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

Giovanna Traficante; Roberto Biagiotti; Elena Andreucci; Mariarosaria Di Tommaso; Aldesia Provenzano; Ettore Cariati; Sabrina Giglio

doi:10.1002/ccr3.283

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

Clin Case Rep. 2015 Jul;3(7):643-5. doi: 10.1002/ccr3.283. Epub 2015 Jun 11.

Authors

Giovanna Traficante¹, Roberto Biagiotti², Elena Andreucci³, Mariarosaria Di Tommaso⁴, Aldesia Provenzano¹, Ettore Cariati², Sabrina Giglio⁵

Affiliations

¹ Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy.
² Medical and Surgical Feto-Neonatal Department, Meyer Children's University Hospital Florence, Italy.
³ Medical Genetics Unit, Meyer Children's University Hospital Florence, Italy.
⁴ Department of Health Sciences, University of Florence Florence, Italy.
⁵ 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.

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.

Keywords: Genetic counseling; X-linked adrenoleukodystrophy; hyporcotisolism; pericardial effusion.

Publication types

Case Reports