X-linked adrenoleukodystrophy: a report of three cases. The importance of early diagnosis

X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive ne...

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Published inArchivos argentinos de pediatría Vol. 115; no. 5; pp. e279 - e281
Main Authors López Úbeda, Marta, de Arriba Muñoz, Antonio, Ferrer Lozano, Marta, Labarta Aizpún, José I, García Jiménez, María C
Format Journal Article
LanguageSpanish
Published Argentina 01.10.2017
Subjects
Adrenoleukodystrophy - diagnosis
Adrenoleukodystrophy - genetics
Child
Child, Preschool
Early Diagnosis
Humans
Infant
Male
Very long-chain fatty acids
Demyelinating diseases
ABCD1
X-linked adrenoleukodystrophy
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Summary:X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:1668-3501
DOI:10.5546/aap.2017.e279