X-linked adrenoleukodystrophy: A case of acute childhood cerebral presentation

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease due to a mutation in the ABCD1 gene that leads to the accumulation of very-long-chain fatty acids in tissues. To describe one patient with severe childhood cerebral X-ALD and to analyze his diagnostic process and the rapeutic possibiliti...

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Bibliographic Details
Published in:Andes pediatrica : revista Chilena de pediatría 2021-08, Vol.92 (4), p.602-608
Main Authors: Posada Bustos, Sebastián, Charry Lopez, Marco Luciano, Espinosa García, Eugenia
Format: Article
Language:eng ; spa
Subjects:
Adrenoleukodystrophy - diagnostic imaging
Adrenoleukodystrophy - genetics
ATP Binding Cassette Transporter, Subfamily D, Member 1 - genetics
Child
Fatty Acids - blood
Humans
Magnetic Resonance Imaging
Male
Mutation
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Summary:X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease due to a mutation in the ABCD1 gene that leads to the accumulation of very-long-chain fatty acids in tissues. To describe one patient with severe childhood cerebral X-ALD and to analyze his diagnostic process and the rapeutic possibilities. 7-year-old male child, with a six-month history of decreased visual acuity, learning difficulties due to lack of attention, reading and writing impairment, and social isolation. On physical examination, he presented bilateral decrease in visual acuity, hypoprosexia, hyperpigmented lesions on the hands, and gait abnormality. Brain MRI showed bilateral white mat ter signal alteration in parieto-occipital regions, with 12 points on the Loes' scale. He also presented adrenal insufficiency, meeting clinical criteria for X-ALD. Very-long-chain fatty acid was elevated, confirming the diagnosis. Three months later, the patient progressed to vision loss and inability to walk. MRI was repeated showing 15 points in the Loes' scale due to extensive structural involvement of the central nervous system, with rapidly progressive deterioration. Therefore, he was not consi dered a candidate for bone marrow transplantation. This case of X-ALD was of severe childhood cerebral presentation, with rapid progression. The clinical evaluation and classification of radiological findings according to the Loes' scale should guide the choice of management.
ISSN:2452-6053
DOI:10.32641/andespediatr.v92i4.3345