Congenital Adrenal Hyperplasia, a mimicry of neonatal sepsis

Ocran Akua Afriyie, G. Plange-Rhule, A. Boakye-Yiadom, N. Brobby, Stella B. Adjei
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Abstract

Background Neonatal sepsis is one of the commonest reasons for admission to the neonatal unit. Its non-specific clinical features makes its definition a conundrum for experts. This paves way for several conditions to hide behind the umbrella of neonatal sepsis. One of such conditions is salt-wasting crisis in babies with Congenital Adrenal Hyperplasia. The objective of this abstract is to highlight the importance of a good clinical history, thorough physical examination and investigations to avoid incorrect diagnosis and management of babies with adrenal crisis. Clinical presentation A month-old infant presented with poor feeding, vomiting, fever and seizures. Physical examination revealed high temperature of 38.2 degree Celsius, signs of dehydration, episodes of seizures and lethargy. A diagnosis of neonatal sepsis with differential of neonatal meningitis was made. Empiric antibiotics and supportive therapy with intravenous infusions and anticonvulsants were started. After 24 hours, there was deterioration in baby’s presentation with spiking temperature and progressive lethargy requiring escalation of care.  This prompted further history and examination. Baby had a notably hyperpigmented skin and ambiguous genitalia. The external genitalia was a phallus-like/large clitoris-like structure measuring 1.8cm in length. Urethral meatus was at the base of the phallus – like structure. The sac-like folds in the perineum were fused with no vaginal opening or palpable testes. Biochemical investigations showed hyponatremia (Na-121umol/l), hyperkalaemia(K-6.4umol/l) and 17-hydroxyprogesterone of 1057.5nmol/l (< 18.9nmol/l). The diagnosis was revised to Congenital Adrenal Hyperplasia with salt wasting crisis. The baby underwent aggressive electrolyte correction and was started on high dose steroids. There was remarkable improvement in baby’s condition and was discharged after five days. Conclusion Several conditions can mimic neonatal sepsis therefore the importance of a detailed history and thorough physical examination cannot be over-emphasized.
先天性肾上腺增生症,模仿新生儿败血症
背景:新生儿脓毒症是新生儿住院最常见的原因之一。它的非特异性临床特征使其定义成为专家们的难题。这为隐藏在新生儿败血症背后的几种情况铺平了道路。其中一种情况是先天性肾上腺增生婴儿的盐消耗危机。本摘要的目的是强调良好的临床病史,彻底的体格检查和调查的重要性,以避免错误的诊断和处理婴儿肾上腺危机。临床表现1个月大婴儿,表现为喂养不良、呕吐、发热、癫痫。体格检查发现38.2摄氏度的高温,脱水迹象,癫痫发作和嗜睡。诊断新生儿败血症与新生儿脑膜炎的鉴别作出。开始经验性抗生素和支持治疗,静脉输注和抗惊厥药物。24小时后,婴儿的表现恶化,伴有体温升高和进行性嗜睡,需要进一步的护理。这促使进一步的历史和检验。婴儿皮肤色素沉着,生殖器模糊。外生殖器为阴茎状/大阴蒂状结构,长1.8cm。尿道道位于阴茎状结构的底部。会阴囊状褶皱融合,无阴道口或可触及睾丸。生化检查显示低钠血症(Na-121umol/l)、高钾血症(K-6.4umol/l)和17-羟孕酮1057.5nmol/l (< 18.9nmol/l)。诊断修改为先天性肾上腺增生伴盐消耗危像。婴儿接受了积极的电解质纠正,并开始使用大剂量类固醇。婴儿病情有明显改善,5天后出院。结论新生儿脓毒症可在多种情况下发生,因此详细病史和全面体格检查的重要性再强调也不为过。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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