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[Congenital type I antithrombin III deficiency with serious complications in a 7-year-old girl]
Insights
This case report details a child with recurrent thromboembolism due to antithrombin III deficiency. Early diagnosis and Syncumar therapy successfully managed the condition, preventing further complications.
Area of Science:
- Pediatrics
- Hematology
- Genetics
Background:
- A child presented with neurological symptoms including ataxia, focal convulsions, and hemiparesis.
- Initial treatment with anticonvulsants resolved seizures but not hemiparesis.
Observation:
- Progressive venous thrombosis in lower limbs developed at age six and a half.
- Phlebography revealed iliac vein thrombosis, femoral vein stenosis, and abdominal venous collaterals.
- Coeliacography showed splenomegaly and portal vein varicosity.
- Arterial thrombosis of the arteria dorsalis pedis led to toe gangrene.
Findings:
- Hemostasis examination indicated hypercoagulability secondary to antithrombin III deficiency.
- Reduced antithrombin III activity was also noted in the child's mother and two sisters.
- This genetic deficiency was identified as the underlying cause of recurrent thromboembolism.
Implications:
- Highlights the importance of investigating hypercoagulability in pediatric patients with unexplained thrombotic events.
- Demonstrates the efficacy of anticoagulation therapy, specifically Syncumar, in managing antithrombin III deficiency-related thromboembolism.
- Suggests genetic counseling and screening for family members affected by antithrombin III deficiency.
Abstract:
This case report concerns a child admitted to the County Hospital of Zalaegerszeg with the symptoms of ataxia, focal convulsions and hemiparesis. Anticonvulsive therapy abolished the epileptic manifestations, but hemiparesis remained unchanged. At the age of six and half years progressive venous thrombosis developed first on the left and some days later on the right lower limb. Phlebography revealed on both sides thrombosis of the vena iliaca which led to stenosis of the right femoral vein and dilated venous collaterals on the abdomen and right thigh. Coeliacography showed an enlarged spleen and varicosity around the portal vein. Later thrombosis of the arteria dorsalis pedis developed indicated by the gangrene the fifth toe. At this stage the child was transfered to the Pediatric Department of the University of Pécs for further evaluation. Examination of the hemostasis showed hypercoagulability due to antithrombin III deficiency pointing towards a common cause, namely thromboembolism of the earlier and recent clinical manifestations. A reduced activity of the antithrombin III was also observed in the mother and two sisters of the child. The response to Syncumar therapy was beneficial, arterial thrombosis regressed and no further thromboembolic complications developed.