Title: Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption
Authors: van Straaten, H L M
van Tintelen, J P
Trijbels, J M F
van den Heuvel, Lambertus
Troost, D
Rozemuller, J M
Duran, M
de Vries, L S
Schuelke, M
Barth, P G # ×
Issue Date: Jun-2005
Series Title: Neuropediatrics vol:36 issue:3 pages:193-9
Abstract: Cerebral developmental abnormalities occur in various inborn errors of metabolism including peroxisomal deficiencies, pyruvate dehydrogenase complex deficiency and others. Associations with abnormalities of the respiratory chain are rare. Here we report male and female siblings with microcephaly, a complex neuromigrational disorder including ependymal cysts, leptomeningeal and subcortical heterotopia, polymicrogyria, multifocal cerebral calcifications, agenesis of the corpus callosum, and spongiform changes in brainstem and cerebellum. Intractable lactic acidosis, causing death on the first day of life, was associated with severely reduced activities of complex I and complex IV. The neuropathological and biochemical findings are closely similar to those reported previously. The findings confirm a distinct genetic syndrome of disrupted brain development with TORCH-like calcifications, and a complex neuronal migration disorder associated with a multicomplex disorder of the respiratory chain.
ISSN: 0174-304X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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