Cases reported "Metabolic Diseases"

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1/9. Multiple trigger fingers associated with geleophysic dysplasia.

    We report an infant with geleophysic dysplasia (MIM 231050) who developed multiple trigger fingers. The condition was progressive and distinct from trigger thumb, which is generally seen in infants without any underlying metabolic disease.
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keywords = metabolic disease
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2/9. Unmasking of carnitine palmitoyltransferase deficiency during an acute exacerbation of asthma complicated by rhabdomyolysis in a soldier.

    rhabdomyolysis is a life-threatening condition that may result from various etiologies. We report a rare case of severe rhabdomyosis in a soldier after a mild acute asthma exacerbation. Further work-up revealed an underlying deficiency of type II carnitine palmitoyltransferase. The case is discussed along with a review of the literature. It is concluded that acute asthma exacerbations may be a unique precipitating factor of rhabdomyolysis and may therefore unmask underlying metabolic myopathies. asthma may cause rhabdomyolysis through several different mechanisms, and thus the occurrence of rhabdomyolysis in the context of asthma exacerbations should warrant a work-up for metabolic diseases, especially in the presence of high creatine kinase levels. Given the high incidence of asthma, especially among young adults, a high index of suspicion is needed in order that rhabdomyolysis be promptly diagnosed and treated.
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keywords = metabolic disease
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3/9. Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.

    BACKGROUND: urea cycle disorders are relatively rare but well-established causes of postpartum coma and death. Such clinical presentations have been reported previously in ornithine transcarbamylase and carbamyl phosphate synthetase deficiencies. CASE: We describe a woman, without prior symptoms of metabolic disease, who presented with hyperammonemia and psychiatric symptoms in the postpartum period. Initial diagnoses included acute fatty liver of pregnancy and postpartum psychosis. She was later found to have argininosuccinate synthetase deficiency after further metabolic investigations. Rare heterozygous mutations in the argininosuccinate synthetase gene were identified. CONCLUSION: urea cycle disorders may present initially with postpartum psychiatric symptoms and may represent an underrecognized cause of "postpartum psychosis." We recommend obtaining metabolic studies in women with neurologic or severe psychiatric symptoms in the postpartum period.
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keywords = metabolic disease
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4/9. valproic acid-induced hepatopathy: nine new fatalities in germany from 1994 to 2003.

    PURPOSE: valproic acid (VPA) is an antiepileptic drug (AED) commonly used for generalized and focal epilepsies. We provide an update on hepatotoxic side effects in germany between 1994 and 2003. methods: We mailed a questionnaire to all members of the German Section of the International League Against epilepsy, asking for VPA-induced side effects, especially severe side effects such as hepatopathy. RESULTS: As a result of our questionnaire, we found 31 cases of reversible hepatotoxicity and nine cases of lethal hepatopathies in germany from 1994 to 2003. CONCLUSIONS: The outcome of patients with severe hepatotoxicity is better than that in the past. The risk of a VPA-induced hepatopathy is not limited to patients younger than 2 years, receiving polytherapy, or patients with congenital or acquired metabolic diseases.
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keywords = metabolic disease
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5/9. culture of human glomeruli from patients with metabolic or genetic diseases.

    Glomeruli from two patients with metabolic disease were cultured and examined ultrastructurally. One patient with neuronal ceroid lipofuscinosis showed intracellular membrane alterations that we have never seen in normal glomerular cells. In contrast, ultrastructural features of glomerular cells from a patient with nonketotic hyperglycinemia did not differ significantly from normal. These initial findings led us to successfully culture glomeruli from a patient with Alport's syndrome (hereditary nephritis). The results of our studies suggest that several metabolic or genetic diseases that affect the kidney could be studied through culture of tissue.
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keywords = metabolic disease
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6/9. Rectal biopsy findings in infantile neuroaxonal dystrophy.

    A 21-month-old boy with a family history of parental consanguinity and two siblings having died of a progressive neurological disorder was investigated for a neurometabolic disease because of recent loss of gait and lack of intellectual progress. While a lysosomal disease could not be verified, his clinical findings were compatible with infantile neuroaxonal dystrophy, the diagnosis of which was electron microscopically established by demonstrating typical enlarged axonal terminals in rectal biopsy tissue.
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keywords = metabolic disease
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7/9. Detection of metabolic disorders among selectively screened people with idiopathic mental retardation.

    Fifth-eight people receiving residential or other services for idiopathic mental retardation were evaluated for evidence of metabolic disease. Five (8%) demonstrated persistent urinary organic acid abnormalities on at least three occasions, which pointed towards specific genetic metabolic defects. Instigation of specific treatment programs may have improved the quality of life for one of these participants. Appropriate genetic counseling was provided but could have been instigated much earlier had these investigations been performed as part of a routine workup for idiopathic mental retardation. This pilot study suggests a need for evaluation of other similar populations with idiopathic mental retardation.
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keywords = metabolic disease
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8/9. Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease.

    Two adults were seen with cirrhosis caused by different lipid storage diseases. A 42-yr-old woman with Niemann-Pick disease type B had marked hepatomegaly, ascites and recent variceal bleeding. Her evaluation showed chronic bilateral pulmonary infiltrates, multiple stigmata of chronic liver disease including the recent cessation of menses, diuretic-resistant sterile ascites, hepatic encephalopathy and variceal bleeding. Five percent of normal sphingomyelinase activity was measured in peripheral leukocytes. A 42-yr-old man with Gaucher's disease and a history of bilateral hip replacements presented with hepatomegaly, jaundice, refractory ascites and renal insufficiency. His evaluation showed 20% to 23% of normal glucocerebrosidase activity in peripheral leukocytes. Both patients underwent orthotopic liver transplantation with resolution of all aspects of decompensated liver function. Assessment of the underlying metabolic defect before and 6 to 14 mo after transplantation showed that after transplantation the patient with Niemann-Pick disease had above normal hepatic sphingomyelinase activity, a less-marked increase in peripheral leukocyte enzyme activity and lower than normal hepatic sphingomyelin and cholesterol content. In contrast, the patient with Gaucher's disease had only a 61% increase in hepatic glucocerebrosidase activity but had an elevated hepatic glucocerebroside content that was only 15% of the pretransplant level and decreased peripheral leukocyte enzyme levels. These findings suggest that variable relationships may exist between posttransplant hepatic and peripheral leukocyte enzyme activities in the different lipidoses, which may have implications for recurrence of glycolipid-induced liver damage.
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ranking = 4
keywords = metabolic disease
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9/9. Carotid and vertebral vascular changes with primary calcium oxalosis.

    Primary calcium oxalosis is a rare, inherited metabolic disease that is associated with calcium oxalate deposits in both renal and extrarenal tissues. An unusual angiographic appearance results from subintimal oxalate crystal deposition.
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keywords = metabolic disease
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