1/6. delirium and lactic acidosis caused by ethanol and niacin coingestion.A 44-year-old male presented to the emergency department with altered mental status. He was receiving niacin therapy for hypercholesterolemia, and 16 hours earlier had ingested a large quantity of wine. Past medical history was otherwise unremarkable; physical examination revealed paranoid ideation and asterixis. Laboratory evaluation was significant for metabolic acidosis with a calculated anion gap of 39. liver enzymes were elevated, and lactic acid level was 9.5 mmol/L (normal: 0.5 to 2.2 mmol/L). White blood cell count was 23,100, but all cultures were negative, and all other diagnostic studies, including bilirubin, prothrombin time, and ammonia were normal. The patient recovered rapidly with hydration and administration of thiamine and magnesium. After psychiatric evaluation, a diagnosis of toxic delirium due to niacin and ethanol coingestion was made. This is the first case reporting toxic delirium and lactic acidosis due to niacin and ethanol coingestion. This occurred in the absence of significant hepatic impairment. Possible mechanisms for the observed derangements are discussed.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/6. Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria.Persistent excretion of 3-methylglutaconic acid was found in a 6-month-old infant with multiple minor physical malformations and delayed development. During two episodes of intercurrent viral illness, the patient developed severe metabolic acidosis and excreted large amounts of lactate, 3-hydroxybutyrate and acetoacetate. The excretion of 3-methylglutaconic acid did not change during these episodes, nor did it increase following leucine loading. in vitro studies suggest that in this patient, as in the majority of other patients with 3-methylglutaconic aciduria, a primary defect in leucine metabolism is not responsible for the biochemical abnormality.- - - - - - - - - - ranking = 0.073284870698987keywords = physical (Clic here for more details about this article) |
3/6. Severe metabolic acidosis secondary to exertional hyperlactemia.A case is presented of severe metabolic acidosis in a previously healthy man. The cause was attributed to lactic acidosis secondary to exertion. Although lactic acid is commonly produced with increased physical activity, it is usually cleared and buffered rapidly. The pathophysiology of lactic acidosis is discussed.- - - - - - - - - - ranking = 0.073284870698987keywords = physical (Clic here for more details about this article) |
4/6. Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern sweden: a genealogical study.A hereditary myopathy with lactic acidosis during physical exercise, low physical work capacity, and paroxysmal myoglobinuria (HML), called "Myopathy with deficiency of succinate dehydrogenase and aconitase" (McKusick 255125) has been described in 19 members of nine families who lived in two geographically separate areas in northern sweden. By using the unique Swedish historical archives, including Catechetical Meeting Records from a number of northern Swedish parishes, it has been possible to trace ancestors of the nine families including all known 19 cases back in time to some key couples, who lived up to 300 years ago (that is seven to ten generations). No common single couple or common links between families in the past was found in these registers as a support for a single or several mutations that had developed far back in time. The mode of inheritance in this family is most likely autosomal recessive. This material will be used for the chromosomal localisation of the gene.- - - - - - - - - - ranking = 0.14656974139797keywords = physical (Clic here for more details about this article) |
5/6. Lactic acidosis and renal enlargement at diagnosis and relapse of acute lymphoblastic leukemia.Bilateral renal enlargement was noted on ultrasonography during an extensive renal evaluation for severe hypokalemic metabolic acidosis with an increased anion gap in a 12-year-old Hispanic boy who had normal results of a physical examination and complete blood count. The patient was found to have acute lymphoblastic leukemia. Resolution of the lactic acidosis and bilateral renal enlargement occurred with initiation of chemotherapy and recurred with each subsequent relapse.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
6/6. Monozygotic twins with MELAS-like syndrome lacking ragged red fibers and lactacidaemia.Typical cases of MELAS present a combination of clinical and neuroradiological features, lactacidaemia, and ragged red fibers (RRFs) in striated muscle. We have observed a MELAS-like syndrome in monozygotic twins. They developed seizures typically in conjunction with physical exertion, sleep deprivation or febrile episodes. stroke-like episodes occurred usually during seizures. In twin 2 the course was fatal at age 20 years. Neuroradiological findings were typical of MELAS. plasma lactate was normal in both. CSF lactate was normal in twin 1 and normal/elevated in twin 2. RRFs were not seen in muscle biopsies of the twins. Complex I activity was reduced in muscle in twin 1. brain tissue removed at epilepsy surgery in twin 2 showed the presence of mitochondrial angiopathy. The commonest mitochondrial dna mutation in MELAS, at base pair 3243, was absent. Lactacidaemia and mitochondrial myopathy with RRFs constitute part of the diagnostic criteria of MELAS. However, the absence of these features does not exclude mitochondrial disorder with the serious manifestations of MELAS (seizures and stroke-like episodes) as seen in these twins.- - - - - - - - - - ranking = 0.073284870698987keywords = physical (Clic here for more details about this article) |