CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) – A case report

Wolman disease is a lethal rare autosomal recessive disorder defined by the deficiency of acid lipase enzyme. The disease is a lysosomal storage disease. Multiple organs such as adrenal glands, liver, spleen, bone marrow, small bowel loops, and abdominal lymph nodes are infiltrated by the deposition of lipids. Infants generally present with failure to thrive, abdominal distention, vomiting, steatorrhea, and hepatosplenomegaly. Authors’ present a 1 month-old male infant with abdominal distention and failure to thrive who was referred for abdomen CT scan. The CT scan revealed stippled calcifications of both enlarged adrenal glands, without the distortion of the adreniform shape, fatty liver, splenomegaly and thickened small bowel loops; characteristic imaging findings of Wolman disease. CT scan is the imaging modality of choice for the recognition of the disease. There is no definite cure explained yet. Further studies are required to find the definite treatment of the disease.