Calcificación arterial generalizada idiopática de la infancia: a propósito de un caso / Generalized arterial calcification in childhood: a case report

INTRODUCCIÓN: La calcificación arterial de la infancia es una enfermedad rara, autosómica recesiva, potencialmente letal, caracterizada por la calcificación de la lámina elástica interna de arterias de tamaño grande y mediano con engrosamiento intimal. CASO CLÍNICO: Presentamos el caso de una autopsia clínica de un recién nacido varón pre-término que muestra al nacimiento hidrops fetal y cianosis generalizada. El estudio macroscópico reveló cardiomegalia secundaria a oclusión arterial por calcificación. DISCUSIÓN: Se realiza correlación clínico-histológica de la entidad con hallazgos macro y microscópicos relevantes y actualización de diagnóstico genético

INTRODUCTION: Arterial calcification of infancy is a rare autosomal recessive genetic disorder with extremely poor prognosis characterized by extensive calcification of internal elastic lamina and thickened of intimal tissue of large and medium sized arteries. CASE REPORT: We present the case of a newborn necropsy with hydrops and widespread cyanosis. The internal examination revealed heart enlargement due to occlusive calcification of the arteries. DISCUSSION: The aim of the present report is to provide a correlation of clinical and pathological features. An update of genetic diagnosis is provided

[Generalized arterial calcification in childhood: A case report]. / Calcificación arterial generalizada idiopática de la infancia: a propósito de un caso.

INTRODUCTION: Arterial calcification of infancy is a rare autosomal recessive genetic disorder with extremely poor prognosis characterized by extensive calcification of internal elastic lamina and thickened of intimal tissue of large and medium sized arteries. CASE REPORT: We present the case of a newborn necropsy with hydrops and widespread cyanosis. The internal examination revealed heart enlargement due to occlusive calcification of the arteries. DISCUSSION: The aim of the present report is to provide a correlation of clinical and pathological features. An update of genetic diagnosis is provided.

Síndrome de Holt Oram. Descripción de una familia afectada sin mutación del gen TBX5 ni manifestaciones en un probable transmisor / Holt-Oram Syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier

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