluated. Seven of them underwent liver transplants using a graft obtained from a healthy family member. RESULTS: There were six men and four women; the age of onset of encephalopathy ranged from 17 to 51 years. The initial symptom in nine patients was sudden onset disturbance of consciousness, and one patient had long been regarded as having a chronic progressive psychotic illness. High concentrations of plasma citrulline and ammonia were commonly seen on admission. Although brain CT or MRI lacked any consistent findings, the EEG was abnormal in all patients, showing diffuse slow waves. Additionally, in five patients chronic pancreatitis preceded the onset of encephalopathy. After liver transplantation the metabolic abnormalities, including abnormal plasma concentrations of citrulline and ammonia, were immediately corrected and all neuropsychic symptoms soon disappeared, except for impaired cognitive function in one patient. Six out of these seven patients returned to their previous social lives, including work. CONCLUSIONS: The clinical concept of adult onset type II citrullinaemia coincides well with the range of hepatic encephalopathy, and liver transplantation is a very promising therapeutic approach.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/25. Unusual arachnoid cyst of the quadrigeminal cistern in an adult presenting with apneic spells and normal pressure hydrocephalus--case report.A 67-year-old woman was admitted to our clinic with symptoms of normal pressure hydrocephalus, lower cranial nerve pareses, and pyramidal and cerebellar signs associated with respiratory disturbances. Computed tomography (CT) and magnetic resonance imaging revealed a 4.7 x 5.4 cm quadrigeminal arachnoid cyst causing severe compression of the tectum and entire brain stem, aqueduct, and cerebellum, associated with moderate dilation of the third and lateral ventricles. Emergency surgery was undertaken due to sudden loss of consciousness and impaired breathing. The cyst was totally removed by midline suboccipital craniotomy in the prone position. Postoperatively, her symptoms improved except for the ataxia and impaired breathing. She was monitored cautiously for over 15 days. CT at discharge on the 18th postoperative day revealed decreased cyst size to 3.9 x 4.1 cm. Histological examination confirmed the diagnosis of the arachnoid cyst of the quadrigeminal cistern. The patient died of respiratory problems on the 5th day after discharge. Quadrigeminal arachnoid cysts may compress the brain stem and cause severe respiratory disturbances, which can be fatal due to apneic spells. patients should be monitored continuously in the preoperative and postoperative period until the restoration of autonomous ventilation is achieved.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
3/25. Ready to go.The patient with a decreased level of consciousness in the absence of trauma presents difficult assessment and intervention problems. This is compounded when the history is vague or nonspecific. In this case, the patient's history of embolic CVA alerted providers to the possibility of another thrombus. This patient's sudden symptoms could have resulted from a clot in the brain, heart or aorta. This patient presented with an altered level of consciousness, vomiting and low blood pressure. As is typical in elderly female patients, she had an unusual presentation of an MI. A myocardial infaction is classified as either transmural or subendocardial. A transmural infarct extends through the full thickness of the myocardium and holds greater-risk of complications due to loss of functional muscle. In a subendocardial infarct, necrosis is limited to the endocardial surface. Although many elderly patients present with subendocardial MIs, this one had a large transmural MI. In general, the circumflex artery serves the lateral and posterior walls of the myocardium, and the right coronary artery (RCA) serves the inferior wall. In an anterior MI, the left anterior descending artery (LAD) is obstructed. This vessel serves the left ventricle, parts, of the septum and paillary muscles. The LAD is often referred to as the "widowmaker" because left ventricular infarcts have a high incidence of mortality. Occlusion of LAD can cause the usual damage of an MI, and can also cause fatal damage to the valves. This patient was in profound cardiogenic shock -- the left ventricle had infarcted and was unable to maintain cardiac output. Because of her recent stroke, she was not a candidate for thrombolytic medication. With ultrasonography, a large area of the anterior wall was found to be akinetic, or not functioning at all. In this care, the sourrounding myocardium not only has to pump blood with less muscle but also to "drag" the dead tissue. This results in a progressively higher rate of O2 cnsumption within the heart, further damage to the strained heart, and death. As cigarette smoking and obesity complete for the leading preventable cause of death in the united states, familiarity with cardiac anatomy and physiology 12-lead interpretation, pharmacology and electrical therapy is essential for all emergency providers- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
4/25. Episodic spontaneous hypothermia: a periodic childhood syndrome.Episodic spontaneous hypothermia is an infrequent disorder, with unknown pathogenic mechanisms. A systemic cause or underlying brain lesion has not been found for the disease. We report four new patients, 3-9 years old, with episodic hypothermia lower than 35 degrees C, marked facial pallor, and absent shivering. The episodes could last a few hours or four days, and recurred once a week or every 2-3 months. Two patients also demonstrated bradycardia, mild hypertension, and somnolence during the events; in one of them, profuse sweating was also a feature, and all four presented with either headache, a periodic childhood syndrome, or both (recurrent abdominal pain, cyclic vomiting, or vertigo). Three patients reported a family history of migraine. neurologic examination, endocrine function, and imaging studies were normal. Migraine prophylactic therapy was of moderate efficacy. Spontaneous resolution was observed in one patient. The clinical characteristics of the syndrome allow for its inclusion as a childhood periodic syndrome related to migraine.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
5/25. Reversible altered consciousness with brain atrophy caused by valproic acid.A 5-year-old female developed alteration of consciousness during 3 days of long-term treatment with valproic acid for localization-related epilepsy. Computed tomography revealed cerebral atrophy, and electroencephalography presented slow background activity. consciousness cleared only 12 hours after valproic acid was discontinued, and normal electroencephalography results were evident 1 week later. Cerebral atrophy was nonexistent 2 months later. This rapidly developing but reversible alteration of consciousness in parallel with brain atrophy is recognized as a rare idiosyncratic adverse effect of valproic acid.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
6/25. Vasogenic edema in Bickerstaff's brainstem encephalitis: a serial MRI study.The authors report serial MRI of a patient with Bickerstaff's brainstem encephalitis (BBE), disclosing caudal migration of an initial upper midbrain lesion. High apparent diffusion coefficient values imply a vasogenic rather than cytotoxic edema as the cause of the hyperintense signal changes on T2-weighted images.- - - - - - - - - - ranking = 6keywords = brain (Clic here for more details about this article) |
7/25. Wernicke's encephalopathy: unusual contrast enhancement revealed by magnetic resonance imaging.Wernicke's encephalopathy is a serious neurologic disorder caused by vitamin-B1 or thiamine deficiency. The classical triad of clinical symptoms described by Wernicke (gait ataxia, ophthalmoplegia, and confusion) are found in only a third of patients upon initial examination. Typical findings upon MR imaging in patients with Wernicke's encephalopathy are well documented, with signal intensities in the medial thalami and periaqueductal regions of the midbrain. We report a case of Wernicke's encephalopathy revealing an unusual contrast enhancement. It is therefore important to note that the acute stage of Wernicke's encephalopathy may be associated with an intense contrast enhancement upon MR-imaging reflecting the disruption of the blood-brain barrier and inflammatory processes caused by thiamine deficiency. As a consequence from the guideline for managing Wernicke's encephalopathy by the Royal College of physicians early B-vitamin treatment in suspected is recommended cases.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
8/25. herpes simplex encephalitis: some interesting presentations.herpes simplex encephalitis (HSE) is the most common cause of fatal viral encephalitis. A high index of suspicion is mandatory for early diagnosis and successful therapy to restrict morbidity and mortality. We report 4 patients of HSE, with interesting presentations, viz. brainstem involvement in an immunosuppressed patient, kluver-bucy syndrome-a consequence of untreated HSE, HSE in the postpartum period mistaken as cortical venous thrombosis, and response to inadequate treatment. They demonstrate the wide spectrum of clinical features, pitfalls in diagnosis, and a variable response to therapy in HSE.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
9/25. Bickerstaff's brainstem encephalitis associated with IgM antibodies to GM1b and GalNAc-GD1a.This is the first report of a case of Bickerstaff's brainstem encephalitis (BBE) associated with IgM antibodies to GM1b and GalNAc-GD1a. Subsequent to campylobacter jejuni enteritis, the patient rapidly developed consciousness disturbance and hyperreflexia in addition to external ophthalmoplegia and cerebellar-like ataxia. EEG showed transient 7 Hz monorhythmic theta activities, predominantly in the front-central area. He received high doses of immunoglobulin intravenously and had completely recovered 3 months later. High anti-GM1b and anti-GalNAc-GD1a IgM antibody titers present during the acute phase decreased with his clinical improvement. An absorption study showed the anti-GM1b and anti-GalNAc-GD1a IgM antibodies to be cross-reactive. Anti-GM1b and anti-GalNAc-GD1a antibodies have been detected in some patients who developed guillain-barre syndrome after C. jejuni enteritis, whereas the anti-GQ1b IgG antibody is associated with BBE. infection by C. jejuni bearing a GM1b-like or GalNAc-GD1a-like lipooligosaccharide may trigger the production of anti-GalNAc-GD1a and anti-GM1b IgM antibodies. It is not clear why our patient developed BBE rather than guillain-barre syndrome. These antibodies may, however, prove useful serological markers for identifying BBE patients who do not have the anti-GQ1b IgG antibody.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
10/25. Neurologic complications associated with influenza A in children during the 2003-2004 influenza season in Houston, texas.OBJECTIVES: Our objectives were to (1) describe the clinical characteristics of and viruses isolated from patients who presented with neurologic symptoms associated with influenza A infection and were hospitalized at texas Children's Hospital during October and November 2003 and (2) to raise awareness of the neurologic complications of influenza among US children. methods: We reviewed the medical and laboratory records of all children who were hospitalized with neurologic symptoms and who also had evidence of influenza virus infection by rapid antigen testing or viral isolation. RESULTS: Eight children aged 5 months to 9 years with neurologic complications associated with influenza A were identified. None of the children had received the influenza vaccine. Four presented with seizures, 3 with mental status changes, and 1 with mutism. All but 1 of the patients had influenza A viral antigen detected in nasal wash samples. influenza a virus was isolated in culture from nasal wash specimens obtained from 6 of the patients; influenza a virus was also isolated from the cerebrospinal fluid of 1 of these patients. None of the patients had serum metabolic abnormalities or other cerebrospinal fluid abnormalities. Three of the patients had brain imaging abnormalities. Five of the patients were treated with antivirals. All 8 of the patients survived, 6 with complete recovery and 2 with sequelae (1 mild and 1 severe). CONCLUSIONS: Neurologic symptoms and sequelae were associated with influenza a virus infection in children during the 2003-2004 influenza season in Houston, texas. Influenza should be considered in the differential diagnosis in patients with seizures and mental status changes, especially if they present with respiratory symptoms or during an influenza outbreak.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
| | Next -> |