Lysosomal acid lipase deficiency in pediatric patients: a scoping review

Abstract Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D in pediatric patients through a scope review. Sources: Electronic searches in the Embase, PubMed, Livivo, LILACS, Web of Science, Scopus, Google Scholar, Open Gray, and ProQuest Dissertations and Theses databases. The dataset included observational studies with clinical and laboratory characteristics of infants, children and adolescents diagnosed with lysosomal acid lipase deficiency by enzyme activity testing or analysis of mutations in the lysosomal acid lipase gene (LIPA). The reference selection process was performed in two stages. The references were selected by two authors, and the data were extracted in June 2020. Summary of the findings: The initial search returned 1593 studies, and the final selection included 108 studies from 30 countries encompassing 206 patients, including individuals with Wolman disease and cholesteryl ester storage disease (CESD). The most prevalent manifestations in both spectra of the disease were hepatomegaly, splenomegaly, anemia, dyslipidemia, and elevated transaminases. Conclusions: Vomiting, diarrhea, jaundice, and splenomegaly may be correlated, and may serve as a starting point for investigating LAL-D. Familial lymphohistiocytosis should be part of the differential diagnosis with LAL-D, and all patients undergoing upper gastrointestinal endoscopy should be submitted to intestinal biopsy.

Cholesterol ester storage disease: a reported case.

Cholesterol ester storage disease is a rare autosomal recessive disease which is characterized by accumulation of cholesterol esters and triglycerides in the hepatocytes and other tissues. A 5-year and 4-month old Thai female with hepatosplenomegaly and hypercholesterolemia was diagnosed to have this disease by light and electron microscopic studies of the liver tissue from open biopsy. Early diagnosis and treatment with appropriate drug can help the patient by delaying the consequent complications. Genetic counselling and simplified explanation of the disease are a benefit to the patient's family.

Cholesterylester storage disease: report of a case

A doença de depósito de ésteres de colesterol é uma doença familiar caracterizada pelo acúmulo de ésteres de colesterol e de triglicérides no figado, intestino e medula óssea. Até o momento, apenas 21 casos foram publicados. Apresenta-se uma menina de 9 meses de idade que procurou médico por um aumento do volume abdominal. Suas provas de funçäo hepática estavam normais e apresentava níveis séricos elevado de colesterol total e de triglicérides. A biopsia de fígado examinada com luz polarizada mostrou presença de muitos cristais de colesterol. Este é o paciente diagnosticado em mais jovem idade na literatura (excetuados os casos diagnosticados por autopsia)