Duke Children's Primary Care, 4020 North Roxboro Street, Durham, NC, 27704, USA.
BMC Pediatr. 2019 Jul 20;19(1):245. doi: 10.1186/s12887-019-1617-1.
This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency, that now has an FDA approved treatment that both reduces recurrence and produces remission.
A 14-month-old female with a history of gross motor delay, frequent Upper Respiratory Tract infections, and otitis media presented to an urgent care for inconsolability and refusal to bear weight on her right leg. She had recently been treated with amoxicillin for acute otitis media and had developed a diffuse maculopapular rash, without any associated respiratory or gastrointestinal distress that persisted beyond cessation of the antibiotics. The patient presented multiple times to an urgent care over the subsequent week for fussiness, fever, anorexia, lymphadenopathy, with labs concerning for worsening anemia and elevated inflammatory markers. Subsequently, the patient was admitted to the hospital for suspected osteomyelitis versus oncologic process. X-Ray imaging of the patient's lower extremities showed osseous abnormalities inconsistent with infection. A metabolic work-up showed elevated urine mevalonic acid, and follow-up genetic testing was positive for mutations in both copies of her mevalonate kinase gene. This led to the diagnosis of MKD.
Often, episodic presentations require multiple perspectives to reveal the underlying cause. This case illustrates how apparent simple febrile episodes has the potential for more complexity upon further evaluation.
本病例报告了一名 14 个月大的女性，尽管多次就诊于多位医生，但仍反复出现发热性发作和粗大运动发育迟缓。她的病例揭示了一种经常被忽视的诊断，即甲羟戊酸激酶缺乏症，现在有一种获得 FDA 批准的治疗方法，既能减少复发，又能产生缓解。
一名 14 个月大的女性，有粗大运动发育迟缓、频繁上呼吸道感染和中耳炎病史，因不安和拒绝负重右腿而到急诊就诊。她最近因急性中耳炎接受了阿莫西林治疗，并出现弥漫性斑丘疹皮疹，没有任何相关的呼吸道或胃肠道不适，在停止抗生素治疗后仍持续存在。在随后的一周内，患者多次因烦躁、发热、食欲不振、淋巴结病就诊于急诊，实验室检查提示贫血恶化和炎症标志物升高。随后，患者因疑似骨髓炎或肿瘤过程住院。患者下肢的 X 射线成像显示骨骼异常与感染不一致。代谢检查显示尿液甲羟戊酸升高，随后的基因检测显示她的甲羟戊酸激酶基因的两个拷贝均有突变。这导致了 MKD 的诊断。
频繁的发作性表现需要从多个角度来揭示潜在的原因。本病例说明了看似简单的发热性发作在进一步评估时可能会有更多的复杂性。
