X-linked adrenoleukodystrophy with an atypical radiological pattern
Por:
Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C
Publicada:
1 abr 2018
Resumen:
Introduction. X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It is due to a mutation in the ABCD1 gene. The loss of functioning of ABCD1 triggers ineffective beta oxidation of very long-chain fatty acids, which gives rise to an accumulation of these fatty acids. The typical alteration revealed in neuroimaging scans in the cerebral form is symmetrical periventricular demyelination with posterior location.
Case report. We report the case of a 10-year-old boy with right spastic hemiparesis and subacute cognitive impairment. Magnetic resonance imaging of the brain showed symmetrical involvement of the white matter in the left frontoparietotemporal region, and calcifications were observed in the computerised axial tomography scan. X-ALD was confirmed by means of the elevated levels of very long-chain fatty acids, and a pathogenic variant was found in the ABCD1 gene.
Conclusions. Symmetrical demyelination with calcifications has rarely been reported in X-ALD, and these findings could delay diagnosis. This exceptional presentation should always be taken into consideration in children with subacute onset of motor symptoms and cognitive or behavioural regression.
Filiaciones:
Ulate-Campos A:
CIBERER. Centro de Investigacion Biomedica en Red-Enfermedades Raras, Barcelona, Espana
Hospital Sant Joan de Deu, Esplugues de Llobregat, Espana
Hospital Nacional de Ninos , San Jose, Costa Rica
Petanas-Argemi J:
CIBERER. Centro de Investigacion Biomedica en Red-Enfermedades Raras, Barcelona, Espana
Hospital Sant Joan de Deu, Esplugues de Llobregat, Espana
Rebollo M:
Hospital Sant Joan de Deu, Esplugues de Llobregat, Espana
Jou-Munoz C:
Hospital Sant Joan de Deu, Esplugues de Llobregat, Espana
Sierra-March C:
CIBERER. Centro de Investigacion Biomedica en Red-Enfermedades Raras, Barcelona, Espana
Hospital Sant Joan de Deu, Esplugues de Llobregat, Espana
Armstrong-Moron J:
CIBERER. Centro de Investigacion Biomedica en Red-Enfermedades Raras, Barcelona, Espana
Hospital Sant Joan de Deu, Esplugues de Llobregat, Espana
Fons-Estupina C:
CIBERER. Centro de Investigacion Biomedica en Red-Enfermedades Raras, Barcelona, Espana
Hospital Sant Joan de Deu, Esplugues de Llobregat, Espana
Open Access
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