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

GIGLIO, SABRINA RITA
2015-01-01

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.
2015
X-linked adrenoleukodystrophy; Prenatal diagnosis; Pericardial effusion; Genetic counseling; Severe metabolic disease
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