Abdulhamid Ibrahim, Saadeh Sermin, Cakan Nedim
Pediatric Pulmonary Division, The Carman and Ann Adams Department of Pediatrics, Wayne State University, Children's Hospital of Michigan. 3901 Beaubien BLVD, Detroit, MI 48201, USA.
J Med Case Rep. 2009 Dec 14;3:9329. doi: 10.1186/1752-1947-3-9329.
X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy.
A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation.
The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.
X连锁肾上腺脑白质营养不良会导致神经系统脱髓鞘、肾上腺功能不全以及长链脂肪酸蓄积。大多数患有X连锁肾上腺脑白质营养不良的年轻患者会出现癫痫发作和进行性神经功能缺损，并在生命的头二十年之内死亡。此前尚未有关于X连锁肾上腺脑白质营养不良患者患有先天性或后天性呼吸系统疾病的报道。
一名来自也门的3岁阿拉伯男孩出现黏膜和甲床变色，因高铁血红蛋白血症被认为是发绀。他还出现呼吸急促、疲劳、呕吐及脱水发作，为此入住我院。胸部X线片和胸部计算机断层扫描显示先天性肺腺瘤样畸形。在畸形切除前几周，他出现严重的低血压和低血糖发作。这一情况需要在医院进一步评估，从而诊断为肾上腺功能不全并开始使用皮质类固醇进行治疗。一年后，他出现癫痫发作和意识丧失。其头部磁共振成像显示继发于X连锁肾上腺脑白质营养不良的弥漫性脱髓鞘。他接受了抗癫痫和抗氧化剂治疗，并被转诊进行骨髓移植评估。
肾上腺功能不全、神经功能缺损和癫痫发作是X连锁肾上腺脑白质营养不良的常见表现。先天性肺部疾病与X连锁肾上腺脑白质营养不良或艾迪生病的关联此前尚未见报道。
