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Clin Res Hepatol Gastroenterol. 2018 Oct;42(5):e77-e82. doi: 10.1016/j.clinre.2018.03.012. Epub 2018 Apr 26.

Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa.

Author information

1
Gastroenterology unit, Pediatrics Division, Child and Adolescent Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto, Largo da Maternidade, 4050-651 Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, Porto, Portugal. Electronic address: ermelinda.dia@chporto.min-saude.pt.
2
Department of Gastroenterology, Hepatology, Nutritional Disorders and Paediatrics, Children's Memorial Health Institute, Warsaw, Poland. Electronic address: majaklaudel@gmail.com.
3
Department of Gastroenterology, Hepatology, Nutritional Disorders and Paediatrics, Children's Memorial Health Institute, Warsaw, Poland. Electronic address: agnieszkabakula@gmail.com.
4
Pediatrics Division, Instituto Português de Oncologia do Porto, Portugal. Electronic address: tereza.oliva@sapo.pt.
5
Laboratorial Hematology Division, Instituto Português de Oncologia, Porto, Portugal. Electronic address: tmmsousa@gmail.com.
6
Pediatric Intensive Care Division, Child and Adolescent Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto, Portugal. Electronic address: directora.scip@chporto.min-saude.pt.
7
Department of Paediatrics, Nutrition and Metabolic Disorders, Children's Memorial Health Institute, Warsaw, Poland. Electronic address: a.tylki@czd.pl.
8
Research Centre for Medical Genetics, Moscow, Russia. Electronic address: elenakamenec@yandex.ru.
9
Instituto de Ciências Biomédicas Abel Salazar, Porto, Portugal; Metabolic Diseases Unit, Pediatrics Division, Child and Adolescent Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto, Portugal. Electronic address: esmeralda.g.martins@gmail.com.
10
Department of Gastroenterology, Hepatology, Nutritional Disorders and Paediatrics, Children's Memorial Health Institute, Warsaw, Poland. Electronic address: p.socha@ipczd.pl.

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.

KEYWORDS:

Early onset lysosomal acid lipase deficiency; Hemophagocytic lymphohistiocytosis; Hepatosplenomegaly; Neonatal cholestasis; Sebelipase alfa; Wolman disease

PMID:
29705274
DOI:
10.1016/j.clinre.2018.03.012
[Indexed for MEDLINE]

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