Progressive hemiparesis reveals X-linked adrenoleukodystrophy in a 3.5-year-old boy

El Kosseifi, Charbel;Seddiki, Karima;Dumitriu, Dana Ioana;Nassogne, Marie-Cécile
(2021) Acta Neurologica Belgica — Vol. 121, n° 1, p. 261-263 (2021)

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Abstract
(en) X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the ABCD1 gene, encoding the transmembrane ALDP protein and is characterized by progressive nervous system demyelination and adrenal gland dysfunction. While several phenotypes were described in boys and females, the two most important ones include childhood cerebral ALD (CCALD) and adult onset adrenomyeloneuropathy in males. CCALD classically occurs in boys, at 6–9 years of age, presenting with mild neurological or psychiatric signs, with a decline in cognitive performance and school achievement. [...]
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El Kosseifi, C., Seddiki, K., Dumitriu, D. I., & Nassogne, M.-C. (2021). Progressive hemiparesis reveals X-linked adrenoleukodystrophy in a 3.5-year-old boy. Acta Neurologica Belgica, 121(1), 261-263. https://doi.org/10.1007/s13760-020-01306-5 (Original work published 2021)