Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa.
Clin Res Hepatol Gastroenterol
; 42(5): e77-e82, 2018 10.
Article
en En
| MEDLINE
| ID: mdl-29705274
ABSTRACT
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Wolman
/
Esterol Esterasa
Tipo de estudio:
Etiology_studies
/
Screening_studies
Límite:
Female
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Humans
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Male
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Newborn
Idioma:
En
Año:
2018
Tipo del documento:
Article