A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report
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Le résumé fourni par la source
RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene leading to very long chain fatty acid (VLCFA) accumulation. The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN). We aimed to identify the genetic basis of disease in a patient presenting with AMN features in order to confirm the diagnosis, expand genetic knowledge of ABCD1 mutations, and elucidate potential genotype-phenotype associations to inform management. PATIENT CONCERNS: A 29-year-old male presented with a 4-year history of progressive spastic paraplegia, weakness of lower limbs, fecal incontinence, sexual dysfunction, hyperreflexia, and positive Babinski and Chaddock signs. DIAGNOSES: Neuroimaging revealed brain white matter changes and spinal cord thinning. Significantly elevated levels of hexacosanoic acid (C26:0) and tetracosanoic acid (C24:0) suggested very long chain fatty acids (VLCFA) metabolism disruption. Genetic testing identified a novel hemizygous ABCD1 mutation c.249dupC (p.F83fs). These findings confirmed a diagnosis of X-linked ALD with an AMN phenotype. INTERVENTIONS: The patient received dietary counseling to limit VLCFA intake. Monitoring for adrenal insufficiency and consideration of Lorenzo's oil were advised. Genetic counseling and testing were offered to at-risk relatives. OUTCOMES: At present, the patient continues to experience progressive paraplegia. Adrenal function remains normal thus far without steroid replacement. Family members have undergone predictive testing. LESSONS: This case expands the known mutation spectrum of ABCD1-linked X-ALD, providing insight into potential genotype-phenotype correlations. A thoughtful diagnostic approach integrating clinical, biochemical and genetic data facilitated diagnosis. Findings enabled genetic counseling for at-risk relatives regarding this X-linked disorder.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report
- Date Crossref
- 19/04/2024
- Éditeur
- Ovid Technologies (Wolters Kluwer Health)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Union Hospital Department of Neurology pays non établi dans la noticeÉtablissement de santé
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Jilin University pays non établi dans la noticeUniversité ou école supérieure
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103:16(e37874) pays non établi dans la noticeInstitution
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All data generated or analyzed during this study are included in this published article [and its supplementary information files] pays non établi dans la noticeEntreprise
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How to cite this article: Liu J pays non établi dans la noticeInstitution
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Informed consent for publication was obtained from the patient pays non établi dans la noticeInstitution
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Supplemental Digital Content is available for this article pays non établi dans la noticeInstitution
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The patient granted permission to the authors and their institution to use his anonymized medical information to publish a case report in a medical journal. Written consent for publication was obtained from the patient. According to the regulations of the authors' institution pays non établi dans la noticeStructure de recherche
Department of Neurology — Union Hospital, Jilin University et 103:16(e37874), avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.