Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion
Giovanna Traficante1, Roberto Biagiotti2, Elena Andreucci3
1Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy.
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.
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