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Review
. 2024 Jul;12(7):e2499.
doi: 10.1002/mgg3.2499.

Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review

Yulai Kang  1 , Lu Guo  1 , Zhuo Min  1 , Lei Zhang  1 , Lili Zhang  1 , Chunhua Tang  1
Affiliations
Review

Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review

Yulai Kang et al. Mol Genet Genomic Med. 2024 Jul.

Abstract

Background: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare.

Case presentation: In this study, we reported a plateau male worker of X-ALD characterized by progressive weakness accompanied by gait instability, mild nystagmus, and constipation. After 2 years of onset, a brain Magnetic Resonance Image (MRI) scan showed no abnormality but genetic analysis revealed a heterozygous mutation (c.1534G>A) in the ABCD1 gene. After 7 years of onset, although the patient was given aggressive dietary and symptomatic treatment in the course of the disease, a brain MRI scan showed predominantly brainstem damage, but serum concentrations of very long-chain fatty acids were normal, and he had been bedridden for almost 2 years with severe bladder dysfunction, forcing him to undergo cystostomy. The patient was discharged with improved urinary retention and renal function.

Conclusions: We reported an X-ALD patient with a novel ABCD1 variation characterized by brainstem damage and retrospectively summarized the clinical manifestation, MRI features, and genetic features of X-ALD patients with brainstem damage.

Keywords: ABCD1; MRI; X‐linked adrenoleukodystrophy; brainstem; very long‐chain fatty acids.

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Conflict of interest statement

The authors have no competing interests to declare.

Figures

FIGURE 1
FIGURE 1
Magnetic resonance imaging (MRI). (a–c) Axial brain MRI scans showed no obvious abnormalities at five levels: cerebellum, pontocerebellar peduncle, brainstem, midbrain, and internal capsule. a = T1‐weighted MRI, b = T2‐weighted MRI, c = fluid‐attenuated inversion recovery. (d) Saggital spinal cord MRI scans showed no obvious abnormalities.
FIGURE 2
FIGURE 2
Adenosine triphosphate‐Binding Cassette subfamily D, member 1 (ABCD1) gene sequencing of the X‐linked adrenoleukodystrophy patient and his parents. The arrow showed the patient with a missense mutation (c.1534G>A) in the ABCD1 gene, his mother with heterozygous variation at the same spot, and his father with no variation.
FIGURE 3
FIGURE 3
Magnetic resonance imaging (MRI). (a–c) Axial brain MRI scans showed distribution of lesions at five levels: cerebellum, cerebellopontine angle, brainstem, midbrain, and internal capsule. a = T1‐weighted MRI, b = T2‐weighted MRI, c = fluid‐attenuated inversion recovery. (d) Saggital spinal cord MRI scans showed thoracic spinal cord atrophy.
FIGURE 4
FIGURE 4
Baseline features, electrophysiological results, imaging features, and gene variation of 16 patients with X‐linked adrenoleukodystrophy characterized by brainstem symptoms.
FIGURE 5
FIGURE 5
Clinical characteristics of 16 patients with X‐linked adrenoleukodystrophy characterized by brainstem symptoms.
See this image and copyright information in PMC

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