SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY
1975; Wiley; Volume: 64; Issue: 5 Linguagem: Inglês
10.1111/j.1651-2227.1975.tb03916.x
ISSN1651-2227
AutoresH Gröbe, D. B. v. Bassewitz, H. Chr. Dominick, R. A. Pfeiffer,
Tópico(s)Infectious Encephalopathies and Encephalitis
ResumoABSTRACT: Gröbe, H., v. Bassewitz, D. B., Dominick, H.‐Chr. and Pfeiffer, R. A. (Departments of Paediatrics and of Medical Cell Biology, University of Münster, Münster, and Institute of Human Genetics, Medical School, Lübeck, BRD). Subacute necrotizing en‐cephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant. Acta Paediatr Scand, 64: 755, 1975.–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. An inhibitor of thiamine‐pyrophosphate‐ATP‐phosphotransferase was present in the urine. Thiamine treatment was followed by a decrease of serum alanine and blood pyruvate and lactate, but there was no clinical improvement during a period of 17 months. 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.
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