Congenital Adrenal Hyperplasia, a mimicry of neonatal sepsis

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.