Compound heterozygous deletions presenting as infantile chylomicronemia

Abstract

Introduction: 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 1 , Geesje Dallinga-Thie 2 , Shankar