Kasturba Medical College, Manipal University, Manipal, Karnataka, India
Department of Medicine, Kasturba Medical College Manipal, Manipal University, Manipal, Karnataka, India.
BMJ Case Rep. 2021 Nov 30;14(11):e244757. doi: 10.1136/bcr-2021-244757.
Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the gene on the X chromosome, that affects 1 in 20 000 people. In X linked adrenoleukodystrophy (X-ALD), a defect in lignoceroyl-coenzyme A ligase causes pathognomonic tissue accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex and nervous system. The phenotypic variability ranges from cerebral inflammatory demyelination of childhood onset, leading to death within 5 years, to adults remaining presymptomatic through more than five decades. Our case is that of a man who was previously diagnosed with bipolar affective disorder presented with dystonic posturing. During transit, he had an episode of generalised convulsive status epilepticus. He presented with spasticity and exaggerated reflexes. Three important signs of adrenal insufficiency were observed: hypotension, hyperpigmentation and comatose state. The diagnosis of X-ALD should be considered in young men presenting with gradually progressive unexplained cognitive and behavioural problems, a strong family history, adrenal insufficiency, bilateral upper motor signs with absent ankle reflexes.
肾上腺脑白质营养不良（ALD）是一种 X 连锁隐性遗传疾病，由 X 染色体上的基因异常引起，影响每 20000 人中的 1 人。在 X 连锁肾上腺脑白质营养不良（X-ALD）中，植烷酰辅酶 A 连接酶的缺陷导致非常长链脂肪酸（VLCFA）在肾上腺皮质和神经系统中出现特征性的组织堆积。表型变异性范围从儿童期发病的大脑炎症性脱髓鞘，导致 5 年内死亡，到成年人在超过 50 年的时间内仍然没有症状。我们的病例是一名以前被诊断为双相情感障碍的男性，表现为张力障碍姿势。在转运过程中，他出现了全身性癫痫持续状态发作。他表现为痉挛和反射亢进。观察到三个肾上腺皮质功能不全的重要体征：低血压、色素沉着过度和昏迷状态。对于出现逐渐进展的不明原因认知和行为问题、强烈的家族史、肾上腺皮质功能不全、双侧上运动体征伴踝反射消失的年轻男性，应考虑 X-ALD 的诊断。
