Síndrome de quilomicronemia familiar: relato de caso

Abstract

OBJECTIVE: To report a case of familial chylomicronemia syndrome diagnosed in an infant after admission to the intensive care unit for acute pancreatitis and to conduct a brief review of the literature on the subject. CASE DESCRIPTION: Male infant with a history of irritability, low weight gain and regurgitations since 15 days of life, with progressive worsening. At 3 months of age, developed bilious vomiting and dehydration, requiring hospitalization. Metabolic acidosis and hypertriglyceridemia were evidenced, in addition to the lipemic aspect of the serum. Strict venous hydration was instituted, zero diet and antibiotic therapy, with clinical improvement and drastic reduction of serum triglycerides. After suspected familial chylomicronemia syndrome, skimmed-milk diet was started and specific molecular test was collected, which later confirmed the diagnosis. After hospital discharge, he was referred to the pediatric endocrinology clinic for follow-up. COMMENTS: The description of a rare case of severe dyslipidemia is an essential tool for clinical suspicion, allowing for proper management and reduction of complications and risk of death.

Keywords

• yslipidemias
• hypertriglyceridemia
• lipoprotein lipase