Hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis. Pediatr Hematol Oncol 2019 Oct;36(7):451-456
Date
08/20/2019Pubmed ID
31424295Pubmed Central ID
PMC10099790DOI
10.1080/08880018.2019.1654051Scopus ID
2-s2.0-85071390624 (requires institutional sign-in at Scopus site) 4 CitationsAbstract
Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal illness characterized by impaired natural killer (NK) cell and cytotoxic T-cell function. Patients develop systemic inflammation, multisystem organ dysfunction, and if untreated, death. Patients who present in the neonatal period often have atypical presentations with evidence of liver dysfunction and cholestasis; this has a broad differential diagnosis including neonatal infection, congenital liver defects, or other causes of liver dysfunction, such as neonatal hemochromatosis. Here, we present an infant whose diagnosis of familial HLH was confounded by the history of a stillborn sibling with suspected neonatal hemochromatosis, ultimately delaying diagnosis and initiation of curative treatment. This highlights the need to maintain a low threshold for sending HLH work-up concurrently with evaluation of liver diseases in infants with liver dysfunction, to ensure timely diagnosis and initiation of treatment. Clinicians should maintain a high index of suspicion for HLH and be aware that HLH may mimic the findings on liver biopsy seen in neonatal hemochromatosis.
Author List
Broglie L, Vitola B, Thakar MS, Basel D, Szabo S, Agni R, Talano JAAuthors
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinLarisa Broglie MD, MS Assistant Professor in the Pediatrics department at Medical College of Wisconsin
Julie-An M. Talano MD Professor in the Pediatrics department at Medical College of Wisconsin
Bernadette Vitola MD, MPH Associate Professor in the Pediatrics department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Diagnosis, DifferentialHemochromatosis
Humans
Infant
Lymphohistiocytosis, Hemophagocytic
Male
