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Thromb Haemost 1976; 36(03): 495-502
DOI: 10.1055/s-0038-1648068
Original Article
Schattauer GmbH

Severe Antithrombin III Deficiency in an Infant Associated with Multiple Arterial and Venous Thromboses

Geoffrey Mendelsohn
*   Department of Histopathology, School of Pathology of The University of the Witwatersrand and The South African Institute for Medical Research, Baragwanath Hospital and The University of the Witwatersrand, Johannesburg, South Africa
,
Edward D. Gomperts
**   Department of Haematology, School of Pathology of The University of the Witwatersrand and The South African Institute for Medical Research, Baragwanath Hospital and The University of the Witwatersrand, Johannesburg, South Africa
,
Dennis Gurwitz
***   Department of Paediatrics, Baragwanath Hospital and The University of the Witwatersrand, Johannesburg, South Africa
› Author Affiliations
Further Information

Publication History

Received 02 October 1975

Accepted 20 July 1976

Publication Date:
03 July 2018 (online)

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Summary

Inherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.

The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.

* Current address: Department of Pathology, The John Hopkins Hospital, Baltimore, Md. 21205, U.S.A.


 

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