DOI: 10.36347/sjmcr.2023.v11i06.020

Pages: 1119-1122

An 11-year-old boy was referred to the pediatric ward for regression in school performance and behavioral problems. The clinic has been evolving for two years. Given the clinical deterioration, the patient is treated at the pediatrician. A somatic assessment is performed and highlights lesions of the white matter evoking the diagnosis of X-linked adrenoleukodystrophy (X-ALD), confirmed by the metabolic assessment. No curative treatment will be proposed given the stage of the disease; the patient dies less than two years later. The X-ALD is a degenerative disease of the white matter having a prevalence estimated at 1/20.000 cases worldwide. The mutated gene, located on the long arm of chromosome X, encodes a peroxisomal membrane protein. Over 500 mutations are known and cause a disorder of fatty acids b-oxidation. Several phenotypes exist without phenotype-genotype relationship. The diagnosis of X-ALD is mainly based on brain magnetic resonance and blood very long chain fatty acids (VLCFA) blood level. Allogenic hematopoietic stem cell transplanta-tion, only known cure can be achieved in patients with asymptomatic (from screening) or early stage. Without treatment, the survival prognosis at diagnosis is an average of 3 years. Genetic counseling and screenings (pre-natal, neo-natal and family) are essentials to improve this diagnosis.