IMPORTANT: We currently have a number of bugs related to image cropping and are actively trying to resolve them. In the meantime, we have disabled cropping. Apologies for any inconvenience. Stay informed: radiopaedia.org/chat

Wolman disease

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Abdominal distention with diarrhea and vomiting. Negative catecholamines.

Patient Data

Age: 2 months
Gender: Female
ct

The CT scan demonstrates:

  • enlarged adrenal glands with punctate calcification and preserved normal triangular shape
  • enlarged liver homogeneously hypodense as compared to spleen
  • enlarged spleen
  • multiple hypodense mesenteric and retroperitoneal lymphadenopathy 

 

mri

Only a few MRI sequences were performed, the child woke-up from the anesthesia.

  • the adrenal glands are enlarged diffusely hypointense with preserved triangular-shape
  • the liver and spleen are enlarged. Artifacted T1-GE IPOP sequence, however, the selected images clearly show signal drop out on the out-of-phase sequence due to fatty accumulation
  • multiple mesenteric and retroperitoneal lymphadenopathy of intermediate to high signal on T1, T1-GE in-phase with signal drop out on the out-of-phase sequence mainly of the liver due to fatty accumulation

Case Discussion

The patient'age, the clinical presentation and CT/MRI features (bilateral adrenal enlargement/calcifications, hepatosplenomegaly; enlarged fatty-infiltrated lymphadenopathy) are highly suggestive of Wolman disease.

Wolman disease is considered as an autosomal recessive storage disorder due to a very low (or absent) lysosomal acid lipase (LAL) activity. The deficiency results in the accumulation of lipid esters in multiple tissues including the liver, spleen, adrenal cortex, lymph nodes, and small bowel. The patients present in early infancy with steatorrhea, chronic emesis, failure to thrive, and hepatosplenomegaly. Without treatment, affected individuals usually die during the first year of life.

 

Additional contributor: Amina Hachemi, MD, Pediatrician

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.