出生神经母细胞瘤呈现为严重的新生儿代谢酸性症与全身高血压:病例报告
H F Morris1, S Sran1
1Children's National Hospital, George Washington School of Medicine & Health Sciences, Washington, DC, USA.
Journal of neonatal-perinatal medicine
|September 18, 2023
概括
先天性神经母细胞瘤是新生儿崩的罕见原因,呈现多器官衰竭和代谢性酸症. 早期诊断对于在受影响的新生儿中进行拯救生命的干预至关重要.
科学领域:
- 新生儿医学 新生儿医学
- 儿科瘤学 儿科瘤学
- 医学遗传学 医学遗传学
背景情况:
- 新生儿临床崩通常是由于败血症,分娩问题,心脏缺陷或代谢障碍造成的.
- 先天性神经母细胞瘤是严重新生儿疾病的罕见但关键原因.
- 这一案例突出了一个新生儿出现呼吸,心脏和肝功能衰竭.
研究的目的:
- 报告一种罕见的先天性神经母细胞瘤病例,呈现为新生儿临床崩.
- 强调考虑新生儿神经母细胞瘤的重要性,这些新生儿有不明原因的多器官衰竭和代谢障碍.
- 为了强调对围产神经母细胞瘤的及时诊断和干预的需要.
主要方法:
- 评估了一名患有严重呼吸,心脏和肝功能衰竭的婴儿.
- 对于败血症和心脏问题的标准检查结果是负的.
- 尿液HVA (homovanillic acid) 和VMA (vanillylmandelic acid) 的升高促使进一步调查,导致成像显示出与神经母细胞瘤一致的左上腺质量.
主要成果:
- 新生儿表现出严重的代谢酸和全身高血压.
- 诊断工作显示神经母细胞瘤代谢产物 (HVA和VMA) 的水平升高.
- 影像检查证实了大量的左上腺体,诊断为神经母细胞瘤.
结论:
- 神经母细胞瘤可以在围产期表现出来,需要紧急的医疗干预.
- 临床医生应该怀疑新生儿的神经母细胞瘤与败血症类似的表现,严重的代谢性酸和高血压没有明确的原因.
- 临产期神经母细胞瘤的早期识别和治疗对于患者的生存至关重要.
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