Cases reported "Metabolic Diseases"

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1/2. copper storage disease of the liver and chronic dietary copper intoxication in two further German infants mimicking Indian childhood cirrhosis.

    A severe copper storage disease of the liver with micronodular cirrhosis resembling Indian childhood cirrhosis (ICC) was found in two siblings of a German family leading to death in one infant at the age of 13 months. The fatal outcome correlated with severe ballooning of hepatocytes and excessive formation of mallory bodies. The copper content of the liver was 698 micrograms per gramme wet weight (control 5 micrograms) in the living patient and 2154 micrograms per gramme dry weight (controls 39, 54 micrograms) in the dead infant. In both cases copper was stored not only in hepatocytes but also to a high degree in mesenchymal cells. Chronic contamination of drinking water supplied from a well via copper pipes could be verified as the cause of copper intoxication, lending further support to ICC as an environmental, acquired disorder. Accumulation of exogenic copper already very early in infancy appears most important for the development of the disease, as both the parents and one child not exposed to copper intoxication during the first 9 months of its life are clinically healthy.
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keywords = intoxication
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2/2. Pronounced metabolic response to modest theophylline overdose.

    OBJECTIVE: To describe a patient who developed significant metabolic abnormalities in response to a low-level theophylline ingestion. CASE SUMMARY: An 18-year-old man was examined after ingesting theophylline 3 g in a suicide attempt. Although his peak theophylline concentration was 157 mumol/L (28.2 micrograms/mL), it was associated with significant leukocytosis, hypokalemia, hypomagnesemia, hypophosphatemia, hyperglycemia, and lactic acidosis. These abnormalities have been previously associated with theophylline intoxication, but only in conjunction with much higher peak concentrations of theophylline. CONCLUSIONS: Significant metabolic abnormalities can occur with suicidal ingestion of relatively small amounts of theophylline. The presence of these abnormalities should be sought in theophylline overdoses. In the proper clinical circumstances, such abnormalities should raise suspicion of covert theophylline ingestion.
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keywords = intoxication
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