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Vol. 53. Núm. 3.
Páginas 241-242 (septiembre 2000)
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Vol. 53. Núm. 3.
Páginas 241-242 (septiembre 2000)
Acceso a texto completo
Cefalohematoma como primera manifestación de déficit congénito de factor XIII
Cephalohemoatoma as the first manifestation of congenital factor xiii deficiency
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11431
C. García Arqueza*, A. Gutiérrez Benjumea, J. Aguayo Maldonado, A. Almuedo Paz
Servicio de Pediatría. Sección de Neonatología. Hospital Universitario de Valme. Sevilla
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Estadísticas

El déficit congénito de factor XIII es un trastorno hereditario muy poco frecuente caracterizado por una tendencia a las hemorragias graves.

Presentamos el caso de un recién nacido afecto de un déficit hereditario, sin antecedentes familiars conocidos, que presentó un cefalohematoma como primera manifestación de la enfermedad, hecho muy poco habitual.

Se diagnosticó en el período neonatal y se instauró tratamiento sustitutivo con buenos resultados.

Se insiste en la necesidad de un diagnóstico y tratamiento precoz que prevenga la aparición de complicaciones hemorrágicas graves.

Palabras clave:
Factor XIII
Déficit congénito

Congenital factor XIII deficiency is a rare hereditary disorder characterized by a marked tendency to bleeding. We describe a male newborn with inherited factor XIII deficiency. The patient was from a family without known antecedents and presented cephalohematoma as the first manifestation of the disease. This presentation is very unusual. The patient was diagnosed during the neonatal period and was successfully treated with substitution therapy. Early diagnosis and treatment of this disorder are important to prevent complications of severe bleeding.

Keywords:
Factor XIII
Congenital deficiency
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Bibliografía
[1.]
R. Seitz, F. Ducckert, S. Lopacius, L. Muszbek, F. Rodeghiero, U. Seligsohn.
ETRO Working Party on Factor XIII questionnaire on congenital Factor XIII deficiency in Europe: status and perspectives. Study group.
Semin Thromb Hemost, 22 (1996), pp. 415-418
[2.]
J. Sixma, A. Van der Berg, M. Schiphorst, M. Schiphorst, H.J. Genze, J. McDonagh.
Immunocytochemical localisation of albumin and factor XIII in thin cryio sections of human blood platelets.
Thromb Haemost, 51 (1984), pp. 388-391
[3.]
P.G. Board, M.S. Losowsky, K.J.A. Milosewsky.
Factor XIII: inherited and acquired deficiency.
Blood Rev, 7 (1993), pp. 229-242
[4.]
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Neonatal factor XIII deficiency.
Clin Pediatr (Phila), 24 (1985), pp. 352-353
[5.]
A.A. Fanaroff.
The blood and haematopoyetic system.
Neonatal perinatal medicine. Diseases of the fetus and infant, 6.a, pp. 1201-1242
[6.]
J. McDonagh.
Hereditary and acquired deficiencies of activated factor XIII.
Hematology, 5.a, pp. 1544-1548
[7.]
J.E. Gotemberg.
Factor concentrates for the treatment of factor XIII deficiency.
Curr Opin Hematol, 5 (1998), pp. 372-375
Copyright © 2000. Asociación Española de Pediatría
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Anales de Pediatría
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¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?