lymphangiogram showed abdominal collateral lymphatics and iliac lymphangiectasia. Overall, these findings were consistent with PLE. A high protein diet and medium-chain triglyceride supplementation were initiated, and she had normalization of serum albumin levels. Genetic analysis showed a SHOC2 gene mutation. Discussion: PLE consists of loss of serum proteins through the digestive tract, which may initially present as hypoalbuminemia in the absence of liver disease. This disorder is important to recognize due to the association between low albumin and increased mortality risk. Lymphatic disease presenting with lymphedema, chylothorax, and lymphangiectasia is well known in NS and may play a role in PLE development. PLE has been tied to the mutation of protein tyrosine phosphatase non-receptor type 11, but to our knowledge, has not been reported with SHOC2 mutation. Because little is understood about PLE in NS, there is no standard treatment. However, supplementation with medium-chain triglycerides and periodic albumin infusions has proven effective. The association between PLE and NS may be more common than acknowledged. This case identifies SHOC2 mutation with PLE and encourages consideration of PLE in NS in hopes of decreasing mortality and increasing quality of life.
Figure 1. A (axial) and B (sagittal): Arrows represent a small 8 mm pseudoaneurysm off of the gastroepiploic artery at the level of the gastrostomy tube insertion site.
Figure 1. A. Large, nonbleeding deep ulcerations in rectum with surrounding friable mucosa B. Oozing terminal ileum ulcerations with associated mucus and friable mucosa C. Chronic, active granulomatous inflammation with a cluster of histiocytes surrounded by lymphocytes and plasma cells (indicated by red arrow).
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