A 2-month-old female infant was diagnosed with Wolman disease, a subtype of lysosomal acid lipase deficiency (LAL-D), with the findings published recently in Scholars Journal of Medical Case Reports.

Individuals with Wolman disease, a rare hereditary metabolic lipid storage disorder, experience a total deficiency in LAL, which results in the accumulation of triglycerides and cholesteryl esters in their lysosomes. This, in turn, leads to progressive damage in numerous bodily organs, along with subsequent diarrhea, vomiting, and severe malnutrition.

If Wolman disease remains untreated in the first few months of life, it is fatal. To establish appropriate management, early recognition of the initial signs of the disorder is critical. Patients typically receive enzyme replacement therapy with sebelipase alfa and are managed with a special, adapted diet, which are both key to reducing lipid levels in their affected organs and improving their quality of life.

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Upon presentation at 2 months of age, the patient described in this case study exhibited abdominal distension and jaundice. In fact, 20 days earlier, the onset of abdominal distension, along with weight stagnation, diarrhea, and vomiting, was reported, which developed in the setting of an altered general condition and apyrexia. Her physical examination showed a distended abdomen with an umbilical hernia and collateral venous circulation, icterus, hepatomegaly, splenomegaly, and a body weight of 3.2 kg.

Read more about approved therapies for LAL-D

The infant’s laboratory workup revealed microcytic anemia, thrombocytopenia, hepatic cytolysis, and cholestasis. Intracytoplasmic foamy lipid vacuoles in her lymphocytes were observed on blood smear. The infant’s lipid profile was normal. She underwent an abdominal ultrasound, on which massive hepatomegaly, splenomegaly, and bilateral calcifications were detected.

Based on these clinical findings, it was strongly suspected that the patient had a metabolic disorder—likely Wolman disease—with the diagnosis ultimately established by low leucocyte acid lipase activity. The infant received symptomatic treatment; however, her outcome proved fatal after 20 days.

When a deficiency of the LAL enzyme exists, elevated triglyceride and cholesterol levels are observed, which result in the deposition of excessive amounts of lipid esters in most body tissues—in particular, the adrenal glands, spleen, and liver. Death within the first few months of life is usually reported, which is associated with massive hepatosplenomegaly, steatorrhea, vomiting, and feeding difficulties that are linked to malnutrition with stunted growth and malabsorption.

“Our observation highlights the severity of Wolman disease, which is fatal if untreated in the first months of life,” the authors noted. “The determination of acid lipase activity in leukocytes and fibroblasts, as well as the search for a mutation in the LIPA gene, allows the diagnosis to be confirmed,” they explained. “Early recognition of the first signs of Wolman disease is essential for the appropriate management and improved prognosis among patients with the disorder,” the researchers concluded.


Filali I, Aouraghe H, Hmimidi I, Abilkassem R, Agader A. Rare cause of liver cell failure in infants: Wolman disease. Sch J Med Case Rep. Published online August 8, 2023. doi:10.36347/sjmcr.2023.v11i08.011