The digestive function of children with Wolman disease, a very severe form of lysosomal acid lipase deficiency (LAL-D), remains fragile despite treatment, according to a study presented at the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 54th Annual Meeting. In patients with cholesteryl ester storage disease (CESD), which is a more insidious form…
A team of physicians described the early diagnosis and successful long-term care of a patient with severe lysosomal acid lipase deficiency (LAL-D)/Wolman disease from infancy until 5 years of age, as published in the Canadian Liver Journal. The case as described details a female born to healthy French-Canadian parents after an uncomplicated pregnancy. When the…
Rapid whole-genome sequencing (rWGS) should become part of the assessment tools as a possibility of diagnosing pediatric patients with lysosomal acid lipase deficiency (LAL-D) who require intensive care unit (ICU) admission, according to a study recently published in Genome Medicine. “A middle ground approach between the expedited analysis in this and other rWGS studies would…
A new mutation found in the LIPA gene was associated with lysosomal acid lipase deficiency (LAL-D), as published in Research Square. The mutation detected in exon 4: NM_001127605: c.G353A (p.G118D) represents glycine substitution with aspartic acid and allowed an accurate recognition of LAL-D in a patient previously diagnosed with hemophagocytic lymphohistiocytosis (HLH). “Considering the similarities…
Clinicians identified an association between Wolman disease, a type of lysosomal acid lipase deficiency (LAL-D), and metastatic Crohn’s disease (MCD), as published in the Journal of The American Academy of Dermatology Case Reports. A 39-month-old female was diagnosed with Wolman disease at the age of 4 months. She presented with hepatosplenomegaly, adrenal calcification, and severe…
Researchers presented the challenges of pediatric adrenal insufficiency and reviewed existing therapeutic solutions, as published in Therapeutic and Clinical Risk Management. The adrenal glands are physiologically important because they are responsible for producing aldosterone, cortisol, and androgen. These hormones are the end result of pathways that start from the hypothalamic-pituitary axis. Primary adrenal insufficiency is caused…
A 2-month-old infant was diagnosed with Wolman disease (WD), a type of lysosomal acid lipase deficiency (LAL-D), using ultra-rapid genomic sequencing. The case was presented at the 14th International Congress of Inborn Errors of Metabolism in Sydney, Australia. The infant failed to thrive and presented with a fever, lethargy, and abdominal distension with marked hepatosplenomegaly.…
Researchers presented the case of a baby girl with Wolman disease and COVID-19, as presented in a poster at the 14th International Congress of Inborn Errors of Metabolism in Sydney, Australia. “Our patient is important because she is the first case to show severe mesenteric lymph node involvement despite treatment and COVID-19 [polymerase chain reaction]…
Researchers reported the rare case of an infant with Wolman disease who developed hemophagocytic lymphohistiocytosis, as published in the journal Molecular Genetics and Metabolism Reports. Wolman disease is a severe type of lysosomal acid lipase deficiency (LAL-D). “Our case shows the importance of an early diagnosis of [Wolman disease],” Federico Baronio, MD, PhD, and the…
Early initiation of enzyme replacement therapy (ERT) with sebelipase alfa in patients with Wolman disease led to 100% survival with positive outcomes, according to the results of a nationwide cohort study with up to 10 years of follow-up. Wolman disease is a rapidly progressing form of lysosomal acid lipase deficiency (LAL-D) which is characterized by…
