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Lipoprotein lipase (LPL) deficiency is an autosomal recessive condition due to absent or decreased activity of LPL enzyme. The LPL deficiency is a rare condition that is mainly diagnosed in children, but there is no standard screening method at this time. In our report, we describe a 6-day-old male infant who was found to have hypertriglyceridemia after lipemia retinalis was diagnosed from a fundoscopic examination for nonaccidental trauma work-up. After dietary modification was done, his triglyceride levels decreased significantly, and there were no complications. When diagnosed later in life, recurrent pancreatitis can be a significant complication.

The indications for dietetic and therapeutic measures vary according to the type of hyperlipidaemia. A low fat diet is difficult to maintain and has exceptional and precise indications. It is indispensable in type I hyperlipidaemia, particularly since there is at present no drug capable of reducing hyperchylomicronaemia. It is also indicated in type V hyperlipidaemia in association with a low carbohydrate diet--a dietetic treatment which may become troublesome in long terme and must be supervised by highly specialized dieticians. In all other types of hyperlipidaemia systematic reduction of fats is wrong on theoretical grounds and must be firmly rejected on account of its detrimental consequences. When the patient's weight is normal, a normolipidic diet should be prescribed, with emphasis on unsaturated fats. In obese patients, but only at the onset of treatment, an overall low calorie diet with restriction of fats and carbohydrates should be advised. As soon as the target weight is reached, however, this should be replaced by another weight-stabilizing, isocaloric and normolipidic diet. It is, in fact, this kind of diet which all patients with type II, III and IV hyperlipidaemia will finally require.