Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion

Traficante, G;Biagiotti, R;Andreucci, E;DI TOMMASO, MARIAROSARIA;PROVENZANO, ALDESIA;Cariati, E;GIGLIO, SABRINA RITA

2015-01-01

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Abstract

This is the first reported case of fetal pericardial effusion in association with X-linked adrenoleukodystrophy and hypocortisolism from a nonautoimmune cause. Our hypothesis is that in experienced hands and after accurate genetic counseling, isolated pericardial effusion can constitute an indication for a severe metabolic disease.