Childhood Cerebral Form of X-Linked Adrenoleukodystrophy: A Case Report

Armand Shehu ^[4] | Kristi Aleksi ^[3] | AferditaTakoKumaraku | Aida Bushati ^[6]

Abstract: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disorder caused by a variant of the ABCD1 gene in the long arm of the X chromosome. It is caused by deficiency or dysfunction of the adrenoleukodystrophyprotein (ALDP) which inhibits very long-chain fatty acids (VLCFA) breakdown and causes the accumulation of VLCFA in tissues throughout the body, including the neuronal and adrenal tissue. The childhood cerebral form, marked by quickly progressing neurological decline, is the most prevalent phenotype in young boys, linked to significant morbidity and mortality. Herein we present a pediatric patient with this condition.

Keywords: X-linked adrenoleukodystrophy, X-ALD, adrenoleukodystrophy, cerebral adrenoleukodystrophy, childhood cerebral form

Edition: Volume 11 Issue 11, November 2022,

Pages: 868 - 871