Easily misdiagnosed X-linked adrenoleukodystrophy.
Qiu-Hong WangYang-Yang WangJing WangLi-Ying LiuJing GaoGuo-Zhen HaoChen ChenQian LuShuo DunQi ZhangLi-Ping ZouPublished in: Italian journal of pediatrics (2024)
Patients with only symptoms of adrenal insufficiency cannot be simply clinically diagnosed with Addison's disease. Being alert to the possibility of ABCD1 variation is necessary, and complete genetic testing is needed as soon as possible to identify X-ALD (Addison's-only) early to achieve regular monitoring of the disease and receive treatment early. In addition, infection, as a hit factor, may aggravate demyelinating lesions of CCALD. Thus, patients should be protected from external environmental factors to delay the progression of cerebral adrenoleukodystrophy.