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- W2741484310 abstract "Vanishing white matter disease, which is one of the most prevalent inherited childhood leukoencephalopathies, has an extremely wide phenotypic variation. The classical phenotype is characterized by early childhood onset of chronic neurological deterioration, dominated by cerebellar ataxia. However cases with antenatal onset, severe clinical course in the neonatal period and early demise have been also defined in the literature. Almost all diagnosed newborns present with rapid neurological deterioration and unexplained coma soon after birth. Other symptoms include feeding intolerance, hypotonia, seizures, apnea and severe respiratory distress. The exact pathogenesis is not known. Cerebral magnetic resonance imaging and spectroscopy are diagnostic. Differential diagnosis is difficult in the neonatal period and the disease may be misdiagnosed as hypoxic ischemic encephalopathy, congenital infections and inborn errors of metabolism. Here we present two premature infants with unexplained comatose state and severe neurological symptoms whose cerebral imaging studies were indicative of rarefaction and cystic degeneration of the cerebral white matter, and particularly emphasize on the differential diagnosis and the importance of cerebral imaging studies in the newborn period." @default.
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- W2741484310 date "2012-01-01" @default.
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- W2741484310 title "Çocukluk çağinin ender kronik ilerleyici lökoensefalopatisi: Kaybolan beyaz cevher hastalikli iki yenidoğan olgusu A rare chronic progressive leukoencephalopathy of childhood: Two newborn cases with vanishing white matter disease" @default.
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