Acta paediatrica Scandinavica
-
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.
-
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.
-
Since the original description of cerebral gigantism, about 85 cases have been reported. Four papers comment on familial occurrence but never in parents and their children. This paper describes the syndrome in a mother and her child, which, together with facts pointing towards prenatal etiology, such as excessive birthweight, striking mutual resemblance and abnormal dermatoglyphics, points to a genetic defect. Previous endocrine studies are enlarged by the findings of normal serum somatomedin and serum prolactin.
-
Acta Paediatr Scand · Sep 1975
Case ReportsSubacute necrotizing encephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant.
Subacute necrotizing encephalomyelopathy (SNE) has been observed in an infant with regressing psychomotor development. The concentrations of alanine, pyruvate and lactate were increased in the serum and blood as well as in the cerebrospinal fluid. Pyruvate carboxylase activity was reduced in the liver tissue. ⋯ Ultrastructural investigations revealed high glycogen levels in liver tissue and skeletal muscle. These findings contrast with decreased gluconeogenesis, which is suggested by the diminished pyruvate carboxylase activity. Therefore it is concluded that reduced hepatic pyruvate carboxylase activity is not the primary cause of SNE.