Journal
CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY
Volume 42, Issue 5, Pages E77-E82Publisher
ELSEVIER MASSON, CORPORATION OFFICE
DOI: 10.1016/j.clinre.2018.03.012
Keywords
Hemophagocytic lymphohistiocytosis; Early onset lysosomal acid lipase deficiency; Wolman disease; Hepatosplenomegaly; Neonatal cholestasis; Sebelipase alfa
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Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocytosis (HLH), but progressed to cholestasis and liver failure. Early onset lysosomal acid lipase deficiency (EO-LAL-D) was suspected due to lymphocytes with cytoplasmic vacuolation and/or adrenal calcifications and confirmed by enzymatic and genetic analysis. Enzyme replacement therapy with sebelipase alfa was implemented, but both children died, despite initial improvement. Since this inborn error of metabolism progresses rapidly in infants, early diagnosis is crucial, and appropriate treatment should be started as soon as possible. The authors suggest that the diagnosis of EO-LAL-D should be considered in infants with symptoms of HLH. (c) 2018 Elsevier Masson SAS. All rights reserved.
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