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Updated: Jun 22, 2025
10:30
Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
Published on: May 24, 2016
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Easily misdiagnosed X-linked adrenoleukodystrophy
Qiu-Hong Wang1,2, Yang-Yang Wang1, Jing Wang1
1Senior Department of Pediatrics, the Seventh Medical Center of Chinese PLA General Hospital, Beijing, 100010, China.
Italian Journal of Pediatrics
|July 3, 2024
Summary
Early genetic testing is crucial for X-linked adrenoleukodystrophy (X-ALD) presenting as Addison's disease, preventing misdiagnosis and enabling timely treatment. Infections can accelerate neurological symptoms in X-ALD patients.
Area of Science:
- Endocrinology and Genetics
- Neurology and Metabolic Disorders
Background:
- Addison's disease is often diagnosed based on pigmentation symptoms.
- X-linked adrenoleukodystrophy (X-ALD) presenting with only adrenal insufficiency (Addison's-only) can be overlooked.
- Delayed diagnosis of X-ALD (Addison's-only) leads to missed opportunities for early intervention.
Purpose of the Study:
- To highlight the importance of distinguishing X-ALD (Addison's-only) from Addison's disease.
- To report on two cases initially diagnosed with Addison's disease who were later diagnosed with X-ALD.
- To emphasize the role of genetic testing in early X-ALD diagnosis.
Main Methods:
- Retrospective analysis of X-ALD patients.
- Collection of clinical, laboratory, and imaging data.
- Whole-exome sequencing for molecular genetic analysis.
Main Results:
- Two patients initially diagnosed with Addison's disease showed elevated adrenocorticotropic hormone and pigmentation.
- Both patients rapidly developed neurological symptoms post-infection, with MRI revealing demyelinating lesions.
- Genetic testing identified novel ABCD1 gene variations, confirming X-ALD progressing to childhood cerebral adrenoleukodystrophy (CCALD); infection exacerbated symptoms.
Conclusions:
- Clinical diagnosis of Addison's disease solely on adrenal insufficiency symptoms is insufficient; consider ABCD1 variations.
- Prompt genetic testing is essential for early X-ALD (Addison's-only) identification, enabling monitoring and treatment.
- Infections act as triggers for demyelination in CCALD, necessitating protection from environmental factors to slow disease progression.
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