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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 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. Title: Adrenoleucodistrofia ligada al X con patron radiologico atipico.
Se debe a una mutacion en el gen ABCD1. La perdida de la funcion de ABCD1 provoca una betaoxidacion inefectiva de los acidos grasos de cadena muy larga, lo que provoca la acumulacion de estos acidos grasos. La alteracion tipica en la neuroimagen en la forma cerebral es la desmielinizacion periventricular simetrica y de localizacion posterior. Caso clinico. La resonancia magnetica cerebral mostro afectacion asimetrica de la sustancia blanca en la region frontoparietotemporal izquierda, y en la tomografia axial computarizada se visualizaban calcificaciones.
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Create a file for external citation management software Create file Cancel. Full-text links Cite Favorites. Abstract in English , Spanish. Benzoni C, et al. PMID: Wang J, et al. Medicine Baltimore.
Ozdemir Kutbay N, et al. Neuro Endocrinol Lett. Aubourg P. Ann Endocrinol Paris. Epub May PMID: Review. Pathophysiology of X-linked adrenoleukodystrophy. Berger J, et al.
Epub Dec 4. Show more similar articles See all similar articles. Publication types Case Reports Actions. Bone Marrow Transplantation Actions. Child Actions. Combined Modality Therapy Actions. Fatal Outcome Actions. Humans Actions. Male Actions. Hydrocortisone Actions.
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[X-linked Adrenoleukodystrophy: A Report of Three Cases. The Importance of Early Diagnosis]
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 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-linked Adrenoleukodystrophy With an Atypical Radiological Pattern]
J Child Dev Disord. The patient initially presented with neuropsychiatric symptoms characterized by impulsiveness, hyperactivity, and loss of reading and writing abilities. MRI scan showed a frontal involvement of both cerebral hemispheres. Based on this experience, we recommend that patients with hyperactivity and impulsiveness, and loss of previously acquired abilities such as reading and writing should be thoroughly evaluated to rule out the presence of X-ALD. After making the diagnosis with a complete serum fatty acid profile accompanied by the radiologic findings aforementioned, the patient underwent bone marrow transplant, without a favorable outcome after one year of follow-up.