SHM Converge Scientific Abstract ePoster Gallery-Stop Drinking So Much Milk!

Pdf Summary

A 14-month-old boy with known left lower extremity overgrowth, macrodactyly, and syndactyly presented with 10 days of progressive facial swelling and generalized edema. He was initially treated for presumed bilateral preseptal cellulitis, but the lack of fever, worsening anasarca, and no response to antibiotics made infection unlikely.<br /><br />Workup showed severe iron deficiency anemia and hypoalbuminemia, with normal renal, liver, and lipid studies. Nephrotic syndrome was considered, but urinalysis and urine dipstick were negative for proteinuria. Further history revealed very high cow’s milk intake of 24–30 oz/day. This led to the diagnosis of protein-losing enteropathy associated with iron deficiency anemia and excessive cow’s milk consumption, confirmed by elevated stool alpha-1 antitrypsin.<br /><br />Treatment consisted of stopping cow’s milk, switching to soy-based milk, and starting iron supplementation. The patient improved completely within two weeks.<br /><br />The child was also evaluated for hemihypertrophy and diagnosed with PIK3CA-related overgrowth syndrome (PROS), a genetic condition caused by variants in PIK3CA affecting cell growth and division. Ongoing multidisciplinary follow-up with plastic surgery, genetics, and hematology/oncology was planned, with possible treatment with alpelisib.

Asset Subtitle

Enrique Konstat Korzenny

Meta Tag

Author List Enrique Konstat Korzenny

Category Clinical Vignettes

Concept Cows Milk

Concept Iron Deficiency Anemia

Concept Protein-Losing Enteropathy

Concept PIK3CA-Related Overgrowth Spectrum

Concept Edema

Distinguished Non-Finalist

Presenter Organization Nicklaus Children's Hospital

Presenting Author Enrique Konstat Korzenny

Track Pediatric

Keywords

protein-losing enteropathy

iron deficiency anemia

cow's milk overconsumption

hypoalbuminemia

anasarca

preseptal cellulitis

PIK3CA-related overgrowth syndrome

macrodactyly

syndactyly

stool alpha-1 antitrypsin

Cows Milk

Iron Deficiency Anemia

Protein-Losing Enteropathy

PIK3CA-Related Overgrowth Spectrum

Edema