TY - JOUR
T1 - Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption
AU - Van Straaten, H. L.M.
AU - Van Tintelen, J. P.
AU - Trijbels, J. M.F.
AU - Van Den Heuvel, L. P.
AU - Troost, D.
AU - Rozemuller, J. M.
AU - Duran, M.
AU - De Vries, L. S.
AU - Schuelke, M.
AU - Barth, Peter G.
PY - 2005/6/1
Y1 - 2005/6/1
N2 - 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 by Samsom et al. in 1994. 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.
AB - 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 by Samsom et al. in 1994. 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.
KW - Cerebral calcifications
KW - Congenital infection
KW - Corpus callosum agenesis
KW - Ependymal cysts
KW - Leptomeningeal heterotopia
KW - Microcephaly
KW - Neuronal heterotopia
KW - Respiratory chain defects
UR - http://www.scopus.com/inward/record.url?scp=23644438523&partnerID=8YFLogxK
U2 - https://doi.org/10.1055/s-2005-865713
DO - https://doi.org/10.1055/s-2005-865713
M3 - Article
C2 - 15944905
SN - 0174-304X
VL - 36
SP - 193
EP - 199
JO - Neuropediatrics
JF - Neuropediatrics
IS - 3
ER -