DEFICIENCIA DE COBALAMINA C DE INICIO TEMPRANO: PRESENTACIÓN DE CASO CLÍNICO

Informamos un caso de deficiencia de cobalamina C en el que el inicio de los síntomas fue agudo, característica que no es frecuente en este tipo de enfermedades. La aparición de trombosis venosa cerebral en el contexto de hiperhomocisteinemia está ampliamente descrito, sin embargo, en este grupo no surge como una complicación frecuente. El abordaje de estas enfermedades debe incluir la sospecha de su existencia por medio de imágenes del sistema nervioso central y de análisis de laboratorio.
Autor
Verónica Bindi
Columnista Experta de SIIC
Institución del autor
Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan, Ciudad de Buenos Aires, Argentina
Coautores
Hernán Eiroa* Carlos Rugilo** Yeny Blanco***   
Médico, Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan, Ciudad de Buenos Aires, Argentina*
Médico Neurólogo, Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan, Ciudad de Buenos Aires, Argentina**
Médica, Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan, Ciudad de Buenos Aires, Argentina***

Palabras clave
deficiencia de cobalamina C, deficiencia de vitamina B12, hiperhomocisteinemia, trombosis venosa, tromboembolismo, acidemia metilmalónica, trombosis de senos venosos cerebrales

Clasificación en siicsalud
Artículos originales > Expertos de iberoamérica >
página  http://www.siicsalud.com/dato/casiic.php/159788

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Primera edición
23 de septiembre, 2019
Segunda edición, ampliada y corregida
19 de agosto, 2024

Bibliografía del caso clínico
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Artículos publicados por el autor (selección)
Bindi Veronica %u201CCitrullinemia type I with recurrent liver failure in a child%u201D Archivos Argentinos de Pediatria 115(115):e39-e42, 2016



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