Siblings with Wolman disease who died in early infancy prior to approval of enzyme replacement therapy

Abstract

Wolman disease is a metabolic disorder with a poor prognosis. It has an autosomal recessive form of inheritance that causes death in early infancy due to a deficiency of lysosomal acid lipase. Before the availability of enzyme replacement therapy with recombinant human lysosomal acid lipase, the disease usually resulted in death within the first six months of life. We experienced two cases of Wolman disease in siblings who were diagnosed prior to the approval of enzyme replacement therapy. The (older) brother gradually developed abdominal distention and limb emaciation from 2 weeks of age, and died of unknown causes at 51 days of age. The (younger) sister developed abdominal distention and vomiting from 3 weeks of age. Abdominal CT scan taken at 76 weeks of age revealed adrenal calcification, leading to a diagnosis of Wolman disease, but she died at 4 months of age due to multiple organ failure. As adrenal calcification had been found in the brother, it was assumed that he also had Wolman disease. Although only one case has been diagnosed in Japan in the past 20 years, it is important to raise awareness of Wolman disease to enable early diagnosis now that treatment is available.