Background This syndrome is due to a birth defect in cholesterol synthesis and caused by mutations in the DHCR7 gene, which lead to a deficiency of the enzyme that converts 7-dehydrocholesterol to cholesterol. Management is symptomatic and most patients are treated with supplemental dietary cholesterol.

Purpose To evaluate the efficacy and safety of a formulation of cholesterol 150 mg/cc for the treatment of hypocholesterolaemia in a patient diagnosed with Smith-Lemli-Opitz Syndrome (SLOS).

Materials and methods Infant 7 months old diagnosed with SLOS and fed by nasogastric tube. Treatment was initiated with nutritional support based on carbohydrates and cholesterol, in response to which symptoms of gastric intolerance quickly developed. Due to the lack of other nutritional preparations marketed with similar characteristics, the available literature was reviewed in order to develop a formulation that would allow exogenous cholesterol, finding several formulations all based on other centres’ own experience. A suspension of cholesterol 150 mg/cc was proposed.

Results A standard operating procedure for the preparation of a suspension of cholesterol in a final volume of 300 cc was developed. Composition:

• – Cholesterol (Ph. Eur quality) 45 g

• – OraSweet SF 60 cc

• – OraPlus 160 cc

Modus operandi: Prepare the vehicle for suspension, weigh cholesterol and add it to an appropriately sized mortar, add the vehicle slowly, stirring until homogeneous. Transfer the contents to a beaker and homogenise with a magnetic stirrer. Package and label.

Sensory characteristics: flavour: strawberry, appearance: viscous, free of debris.

Stability assigned: 90 days, preserved in refrigerator and protected from light.

No tolerance problems have been reported during the follow-up interval of 6 months. During this period the patient’s cholesterol levels have risen slightly since the last review, although cholesterol values are still below recommended levels.

Conclusions The cholesterol suspension was easy to prepare and well tolerated. It offers a viable option in patients with SLOS who are intolerant of commercial preparations.

No conflict of interest.