Intracerebral Hemorrhage Treatment

Intracerebral Hemorrhage Treatment

Introduction: The prevalence of hereditary antithrombin (AT) deficiency, an uncommon autosomal disorder, has been reported to range from 0.2 to 7 in 1000 in the general population. Although most patients remain asymptomatic during the first decades of life, the cumulative risk of thromboembolism is 65% by 30 years of age. A neonate with a fatal cerebral hemorrhage who was found to have had a noval AT gene mutation was described.

Case Report: An infant boy born at term weighed 2840 g and had Apgar scores of 10 at both 1 and 5 minutes. The infant's clinical status deteriorated rapidly on day 7 when seizures occurred. Massive bleeding within the ventricles and left thalamus was  revealed by CT, and MRI confirmed a venous thrombosis. The infant died at 24 days of age. Laboratory tests showed AT levels at the lower end of the normal range. It was discovered, however, that asymptomatic AT deficiency was present in the mother, sister, and maternal grandfather, and the maternal aunt had a history suggesting undiagnosed pulmonary embolism associated with AT deficiency. Neither the proband nor the family members tested had the factor V Q506 or factor II G20210A mutations. Determination of the complete nucleotide sequence of the AT coding sequence in both the proband and the family showed a previously unreported point mutation in exon 3b (T6472C) responsible for a single amino acid substitution (Ser 191 pro).

Discussion: Thrombosis is rare during the first weeks of life, and the usual risk factors were not present in this case. The diagnosis of AT deficiency was difficult because the infant's AT level was in the normal range. Confirmation of inherited AT deficiency was provided by a family study with genetic tests. Screening for AT deficiency and other abnormalities associated with thrombosis should be performed in neonatal cases of thrombosis.