Compound heterozygous deletions presenting as infantile chylomicronemia

Monogenic disorders affecting the lipid metabolism are rare, but early diagnosis is important to ensure prompt initiation of management. Case Report: A three-week old neonate presenting with rectal bleeding was found to have blood of an unusual cream-like appearance. Significant lipemia was confirmed, with massive increase in triglyceride and cholesterol levels. Centrifugation confirmed chylomicronemia. Primary chylomicronemia is extremely rare and most commonly caused by a lipoprotein lipase (LPL) gene mutation. The infant was a compound heterozygous for two deletions in the LPL gene: p. Thr45HisfsX3, and the here for the first time described p. Phe189X, both leading to a premature stop codon the absence of a mature protein. Subsequent change to medium chain triglyceride feed resulted in near-normal blood lipid levels. Conclusion: Novel mutations affecting chylomicron metabolism continue to be identified and may affect patients of ethnic background considered low-risk. This case illustrates that adequate treatment and dietary management is highly effective in symptomatic management, and in preventing serious complications in both infancy and later in life.