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X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling

Open Access
|Oct 2025

Figures & Tables

Figure 1.

Family pedigree (A) with the Brain MRI Images of the patient showing signal abnormalities in the parieto-temporo-occipital white matter (B).
Family pedigree (A) with the Brain MRI Images of the patient showing signal abnormalities in the parieto-temporo-occipital white matter (B).

Figure 2.

Electropherograms showing the pathogenic variant in the patient in a hemizygous state (A), in a heterozygous state in the mother (B), and the absence of the pathogenic variant in the healthy brother (C).
Electropherograms showing the pathogenic variant in the patient in a hemizygous state (A), in a heterozygous state in the mother (B), and the absence of the pathogenic variant in the healthy brother (C).

Table summarizing the clinical signs of the patient_

Patient symptoms
GenderMale
Age at the diagnosis12
Age at onset10
Initial symptomsAcademic difficulties
Spinal symptomsSpastic paraparesis
Peripheral neuropathyPresent
Cognitive impairmentPresent
Sphincter dysfunctionPresent
hypoadrenocorticismPresent
Muscle strenghIncreased
Tendon reflexesExaggerated
Hoffman signPositive
Babinski signPositive
SensoryNormal
Cerebral involvement in MRIPresent
Spinal involvement in MRIAbsent
Disease progressionRapid
Language: English
Published on: Oct 8, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year

© 2025 M Mansouri, T Smol, N Louhabe, M Rama, N Rada, N Fdil, M Bouskraoui, N Aboussair, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.