Wolman disease - Case in 1 month old female
Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...
CASE SUMMARY
A 1-month-old female presented to our institution with a history of poor feeding, diarrhea and a 2-lb weight loss. Upon evaluation, the patient was determined to have severe dehydration, acute renal failure, and metabolic acidosis. Cornelia De Lange syndrome was initially suspected by the geneticists due to dysmorphic facial features, including prominent eyebrows, thin upper lip, and smooth philtrum. Imaging revealed bilateral adrenal enlargement and calcifications with maintenance of the adreniform shape. Bone marrow findings and genetic tests were performed and confirmed the diagnosis.

IMAGING FINDINGS
Initial plain radiograph of the abdomen for catheter placement demonstrated dense calcifications in the region of the adrenal glands (Figure 1). Subsequent abdominal ultrasound showed bilateral enlarged and calcified adrenal glands (Figures 2 and 3) which maintained their adreniform shape. A CT scan of the abdomen and pelvis with and without contrast showed bilaterally enlarged calcified adrenal glands, hepatomegaly with fatty change, splenomegaly, and mild ascites (Figures 4-6).

DIAGNOSIS
Wolman disease
The differential diagnoses include neuroblastoma, ganglioneuroblastoma, adrenal hemorrhage, granulomatous disease/infection, lymphoma, and adrenal carcinoma.

https://goo.gl/eLv3hx
Like
Comment
Share