Pediatric Endocrinology, Emory University School of Medicine, Atlanta, Georgia, USA
Pediatric Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
BMJ Case Rep. 2022 Aug 10;15(8):e249905. doi: 10.1136/bcr-2022-249905.
Recurrent episodes of vomiting and diarrhoea in a child can present as a diagnostic dilemma and be easily misdiagnosed as recurrent viral gastroenteritis episodes. Primary adrenal insufficiency can present with recurrent episodes of vomiting and diarrhoea with the presence of metabolic acidosis and can be life-threatening if left undiagnosed and untreated. A high index of suspicion should be kept for diagnosing primary adrenal insufficiency in a child presenting with recurrent episodes of vomiting and diarrhoea with laboratory evidence of metabolic acidosis and hypoglycaemia. Primary adrenal insufficiency, in a male child specifically, should raise alarm for X-linked adrenoleukodystrophy (X-ALD). Very-long-chain fatty acids and confirmatory genetic testing for an gene mutation can help confirm the diagnosis. Addison's disease often presents prior to the onset of the cerebral form of X-ALD. Early diagnosis of X-ALD allows for MRI screening for the development of cerebral disease in its early stages when treatment with stem cell transplant can halt the disease and be lifesaving.
儿童反复出现呕吐和腹泻可能会带来诊断上的困境，并且很容易误诊为反复病毒性胃肠炎发作。原发性肾上腺功能不全可表现为反复呕吐和腹泻，伴有代谢性酸中毒，如果未被诊断和治疗，可能会危及生命。对于反复出现呕吐和腹泻、实验室检查有代谢性酸中毒和低血糖的儿童，应高度怀疑原发性肾上腺功能不全。在男性儿童中，特别是如果存在 X 连锁肾上腺脑白质营养不良（X-ALD），更应引起警惕。极长链脂肪酸和确证性基因检测有助于明确 基因的突变，从而帮助确认诊断。Addison 病通常在 X-ALD 的脑型出现之前发生。早期诊断 X-ALD 可以进行 MRI 筛查，以便在疾病早期阶段进行干细胞移植治疗，从而阻止疾病进展并挽救生命。
