Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion
نویسندگان
چکیده
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.
منابع مشابه
Isolated pericardial effusion in the human fetus: a report of three cases.
OBJECTIVE Our objective was to determine the possible underlying etiologies and outcome in isolated fetal pericardial effusion. METHODS Doppler fetal echocardiography allowed the diagnosis of pericardial effusion in three patients and revealed the etiology in two. RESULTS We present the findings in three cases of isolated pericardial effusion. In the first, the pericardial effusion was a ma...
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X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100,000. At lea...
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عنوان ژورنال:
دوره 3 شماره
صفحات -
تاریخ انتشار 2015