Pediatric emergency medicine trisk 649

CLINICAL PEARLS AND PITFALLS
The National Newborn Screening and Global Resource Center,
NNSGRC, maintains a website with details on specific tests performed
in each state. Available at />The American College of Medical Genetics and Genomics (ACMG)
provides newborn screening ACT sheets with confirmatory algorithms.
These are designed as educational resources for use in neonates
presenting with abnormal screening results and concern for
endocrinopathies, hemoglobinopathies, genetic conditions, and
metabolic disorders. Available at />Suspect hemoglobinopathies in neonates presenting with swollen
hands and/or feet and confirm by sending blood test during the ED
visit.
Newborn blood spot screening tests can be divided into four broad categories:
metabolic, endocrine, hemoglobinopathies, and others. Metabolic disorders are
typically subdivided into organic acid disorders, fatty acid oxidation disorders,
and amino acid disorders. Endocrine screening tests include congenital
hypothyroidism and congenital adrenal hyperplasia. Hemoglobinopathy screening
tests include sickle cell anemia, sickle beta thalassemia, and S/C disease. The
“other” category includes classic galactosemia, cystic fibrosis, severe combined
immunodeficiencies, and biotinidase deficiencies.
Newborns with abnormal screening results can present asymptomatically, with
parents and provider requesting confirmation of abnormal results, or with
nonspecific signs like poor feeding, or lethargy, or may present in extremis, with
seizures, encephalopathy, or in shock. Parents may not volunteer results of
screening examination at triage, so abnormal screening results should always be
on the differential diagnosis of sick neonates.
Inborn error of metabolism should be considered in neonates presenting with
altered mental status, vomiting, diarrhea, metabolic acidosis, hypoglycemia, and
sepsis. Treatment in the ED should be directed at early recognition, stabilization
of the infant, and admission for further care. Such neonates should receive rapid
glucose infusion of 0.5 g/kg with 10% dextrose solutions at 5 mL/kg. Higher
concentrations of dextrose solutions are generally not administered to neonates in

the first month of life because of high solute load and potential for fluid shifts.


Obtain blood glucose, BMP, liver functions, blood gas, and ammonia levels and
admit for further management.
Congenital Adrenal Hyperplasia
Emergency providers should be familiar with the differential diagnosis of adrenal
insufficiency due to congenital adrenal hyperplasia presenting as shock in a
neonate. This diagnosis should be suspected in infants presenting with poor
feeding, vomiting, or lethargy. In the severe, salt-wasting forms, there are
characteristic metabolic derangements of hyponatremia, hyperkalemia, metabolic
acidosis, and hypoglycemia. On physical examination, female infants can exhibit
ambiguous genitalia, depending on degree of virilization, but males usually have
normal-appearing genitalia. Neonates presenting in adrenal crisis will require
urgent intervention. Initial goals include correction of hypotension and
dehydration, reversal of electrolyte and glucose abnormalities, and correction of
cortisol deficiency. Obtain bedside glucose determination. Address hypoglycemia
with 10% dextrose solutions, initial doses of 5 mL/kg. After correcting the
hypoglycemia, a continuous infusion of dextrose should be started. An initial
fluid bolus of normal saline should be given and repeated as necessary to restore
perfusion. Intravenous hydrocortisone should be administered immediately, at an
initial dose of 50 to 100 mg/m2 as an IV bolus (typically 25 mg for infants)
followed by 50 to 100 mg/m2 IV per day divided every 6 hours.
Suggested Readings and Key References
Kemper AR, Mahle WT, Martin GR, et al. Strategies for implementing screening
for critical congenital heart disease. Pediatrics 2011;128(5):e1259–e1267.
Initial Assessment
Levesque BM, Pollack P, Griffin BE, et al. Pulse oximetry: what’s normal in the
newborn nursery? Pediatr Pulmonol 2000;30(5):406–412.
Soghier L, Pham K, Rooney S, eds. Reference Range Values for Pediatric Care .

1st ed. Illinois, IL: AAP Bookstore, Ilk Groove; 2014.
Zubrow AB, Hulman S, Kushner H, et al. Determinants of blood pressure in
infants admitted to neonatal intensive care units: a prospective multicenter
study. Philadelphia Neonatal Blood Pressure Study Group. J Perinatol
1995;15(6):470–479.
Derm/Color Changes


American Academy of Pediatrics, Subcommittee on Hyperbilirubinemia.
Management of hyperbilirubinemia in the newborn infant 35 or more weeks of
gestation. Pediatrics 2004;114:297–316.
Bale JF. Congenital infections. Neurol Clin 2002;20:1039–1060.
Cutaneous disorders of the newborn. In: Paller AS, Mancini AJ, eds. Hurwitz
Clinical Pediatric Dermatology . 3rd ed. Philadelphia, PA: Elsevier Saunders;
2006.
Dennery PA, Seidman DS, Stevenson DK. Neonatal hyperbilirubinemia. N Engl J
Med 2001;344:581–590.
Harriet Lane Handbook: A Manual for Pediatric House Officers (0-323-09644-1,
978-0-323-09644-7 ). 12th ed. Harriet Lane Service (Johns Hopkins Hospital).
Saunder/Elsevier; 2015.
Kimberlin DW. Neonatal herpes simplex infection. Clin Microbiol Rev
2004;17:1–13.
Mansouri A, Lurie AA. Concise review: methemoglobinemia. Am J Hematol
1993;42:7–12.
Sasidharan P. An approach to diagnosis and management of cyanosis and
tachypnea in term infants. Pediatr Clin North Am 2004;51:999–1021.
Jaundice
American Academy of Pediatrics Subcommittee on Hyperbilirubinemia.
Management of hyperbilirubinemia in the newborn infant 35 or more weeks of
gestation. Pediatrics 2014;114(1):297–316.

Brumbaugh D, Mack C. Conjugated hyperbilirubinemia in children. Pediatr Rev
2012;33(7):291–302.
Christensen RD, Henry E. Hereditary spherocytosis in neonates with
hyperbilirubinemia. Pediatrics 2010;125(1):120–125.
Dijk PH, Hulzebos CV. An evidence-based view on hyperbilirubinemia. Acta
Paediatr 2012;101(464):3–10.
Gundur NM, Kumar P, Sundaram V, et al. Natural history and predictive risk
factors of prolonged unconjugated jaundice in the newborn. Pediatr Int
2010;52(5):769–772.
Kaplan M, Bromiker R, Hammerman C. Severe neonatal hyperbilirubinemia and
kernicterus: are these still problems in the third millennium? Neonatology
2011;100(4):354–362.
Lauer BJ, Spector ND. Hyperbilirubinemia in the newborn. Pediatr Rev
2011;32(8):341–349.


Preer GL, Philipp BL. Understanding and managing breast milk jaundice. Arch
Dis Child Fetal Neonatal Ed 2011;96(6):F461–F466.
Riskin A, Cohen K, Kugelman A, et al. Influence of changes in the evaluation of
neonatal jaundice. Am J Perinatol 2014;31(3):203–208.
Soldi A, Tonetto P, Chiale F, et al. Hyperbilirubinemia and management of
breastfeeding. J Biol Regul Homeost Agents 2012;26(3 suppl):25–29.
Wallenstein MB, Bhutani VK. Jaundice and kernicterus in the moderately
preterm infant. Clin Perinatol 2013;40(4):679–688.
Disorders of Head Shape and Size
McLaughlin MR, O’Connor NR, Ham P. Newborn skin: Part II. Birthmarks. Am
Fam Physician 2008;77(1):56–60.
Von der Hagen M, Pivarcsi M, Liebe J, et al. Diagnostic approach to
microcephaly in childhood: a two-center study and review of the literature. Dev
Med Child Neurol 2014;56(8):732–741.

Macrocephaly and Hydrocephalus
Bloom J. Macrocephaly in infants and children: Etiology and evaluation.
UpToDate
(serial
online);
2014.
Available
at
. Updated March 13, 2014. Accessed February 27,
2015.
Cohen A. Disorders of head shape and size. In: Fanaroff M, eds. Neonatal
Perinatal Medicine . 8th ed. Philadelphia, PA: Mosby; 2006:998–999.
Incorpora G, Pavone P, Platania N, et al. Vein of Galen malformation and
infantile spasms. J Child Neurol 1999;14(3):196–198.
Vertinsky AT, Barnes PD. Macrocephaly, increased intracranial pressure, and
hydrocephalus in the infant and young child. Top Magn Reson Imaging
2007;18(1):31–51.
Craniosynostosis
Blaser SI. Abnormal skull shape. Pediatr Radiol 2008;38(suppl 3):S488–S496.
Shweikeh F, Nuño M, Danielpour M, et al. Positional plagiocephaly: an analysis
of the literature on the effectiveness of current guidelines. Neurosurg Focus
2013;35(4):E1.
Birth Injuries
Broussard AB, Borazjani JG. The faces of Moebius syndrome: recognition and
anticipatory guidance. MCN Am J Matern Child Nurs 2008;33(5):272–278;