ESPE Abstracts

Here we describe a 10 week old previously healthy infant that underwent several severe adrenal crises marked by electrolyte disturbances (K=7.8 Na=128), and cardiorespiratory resuscitation (intubation and pressors). The adrenal insufficiency developed while admitted after developing a short febrile illness, and severe prolonged watery diarrhea, accompanied by development mild hypertransaminasemia and rash. Crises were characterized by elevated Renin 119 mU/l [Ref: 3.4-64], inappropriately normal or moderately elevated aldosterone (10,000, 2,536 pmol/l), that was low between crises (159 pmol/l). Severe crises were preceded by exacerbation of watery diarrhea and moderate to severe dehydration. Of note, one crisis occurred following diarrhea-associated dehydration while on hydrocortisone 50mg/m²/day and fludrocortisone 0.2mg/day. An extensive metabolic work-up was negative, leading to utilizing expedited whole exome sequencing (WES). The WES was negative. Adrenal imaging by U/S and MRI has revealed normal appearance. Work-up for acquired causes of hypoaldosteronism has revealed an active CMV infection (viremia 239,000 copies/ml). Work up for congenital CMV including PCR of blood sample on Guthrie paper collected perinatally, retinal exam, BERA and brain MRI confirmed that her CMV infection was acquired. Work-up for immunodeficiency including HIV serology was negative. CMV-associated adrenal injury is well described in cohorts of patients with HIV. Cytomegalovirus has specific affinity to the adrenal cortex and medulla, however a clinical phenotype will be evident if over 90% of the relevant cell population is impaired. Four cases of neonates/infants with adrenal insufficiency associated with CMV infection were described so far, of which one was in a likely acquired rather than congenital CMV. The patient's partial ability to raise aldosterone has led to assessment for component of aldosterone resistance. Renal U/S revealing no signs of urinary tract obstruction, as well as negative blood and urine cultures have ruled out common acquired causes. A recent case series describes aldosterone resistance in infants with excessive GI losses, thus we suggest that this mechanism may have contributed to the clinical course. Following initiation of Ganciclovir adrenal crises stopped and diarrhea subsided. We therefore discuss the first case of acquired CMV infection in an immunocompetent infant leading to adrenal injury combined with CMV-associated diarrhea associated partial aldosterone resistance.