Acta paediatrica Scandinavica
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Acta Paediatr Scand · Nov 1976
Case Reports Comparative StudyNeonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.
The authors report 2 familial cases of neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in the liver. In both cases, disorders started immediately after birth and were characterized by major neurological symptoms, acute metabolic acidosis with hyperketonemia and hyperammonemia. Course was rapidly fatal despite intensive care, bicarbonate therapy and several therapeutic attempts with biotin and thiamine. ⋯ This unusual metabolic pattern may be assumed to result from decreased oxaloacetate synthesis as a result of pyruvate carboxylase deficiency, and impairment of oxaloacetate dependent mitochondrial redox shuttles. Post mortem enzymatic study of the liver and kidney showed biotin unresponsive total deficiency of pyruvate carboxylase. Other gluconeogenic enzyme activities were normal.
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Acta Paediatr Scand · Nov 1976
Case ReportsRefractory coagulopathy in an infant with loss of clotting proteins into ascitic fluid.
Report of a newborn with massive ascites who developed a severe coagulopathy due to multiple intrinsic and extrinsic clotting factor deficiencies. All deficient coagulation factors were present in measurable quantities in the infant's ascitic fluid. It is postulated that she sustained loss of coagulant proteins by transudation into her peritoneal cavity. A similarly acquired coagulopathy should be suspected in all patients with a known increase in extravascular fluid compartments.