PDF(Pubmed)
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.
METHODS: 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.
METHODS: 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.
摘要：
背景：X连锁肾上腺脑白质营养不良（X-ALD）是归因于ABCD1突变的最常见的过氧化物酶体疾病。很少有主要脑干受累的病例报告。
方法：在本研究中，我们报道了一名X-ALD的高原男性工人，其特征是进行性虚弱伴有步态不稳定，轻度眼球震颤,还有便秘.发病2年后,脑部磁共振成像(MRI)扫描未显示异常,但遗传分析显示ABCD1基因存在杂合突变(c.1534G>A).发病7年后，尽管患者在疾病过程中给予了积极的饮食和对症治疗，脑部MRI扫描显示主要是脑干损伤,但是血清中长链脂肪酸的浓度是正常的,他因严重的膀胱功能障碍卧床不起近2年，迫使他做膀胱造口术.患者出院，尿潴留和肾功能改善。
结论：我们报道了一例X-ALD患者，其ABCD1变异以脑干损伤为特征，并对其临床表现进行了回顾性总结，MRI特征,X-ALD患者脑干损伤的遗传特征。
方法：在本研究中，我们报道了一名X-ALD的高原男性工人，其特征是进行性虚弱伴有步态不稳定，轻度眼球震颤,还有便秘.发病2年后,脑部磁共振成像(MRI)扫描未显示异常,但遗传分析显示ABCD1基因存在杂合突变(c.1534G>A).发病7年后，尽管患者在疾病过程中给予了积极的饮食和对症治疗，脑部MRI扫描显示主要是脑干损伤,但是血清中长链脂肪酸的浓度是正常的,他因严重的膀胱功能障碍卧床不起近2年，迫使他做膀胱造口术.患者出院，尿潴留和肾功能改善。
结论：我们报道了一例X-ALD患者，其ABCD1变异以脑干损伤为特征，并对其临床表现进行了回顾性总结，MRI特征,X-ALD患者脑干损伤的遗传特征。
