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 http://genes-r-us.uthscsa.edu/sites/genes-rus/files/nbsdisorders.pdf 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 https://www.acmg.net/ACMG/MedicalGenetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx 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 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 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 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 http://www.uptodate.com/contents/macrocephaly-in-infants-and-childrenetiology-and-evaluation 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; ... 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... 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... 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