Abstract
The clinical presentation and management of 7 neonates with idiopathic cerebral venous thrombosis (CVT) are reported from the Floating Hospital for Infants and Children, New England Medical Center Hospitals, Tufts University School of Medicine, Boston, MA.
Highlights
Increased urinary excretion of L-2-hydroxyglutaric acid, found in 8 mentally retarded patients from 5 unrelated families including 3 pairs of siblings seen in various centers in Europe, was reported from University Hospital Amsterdam, the Netherlands
L-2-hydroxyglutaric acid was increased in the CSF and plasma
Loading and dietary studies failed to reveal the origin of the L-2-hydroxyglutaric acid
Summary
Increased urinary excretion of L-2-hydroxyglutaric acid, found in 8 mentally retarded patients from 5 unrelated families including 3 pairs of siblings seen in various centers in Europe, was reported from University Hospital Amsterdam, the Netherlands. NEONATAL CEREBRAL VENOUS THROMBOSIS The clinical presentation and management of 7 neonates with idiopathic cerebral venous thrombosis (CVT) are reported from the Floating Hospital for Infants and Children, New England Medical Center Hospitals, Tufts University School of Medicine, Boston, MA. Unexplained seizures in 3 infants and unexplained lethargy in 4 led to neurological evaluation and the diagnosis of CVT. Follow-up neurological evaluation through 6 months of age showed normal development.
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