We cared for a term male infant born to Burmese immigrants. At about 24 hours a total serum bilirubin (TSB) was 9.3 mg/dL, and phototherapy was begun. It was stopped 48 hours later, with a TSB of 10.9 mg/dL, and he was discharged from the hospital with an appointment for a repeat TSB check 48 hours later. A few hours before the appointment he became listless and apneic, and his parents took him to the emergency department of the regional children’s hospital, where sepsis was suspected. The TSB was 41 mg/dL. He died 4 hours later, despite intensive care efforts, with opisthotonus and refractory hypotension. Blood drawn before the exchange transfusion had low glucose-6-phosphate dehydrogenase (G6PD) enzymatic activity, and sequencing of the G6PD gene revealed the G6PD Mahidol mutation (c.487G>A). Cultures and postmortem examination did not demonstrate an infectious process, but kernicterus was present. Acute kernicterus can mimic septic shock.
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December 2013
Case Report|
December 01 2013
Neonatal Death Suspected To Be From Sepsis Was Found To Be Kernicterus With G6PD Deficiency
Robert D. Christensen, MD;
aWomen and Newborns Program, Intermountain Healthcare, Salt Lake City, Utah;
Address correspondence to Robert D. Christensen, MD, Intermountain Healthcare, 4401 Harrison Blvd, Ogden, UT 84403. E-mail: [email protected]
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Hassan M. Yaish, MD;
Hassan M. Yaish, MD
Departments of bPediatrics,
cDivision of Hematology/Oncology,
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Susan E. Wiedmeier, MD;
Susan E. Wiedmeier, MD
Departments of bPediatrics,
dDivision of Neonatology, and
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N. Scott Reading, PhD;
N. Scott Reading, PhD
eSpecial Genetics Laboratory, ARUP Laboratories, Salt Lake City, Utah
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Theodore J. Pysher, MD;
Theodore J. Pysher, MD
fPathology, and
gDivision of Hematology/Oncology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah;
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Cheryl Ann Palmer, MD;
Cheryl Ann Palmer, MD
fPathology, and
gDivision of Hematology/Oncology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah;
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Josef T. Prchal, MD
Josef T. Prchal, MD
fPathology, and
gDivision of Hematology/Oncology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah;
eSpecial Genetics Laboratory, ARUP Laboratories, Salt Lake City, Utah
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Address correspondence to Robert D. Christensen, MD, Intermountain Healthcare, 4401 Harrison Blvd, Ogden, UT 84403. E-mail: [email protected]
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
Pediatrics (2013) 132 (6): e1694–e1698.
Article history
Accepted:
July 16 2013
Citation
Robert D. Christensen, Hassan M. Yaish, Susan E. Wiedmeier, N. Scott Reading, Theodore J. Pysher, Cheryl Ann Palmer, Josef T. Prchal; Neonatal Death Suspected To Be From Sepsis Was Found To Be Kernicterus With G6PD Deficiency. Pediatrics December 2013; 132 (6): e1694–e1698. 10.1542/peds.2013-1030
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Comments
Recognition of unexpected hemolysis in initial management of neonatal jaundice
We are writing about two case reports1.2 of kernicterus published in Pediatrics. In the most recent case report1 a newborn with G6PDH deficiency had a peak bilirubin of 41 mg/dl. In the earlier case report2 a newborn with ABO incompatibility and a mutation in the SLC4A1 gene had a peak bilirubin of 41.7 mg/dl. In both cases the newborns had early onset jaundice requiring phototherapy but the contribution of hemolysis was not initially recognized. The initial evaluation did not include a reticulocyte count and complete blood count with smear (CBC/smear) which is suggested by the American Academy of Pediatrics (AAP) guidelines3. While a reticulocyte count and CBC/smear do not provide definitive confirmation of hemolysis4, if the results of these tests are abnormal they can assist practitioners in recognizing potential underlying risk factors for hyperbilirubinemia. As noted by the authors in the most recent report1, had the presence of hemolysis been recognized outpatient management could have been modified.
In our own institution we have noted that clinicians may not be cognizant of a hemolytic process when evaluating the initial screening bilirubin. This affects management of jaundice both in the newborn nursery and after discharge, with the potential for development of severe hyperbilirubinemia. Therefore, we currently utilize the following action grid for reflex laboratory evaluation of screening transcutaneous bilirubin (TcB) results when plotted on the Bhutani nomogram5.
TABLE 1 Action Grid for Reflex Laboratory Evaluation
Use of this action grid helps our staff recognize the potential risk for hemolysis and select the correct treatment curve on the AAP phototherapy nomogram3. This information is critical for the timely institution of phototherapy and for determining a safe interval for reassessment of a discharged neonate.
The CDC and AAP have identified kernicterus as an event that should be universally preventable. To achieve this goal, hospitals must develop standardized protocols that facilitate clinicians in implementing all aspects of the AAP guidelines. Additionally, when faced with early onset jaundice or a slow response to phototherapy clinical diligence in the evaluation of hyperbilirubinemia is particularly important.
Tina Gartley, MD
Joel L. Bass, MD
(1) Christensen RD, Yaish HM, Wiedmeier SE, et al. Neonatal Death suspected to be from sepsis was found to be kernicterus with G6PD deficiency. Pediatrics. 2013;132:e1694-e1698
(2) Christensen RD, Yaish HM, Nussenzveig RH, et al. Acute Kernicterus in a neonate with O/B Blood Group Incompatibility and a Mutation in SLC4A1. Pediatrics. 2013;132:e531-e534
(3) American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2004;114(1):297-316
(4) Newman TB, Easterling MJ. Yield of reticulocyte counts and blood smears in term infants. Clin Pediatr (Phila). 1994;33:71-76
(5) Bhutani VK, Johnson L, Sivieri EM. Predictive ability of a predischarge hour-specific serum bilirubin for subsequent significant hyperbilirubinemia in healthy term and near-term newborns. Pediatrics. 1999;103:6-14
Conflict of Interest:
None declared
Comments on this case report
1. Hyperbilirubinemia guidelines by the American Academy of Pediatrics (reference 1 in this case report) states that "To avoid confusion and encourage greater consistency in the literature, the committee recommends that in infants the term "acute bilirubin encephalopathy" be used to describe the acute manifestations of bilirubin toxicity seen in the first weeks after birth and that the term "kernicterus" be reserved for the chronic and permanent clinical sequelae of bilirubin toxicity." Despite that the authors have used "kernicterus" interchangeably with "acute bilirubin encephalopathy" which create confusion for readers.
2. This case can also be considered an ABO-incompatibility (mother blood group O, infant B) with negative direct antiglobulin test (DAT).1 Perhaps that was the reason for intravenous immunoglobulin (IVIG). However, to the best of my knowledge, there is no a randomized control trial evaluated IVIG for ABO-incompatibility with negative DAT. There is no evidence that isoimmunization is the cause for hyperbilirubinemia when DAT is negative.2 Rather, it has been shown mutations in uridine- diphosphate glucuronosyltransferase (UGT1A1) gene may be the cause for hyperbilirubinemia in ABO-incompatibility with negative DAT.1 Therefore, it remains unclear what was the justification of giving IVIG. Similar to ABO-incompatibility with negative DAT, G6PD deficient neonates may also have severe hyperbilirubinemia, if they have a concurrent mutation of UGT1A1.1 Therefore, Testing for mutations of UGT1A1 is necessary here.
3. The sudden hypoxia is not explained in a sense that the capillary blood gas was quiet acceptable. Therefore, temporal relation between IVIG administration and the hypoxia is important as IVIG is reported to cause acute lung injury.3 It would be more informative if cardiac autopsy findings were included.
References
1. Stevenson D, Maisels J, Watchko J. Care of the Jaundiced Neonate: Mcgraw-hill; 2012.
2. Herschel M, Karrison T, Wen M, Caldarelli L, Baron B. Isoimmunization Is Unlikely to Be the Cause of Hemolysis in ABO- Incompatible but Direct Antiglobulin Test-Negative Neonates. Pediatrics. 2002;110(1):127-130.
3. Gupta V, Gupta P, Yadav T. Transfusion Related Acute Lung Injury with Intravenous Immunoglobulin. Indian Pediatr. 2011;48(10):807-808.
Conflict of Interest:
None declared