PDF(Pubmed)
Abstract：
UNASSIGNED: X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder caused by a pathogenic variant of the ABCD1 gene, leading to impaired peroxisomal function and the accumulation of very long-chain fatty acids (VLCFAs). ALD presents a wide range of neurological and adrenal symptoms, ranging from childhood cerebral adrenoleukodystrophy to adrenomyeloneuropathy and adrenal insufficiency. Newborn screening (NBS) for ALD is available in some regions but remains lacking in others, such as India.
UNASSIGNED: We present a case of a 10-year-old boy with ALD who presented with seizures, progressive weakness, visual impairment, and adrenal insufficiency. Despite symptomatic management and dietary adjustments, the disease progressed rapidly, leading to respiratory failure and eventual demise. The diagnosis was confirmed through molecular analysis and elevated VLCFA levels. Neuroimaging revealed characteristic white matter changes consistent with ALD.
UNASSIGNED: ALD is a devastating disease with no cure, emphasizing the importance of early detection through newborn screening and genetic testing. Management strategies include adrenal hormone therapy, gene therapy, and allogenic stem cell transplantation, as well as investigational treatments such as VLCFA normalization. Our case advocates the need for worldwide NBS and pediatric neurologic follow-up to enable early intervention and improve patient outcomes. Additionally, the association between ALD, recurrent febrile seizures, and unexplained developmental delay warrants further investigation to better understand disease progression and potential therapeutic targets.
UNASSIGNED: We present a case of a 10-year-old boy with ALD who presented with seizures, progressive weakness, visual impairment, and adrenal insufficiency. Despite symptomatic management and dietary adjustments, the disease progressed rapidly, leading to respiratory failure and eventual demise. The diagnosis was confirmed through molecular analysis and elevated VLCFA levels. Neuroimaging revealed characteristic white matter changes consistent with ALD.
UNASSIGNED: ALD is a devastating disease with no cure, emphasizing the importance of early detection through newborn screening and genetic testing. Management strategies include adrenal hormone therapy, gene therapy, and allogenic stem cell transplantation, as well as investigational treatments such as VLCFA normalization. Our case advocates the need for worldwide NBS and pediatric neurologic follow-up to enable early intervention and improve patient outcomes. Additionally, the association between ALD, recurrent febrile seizures, and unexplained developmental delay warrants further investigation to better understand disease progression and potential therapeutic targets.
摘要：
■X连锁肾上腺脑白质营养不良（ALD）是由ABCD1基因的致病变体引起的一种罕见的遗传性疾病，导致过氧化物酶体功能受损和非常长链脂肪酸（VLCFAs）的积累。ALD表现出广泛的神经和肾上腺症状，从儿童脑肾上腺脑白质营养不良到肾上腺神经神经病和肾上腺功能不全。某些地区可以进行ALD的新生儿筛查（NBS），但在其他地区仍然缺乏。比如印度。
我们介绍了一个10岁的ALD男孩，他出现了癫痫发作，进步的弱点，视力障碍，肾上腺功能不全.尽管有症状管理和饮食调整，疾病进展迅速，导致呼吸衰竭和最终死亡。通过分子分析和升高的VLCFA水平证实了诊断。神经影像学显示特征性白质变化与ALD一致。
■ALD是一种无法治愈的毁灭性疾病，强调通过新生儿筛查和基因检测早期发现的重要性。管理策略包括肾上腺激素治疗，基因治疗,和同种异体干细胞移植，以及研究性治疗，如VLCFA正常化。我们的案例主张需要全球NBS和儿科神经系统随访，以实现早期干预并改善患者预后。此外,ALD之间的联系，复发性高热惊厥,和无法解释的发育延迟需要进一步研究,以更好地了解疾病进展和潜在的治疗目标.
我们介绍了一个10岁的ALD男孩，他出现了癫痫发作，进步的弱点，视力障碍，肾上腺功能不全.尽管有症状管理和饮食调整，疾病进展迅速，导致呼吸衰竭和最终死亡。通过分子分析和升高的VLCFA水平证实了诊断。神经影像学显示特征性白质变化与ALD一致。
■ALD是一种无法治愈的毁灭性疾病，强调通过新生儿筛查和基因检测早期发现的重要性。管理策略包括肾上腺激素治疗，基因治疗,和同种异体干细胞移植，以及研究性治疗，如VLCFA正常化。我们的案例主张需要全球NBS和儿科神经系统随访，以实现早期干预并改善患者预后。此外,ALD之间的联系，复发性高热惊厥,和无法解释的发育延迟需要进一步研究,以更好地了解疾病进展和潜在的治疗目标.
