1/46. Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease.The clinical, biochemical, and neuroradiologic findings and clinical follow-up of seven patients with glutaric aciduria type II are reported. Three phenotypes of the disease are encountered: neonatal-onset form with congenital anomalies (two patients) or without congenital anomalies (three patients) and late-onset form (two patients). The neonatal-onset form presents as an overwhelming illness, with severe hypoglycemia and metabolic acidosis leading to rapid death. Frequently it is associated with perinatal energy deprivation, a neonate with low birth weight and prematurity. The late-onset form presents with intermittent episodes of vomiting, hypoglycemia, and acidosis especially after meals rich in fat and/or proteins. All parents are consanguineous and have a first- or second-degree relationship. Initially, in the two phenotypes with neonatal onset and during crisis in the late-onset phenotype, routine laboratory evaluation showed severe metabolic acidosis, with an increased anion gap, hypoglycemia without ketonuria, and disturbed liver function tests. In the majority of patients with neonatal-onset forms, the kidneys, liver, and at times the spleen are enlarged with an increased echogenic pattern; however, no hepatic or renal cysts are detected. cardiomegaly is observed in most patients. The diagnosis can be easily and rapidly reached through tandem mass spectrometry study of the blood and can further be confirmed by gas chromatography/mass spectrometry analysis of the urine organic acids. In this report, the magnetic resonance imaging/computed tomography brain studies showed brain atrophy, white matter disease, and in one patient, fluid-filled cavities in the periventricular area and putamina. fluorine-18-labeled 2-fluoro-2-deoxyglucose positron emission tomographic (FDG PET) brain studies in two patients with late-onset disease showed slightly decreased activity in the cerebral cortex in one and in the caudate nuclei in the other. Brain FDG PET scan and magnetic resonance spectroscopy were normal in one patient with neonatal-onset disease. All patients were treated with a diet low in fat and protein, oral riboflavin, and carnitine. The results were promising for the late-onset disease. Intravenous carnitine gave rewarding results in one patient with neonatal-onset disease.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/46. A severely brain-damaged case of 3-hydroxyisobutyric aciduria.We report a male case of 3-hydroxyisobutyric aciduria (3HiB-uria) with severe brain damage. He had mild asphyxia at birth. He needed tube feeding for a month. He showed mild dysmorphic features, including low set ears, a long philtrum and micrognathia. At 4 months of age he had acute encephalopathy. Thereafter, severe brain damage remained and mechanical ventilation care was needed all day. After he had been admitted to our hospital at 3 years of age, repeated organic acid analysis of urine confirmed the diagnosis of 3HiB-uria. This patient had been previously diagnosed as having cerebral palsy and sequelae of acute encephalopathy.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
3/46. Rapid diagnosis of alcoholic ketoacidosis by proton NMR.In alcoholic patients, metabolic acidosis can be related to lactate acidosis associated with sepsis or thiamine deficiency, ketoacidosis, methanol or ethylene glycol poisoning. High resolution proton nuclear magnetic resonance (NMR) can be used to detect abnormal organic acid metabolites in urine or serum from patients with various metabolic disorders. In the present case, a 26-year-old patient was admitted for a coma associated with severe metabolic acidosis. Alcoholic ketoacidosis (AKA) was identified by urine proton NMR. Her metabolic disorders rapidly improved. Persisting associated neurological alteration was related to extrapontine myelinolysis as shown by imaging cerebral NMR.- - - - - - - - - - ranking = 1000.7583739742keywords = metabolic disorder (Clic here for more details about this article) |
4/46. phenytoin/isradipine interaction causing severe neurologic toxicity.OBJECTIVE: To report a young man on phenytoin who developed acute neurologic symptoms after isradipine was introduced to his treatment regimen and discuss the possible causes of this drug interaction. CASE SUMMARY: A 21-year-old white man, with propionic acidemia and seizures treated with phenytoin and carbamazepine, was started on isradipine for essential hypertension. Soon thereafter, he developed acute and severe lethargy, ataxia, dysarthria, and weakness that resolved once isradipine was withheld. phenytoin concentrations were within normal limits or elevated, despite sequential reductions of phenytoin dosage, during concomitant isradipine administration. DISCUSSION: isradipine is a known inhibitor of the CYP450 isoenzyme family. Although the daily dose of phenytoin was decreased significantly, phenytoin blood concentrations remained high, suggesting a pharmacokinetic interaction. Previously, the patient had never had neurologic symptoms associated with increased phenytoin concentrations. This also indicates a likely pharmacodynamic interaction between phenytoin and the calcium-channel blocker. Both phenytoin and isradipine have been shown to bind to calcium channels and to inhibit calcium entry into the cells. Binding of isradipine to the brain has been described in humans and animals, and calcium-channel blockers have been shown to cause potentiation of anticonvulsant action of phenytoin. CONCLUSIONS: Acute pharmacokinetic and pharmacodynamic interactions between phenytoin and isradipine were probably responsible for the lethargy, dysarthria, ataxia, and weakness our patient developed. The combination of phenytoin and calcium-channel blockers should be used with caution.- - - - - - - - - - ranking = 0.33333333333333keywords = brain (Clic here for more details about this article) |
5/46. Alcohol induced ketoacidosis, severe hypoglycemia and irreversible encephalopathy.BACKGROUND: Severe hypoglycemia leading to permanent brain damage is rare in non-diabetic population. We present one such case where chronic alcoholism combined with prolonged fasting lead to such a state and patient ended in a persistent vegetative state. CASE REPORT: A 50 year old Asian woman with past history of chronic alcoholism and hepatitis c was found unresponsive in her house after drinking alcohol consecutively for 2 days. Finger-stick glucose done by paramedics was <20 mg/dl. She was given 50 ml of 50% dextrose without any neurological response. On arrival in the emergency department patient was found to be comatose with only withdrawal response to deep painful stimuli and a negative babinski's sign. Computed tomogram of the head revealed mild cerebral atrophy. After an extensive work up a diagnosis of alcoholic ketoacidosis with hypoglycemia related encephalopathy was made. CONCLUSIONS: Alcohol induced ketoacidosis is usually associated with normal blood glucose. The probable etiology of low blood sugar in our patient was alcohol-induced inhibition of gluconeogenesis along with starvation. The prolonged hypoglycemia caused cortical damage simulating ischemic brain damage. Ten months in to follow-up patient is still in persistent vegetative state with no noticeable neurological recovery.- - - - - - - - - - ranking = 0.66666666666667keywords = brain (Clic here for more details about this article) |
6/46. Unexplained drowsiness and progressive visual loss: methanol poisoning diagnosed at autopsy.A patient was admitted to the emergency department with a reduced level of consciousness and deteriorating vision. Her pupils became fixed and dilated and she developed a third nerve palsy with extensor posturing of her limbs. biochemistry profile showed an increased serum osmolar gap with a raised anion gap metabolic acidosis. Supportive treatment was instituted, but she made no recovery and brainstem death was later confirmed. Post mortem examination and toxicology screen confirmed the cause of death as methanol poisoning leading to cerebral oedema and transtentorial herniation. We highlight some of the diagnostic difficulties associated with treating a patient with a reduced level of consciousness. The clinical and biochemical findings that are critical in establishing a diagnosis of methanol intoxication are discussed. The definitive management of methanol poisoning is reviewed.- - - - - - - - - - ranking = 0.33333333333333keywords = brain (Clic here for more details about this article) |
7/46. Metabolic changes after H(2) 15O-positron emission tomography with acetazolamide in a patient with moyamoya disease: case report and review of previous cases.Perioperative ischemic complications not directly related to surgery require special attention in patients with moyamoya disease; positron emission tomography (H(2) 15O-PET) and single-photon emission computed tomography have been considered indispensable for evaluating pre- and postsurgical cerebral hemodynamics. The clinical records of 14 patients with moyamoya disease who underwent 26 extracranial-intracranial bypass operations were reviewed with special reference to perisurgical complications. One patient developed multiple postoperative ischemic infarctions and died of ischemic brain edema. The history of this patient with prolonged acidosis is analyzed, and the role of metabolic changes induced by H(2) 15O-PET with acetazolamide challenge is reviewed. Seven (77.8%) of nine patients operated on within 48 hours after H(2) 15O-PET with acetazolamide (group 1) developed metabolic acidosis, whereas only three (17.6%) of 17 patients operated on >48 hours (group 2) after the examination had intraoperative pH of <7.35. In group 1, the mean intraoperative pH was 7.328, which was significantly lower than the mean pH of 7.393 (P <.0001) in group 2. After H(2) 15O-PET with acetazolamide challenge, patients must be carefully observed concerning acidosis and volume state. We recommend at least 48 hours between examination and surgery for patients with moyamoya disease so that their conditions can stabilize. Furthermore, special care should be taken to avoid additional perioperative risk factors such as hypotension, hypocapnia, hypercapnia, and hypovolemia.- - - - - - - - - - ranking = 0.33333333333333keywords = brain (Clic here for more details about this article) |
8/46. Repeated hypoglycemia and cognitive decline. A case report.OBJECTIVE: diabetes mellitus has a high incidence in general population and goes by high morbidity by specific micro vascular pathology in the retina, renal glomerul and peripheral nerves. In type 1 DM, intensive therapy can prevent or delay the development of long-term complications associated with DM but hypoglycaemia especially severe hypoglycaemia defined, as a low blood glucose resulting in stupor, seizure, or unconsciousness that precludes self-treatment is a serious threat. Hypoglycaemia that may preferentially harm neurons in the medial temporal region, specifically the hippocampus, is a potential danger for the brain cognitive function which several studies failed to detect any significant effects, whereas others indicated an influence on it. A young diabetic case presented here with severe cognitive defect. Great number of severe hypoglycaemic or hyperglycaemic attacks and convulsion episodes were described in his medical history. RESULTS and CONCLUSION: Neuroradiologic findings on CT and MRI, pointed that global cerebral atrophy that is incompatible with his age. Brain perfusion studies (SPECT, (99m)Tc-labeled HMPAO) also showed that there were severe perfusion defects at superior temporal region and less perfusion defects at gyrus cingulum in frontal region. These regions are related with memory processing. Severe cognitive defect in this patient seems to be closely related these changes and no another reason was found to explain except the repeated severe hypoglycaemic episodes.- - - - - - - - - - ranking = 0.33333333333333keywords = brain (Clic here for more details about this article) |
9/46. fructose-1,6-diphosphatase deficiency: a rare cause of prolonged prothrombin time.A 20-year-old woman presented with severe life-threatening metabolic acidosis and hypoglycemia. In addition, her blood tests revealed elevated hepatic enzymes and a prolonged prothrombin time, with a reduction in factor vii activity. After treatment with a glucose and bicarbonate-containing intravenous infusion, there was a dramatic clinical improvement and normalization of the prothrombin time within 2 days. The patient was found to have fructose-1,6-diphosphatase deficiency, a rare metabolic disorder which has not been described previously as causing coagulation defects.- - - - - - - - - - ranking = 500.37918698709keywords = metabolic disorder (Clic here for more details about this article) |
10/46. Is there an upper limit of intracranial pressure in patients with severe head injury if cerebral perfusion pressure is maintained?Authors of recent studies have championed the importance of maintaining cerebral perfusion pressure (CPP) to prevent secondary brain injury following traumatic head injury. Data from these studies have provided little information regarding outcome following severe head injury in patients with an intracranial pressure (ICP) greater than 40 mm Hg, however, in July 1997 the authors instituted a protocol for the management of severe head injury in patients with a glasgow coma scale score lower than 9. The protocol was focused on resuscitation from acidosis, maintenance of a CPP greater than 60 mm Hg through whatever means necessary as well as elevation of the head of the bed, mannitol infusion, and ventriculostomy with cerebrospinal fluid drainage for control of ICP. Since the institution of this protocol, nine patients had a sustained ICP greater than 40 mm Hg for 2 or more hours, and five of these had an ICP greater than 75 mm Hg on insertion of the ICP monitor and later experienced herniation and expired within 24 hours. Because of the severe nature of the injuries demonstrated on computerized tomography scans and their physical examinations, these patients were not aggressively treated under this protocol. The authors vigorously attempted to maintain a CPP greater than 60 mm Hg with intensive fluid resuscitation and the administration of pressor agents in the four remaining patients who had developed an ICP higher than 40 mm Hg after placement of the ICP monitor. Two patients had an episodic ICP greater than 40 mm Hg for more than 36 hours, the third patient had an episodic ICP greater than of 50 mm Hg for more than 36 hours, and the fourth patient had an episodic ICP greater than 50 mm Hg for more than 48 hours. On discharge, all four patients were able to perform normal activities of daily living with minimal assistance and experience ongoing improvement. Data from this preliminary study indicate that intense, aggressive management of CPP can lead to good neurological outcomes despite extremely high ICP. Aggressive CPP therapy should be performed and maintained even though apparently lethal ICP levels may be present. Further study is needed to support these encouraging results.- - - - - - - - - - ranking = 0.33333333333333keywords = brain (Clic here for more details about this article) |
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