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] positivity in the lymph node,” the researchers wrote.
Wolman disease is a severe type of lysosomal acid lipase deficiency (LAL-D) characterized by the complete absence of the LAL enzyme due to a mutation in the LIPA gene.
This enzyme is normally responsible for breaking down certain lipids in the body. Its absence leads to malabsorption, hepatomegaly, liver dysfunction, ascites, growth retardation, and adrenal calcification. The disease can be treated with the enzyme replacement therapy sebelipase alfa.
Read more about LAL-D approved therapies
The patient presented here had a prediagnosis of Wolman Disease due to a c.652C>T mutation in the LIPA gene. Her LAL levels were measured as 0 nmol/spot/h. She started treatment with sebelipase alfa when she was 82 days old.
When she was 6 months and 21 days old, the patient was admitted to the hospital after presenting with symptoms such as bloody stool (reported in 4% of COVID-19 cases), thrombocytopenia, transaminase elevation, and leukocytosis, and positive COVID-19 test. On day 21, the patient’s COVID-19 test was negative and she was discharged.
However, she returned to the hospital when she was 9.5 months old with bloating, bloody stools, and the inability to eat. She was prediagnosed with intestinal ischemia and perforation. Laparotomy revealed necrotizing enterocolitis, diffuse xanthomatous histiocytic infiltration in the lymph nodes, and suboptimal staining with oil-red-O. The lymph node sample was positive for COVID-19.
“Viral spread may continue up to 1 month after COVID-19 infection with gastrointestinal symptoms,” the researchers wrote. “There is no clear information about whether viral replication continues in organs after COVID-19 infection, and if so, for how long it will continue in which organs.”
The patient’s sebelipase alfa dose was increased to 5 mg/kg/week and she was discharged. She continues to be monitored in outpatient care.
Altun AN, İnci A, Kılıç A, et al. Gastrointestinal involvement at the junction of Wolman disease and COVID-19. Poster presented at: 14th International Congress of Inborn Errors of Metabolism: November 21-23, 2021; Sydney, Australia.