Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion.
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.
Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy.
Giovanna
G
Traficante
Medical and Surgical Feto-Neonatal Department, Meyer Children's University Hospital Florence, Italy.
Roberto
R
Biagiotti
Medical Genetics Unit, Meyer Children's University Hospital Florence, Italy.
Elena
E
Andreucci
Department of Health Sciences, University of Florence Florence, Italy.
Mariarosaria
M
Di Tommaso
Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy.
Aldesia
A
Provenzano
Medical and Surgical Feto-Neonatal Department, Meyer Children's University Hospital Florence, Italy.
Ettore
E
Cariati
Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy ; Medical Genetics Unit, Meyer Children's University Hospital Florence, Italy.
Sabrina
S
Giglio
Genetic counseling; X-linked adrenoleukodystrophy; hyporcotisolism; pericardial effusion