Neonate With Jaundice

Abstract

A 3-day-old male infant presented to the emergency department for jaundice. He was born at 39 weeks of gestation via spontaneous vaginal delivery, with a weight of 3,056 g and Apgar scores of 8 and 9. The mother was 35 years old, and this was her second child after an uneventful pregnancy. He was breastfed 10 times per day, with 4 daily diaper changes. On examination, his vitals were normal, and he interacted well. He had icteric skin over the face, trunk, and legs, with subtle hyperpigmentation of the axilla and scrotum (Figure 1). Initial data demonstrated sodium levels of 133 mEq/L and potassium levels of 5.9 mEq/L. The pediatric emergency physician performed abdominal point-of-care ultrasonography (Figure 2).Figure 2Emergency abdominal ultrasonography shows an enlarged left adrenal gland above the left kidney apex (left panel arrowhead), with a highly coiled-cerebriform appearance resembling cerebral gyri in the suprarenal fossa (left panel arrow). The right adrenal gland was wrinkled and wavy, located above the right kidney apex (right panel arrowhead). Normal thin central echogenic stripe was absent, replaced by diffuse stippled echogenicity surrounded by a hypoechoic rim (right panel arrow).1Al-Alwan I. Navarro O. Daneman D. et al.Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyperplasia.J Pediatr. 1999; 135: 71-75Abstract Full Text Full Text PDF PubMed Scopus (47) Google ScholarView Large Image Figure ViewerDownload Hi-res image Download (PPT) Congenital adrenal hyperplasia. The patient progressed to a sodium level of 131 mEq/L and a potassium level of 6.3 mEq/L the following day. On day 6, screening showed 17-hydroxyprogesterone 65 ng/dL. Additionally, physicians administered fludrocortisone and cortisone acetate with normalization of electrolyte derangement. Final data confirmed 21-hydroxylase deficiency, salt-wasting type congenital adrenal hyperplasia: with 17-OH progesterone levels of 21.9 ng/mL (reference range, 0.49-4.1 ng/mL), and adrenocorticotropic hormone levels of 585.8 pg/mL (reference range, 10-70 pg/mL). Infants with congenital adrenal hyperplasia present perinatally with ambiguous genitalia in females and life-threatening adrenal crisis in males. Although neonatal screening for 21-hydroxylase deficiency minimizes delays in diagnoses, one-third of infants with congenital adrenal hyperplasia were symptomatic when diagnosed,2Pang S.Y. Wallace M.A. Hofman L. et al.Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Pediatrics. 1988; 81: 866-874PubMed Google Scholar with the most severe manifestation being cardiac arrest secondary to hyperkalemia.3Agarwal S. Deshpande G. Agarwal D. et al.Sudden cardiac arrest in a neonate with congenital adrenal hyperplasia.Pediatr Cardiol. 2005; 26: 686-689Crossref Scopus (3) Google Scholar In experienced hands, adrenal ultrasonography has a sensitivity of 92% and specificity of 100% for diagnosing congenital adrenal hyperplasia1Al-Alwan I. Navarro O. Daneman D. et al.Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyperplasia.J Pediatr. 1999; 135: 71-75Abstract Full Text Full Text PDF PubMed Scopus (47) Google Scholar and is a useful adjunct for the rapid diagnosis of adrenal crisis in male infants with congenital adrenal hyperplasia.