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Fatal haemorrhagic infarct in an infant with homocystinuria

Fatal haemorrhagic infarct in an infant with homocystinuria
Fatal haemorrhagic infarct in an infant with homocystinuria

Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a previously healthy 6-month-old infant who presented with a large middle-cerebral-artery territory infarction and died of massive brain swelling. Homocystinuria due to cystathionine β-synthase (CBS) deficiency was diagnosed by metabolite analysis and confirmed by enzymatic activity measurement in a postmortem liver biopsy. Homocystinuria should be considered in the differential diagnosis of venous or arterial thrombosis, regardless of age, even in the absence of other common features of the disease. We recommend systematic metabolic screening for hyperhomocysteinemia in any child presenting with vascular lesions or premature thromboembolism.

0012-1622
132-135
Cardo, E.
adb2bd0c-977c-4c6c-b149-83e80d013174
Campistol, J.
240730a2-b6c7-4948-9e69-dd7a82194eb2
Caritg, J.
4a782592-67c3-4f49-b50f-7bd674c2ced9
Ruiz, S.
86442ef9-9add-48eb-8024-eec8282d20e8
Vilaseca, M.A.
a29a9e6d-d3ec-4295-ba06-4e3003aa31e8
Kirkham, F.
1dfbc0d5-aebe-4439-9fb2-dac6503bcd58
Blom, H.J.
198f3937-d381-4398-8de1-86ea2eabb4b7
Cardo, E.
adb2bd0c-977c-4c6c-b149-83e80d013174
Campistol, J.
240730a2-b6c7-4948-9e69-dd7a82194eb2
Caritg, J.
4a782592-67c3-4f49-b50f-7bd674c2ced9
Ruiz, S.
86442ef9-9add-48eb-8024-eec8282d20e8
Vilaseca, M.A.
a29a9e6d-d3ec-4295-ba06-4e3003aa31e8
Kirkham, F.
1dfbc0d5-aebe-4439-9fb2-dac6503bcd58
Blom, H.J.
198f3937-d381-4398-8de1-86ea2eabb4b7

Cardo, E., Campistol, J., Caritg, J., Ruiz, S., Vilaseca, M.A., Kirkham, F. and Blom, H.J. (1999) Fatal haemorrhagic infarct in an infant with homocystinuria. Developmental Medicine and Child Neurology, 41 (2), 132-135. (doi:10.1111/j.1469-8749.1999.tb00566.x).

Record type: Article

Abstract

Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a previously healthy 6-month-old infant who presented with a large middle-cerebral-artery territory infarction and died of massive brain swelling. Homocystinuria due to cystathionine β-synthase (CBS) deficiency was diagnosed by metabolite analysis and confirmed by enzymatic activity measurement in a postmortem liver biopsy. Homocystinuria should be considered in the differential diagnosis of venous or arterial thrombosis, regardless of age, even in the absence of other common features of the disease. We recommend systematic metabolic screening for hyperhomocysteinemia in any child presenting with vascular lesions or premature thromboembolism.

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Published date: February 1999

Identifiers

Local EPrints ID: 429814
URI: http://eprints.soton.ac.uk/id/eprint/429814
ISSN: 0012-1622
PURE UUID: af6f8bb7-1cec-4e84-852b-6931662f6de9
ORCID for F. Kirkham: ORCID iD orcid.org/0000-0002-2443-7958

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Date deposited: 05 Apr 2019 16:30
Last modified: 07 Oct 2020 01:46

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Contributors

Author: E. Cardo
Author: J. Campistol
Author: J. Caritg
Author: S. Ruiz
Author: M.A. Vilaseca
Author: F. Kirkham ORCID iD
Author: H.J. Blom

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