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Cerebral thrombosis in a newborn with a congenital deficiency of antithrombin III
B Brenner1, A Fishman, D Goldsher
1Institute of Hematology, Rambam Medical Center, Haifa, Israel.
Insights
Hereditary antithrombin III (AT-III) deficiency can cause severe thrombosis in infants, even presenting with cerebral clots. Early consideration and further assessment of prophylactic therapy are crucial for affected newborns.
Area of Science:
- Genetics
- Hematology
- Pediatrics
Background:
- Antithrombin III (AT-III) deficiency is a rare inherited disorder predisposing individuals to thromboembolic events.
- Type I AT-III deficiency, characterized by reduced AT-III levels, is often associated with a significant family history of blood clots.
Observation:
- A report details an Israeli Arab family spanning three generations with symptomatic Type I AT-III deficiency.
- The index case experienced deep vein thrombosis and pulmonary emboli during pregnancy.
- An infant presented with superior sagittal and rectus sinus thrombosis at two weeks of age.
Findings:
- Hereditary AT-III deficiency presents a significant risk for cerebral thrombosis in infants.
- The familial pattern highlights the genetic basis and potential severity of this condition across generations.
- Infants with unexplained cerebral thrombosis and a family history of thromboembolism warrant investigation for AT-III deficiency.
Implications:
- Early diagnosis of hereditary AT-III deficiency in infants is critical for timely intervention.
- Further research is needed to evaluate the efficacy and safety of prophylactic antithrombin III concentrate therapy in neonates.
- This case underscores the importance of considering inherited thrombophilias in pediatric thromboembolic events.
Abstract:
An Israeli Arab family with type I antithrombin III (AT-III) deficiency with several affected symptomatic members in three generations is reported. The propositus presented with deep vein thrombosis and pulmonary emboli associated with gestation. The propositus infant presented at the age of 2 weeks with superior sagittal and rectus sinus thrombosis. Hereditary AT-III deficiency should be considered in infants with cerebral thrombosis, especially if they have a family history of thromboembolism. The role of prophylactic therapy by AT-III concentrates in these infants should be further assessed.