Jiménez GR, Penalver VR, Alfonso NL

Language: Spanish
References: 13
Page: 76-85
PDF size: 416.67 Kb.

ABSTRACT

Background: Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome to which multiple congenital anomalies, intellectual retardation, failed growth and serious behavioral and nutritional therapy problems are associated.
Objective: to show the clinical picture and the nutritional treatment of 16 years-old adolescent diagnosed with Smith-Lemli-Opitz, on the basis of a customized cholesterol-rich enteral diet.
Methods: the follow-up of a 16 years-old adolescent, diagnosed with Smith-Lemli- Opitz syndrome at the age of 9 months, was presented. The growth curves for this type of syndrome as well as the effect of the nutritional and metabolic support of the customized NutrialI-supplemented diet were presented.
Results: the nutritional-metabolic support with a customized diet rich in natural sources of cholesterol, mainly egg yolk and NutrialI, improves weight and height, manages to keep over the 5th percentile and very close to 50 percentile of weight for age. It could be observed that there was close association between cholesterol provided by the nutritional support and the levels of plasma cholesterol (R2= 0.907; p ≤ 0.000), which does not mean that there is an exact cause/effect relationship.
Conclusions: customized diet at home with egg and NutrialI supplementation favors the linear growth and improves the plasma cholesterol levels in the patient suffering Smith-Lemli-Opitz syndrome.

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