Abstract
Pursuit of a possible metabolic basis for an unrecognized pattern of multiple congenital anomalies in a newborn girl led to the detection of a huge elevation of plasma 7-dehydrocholesterol at age 8 months. The biochemical findings and the evolving clinical picture led to the diagnosis of Smith-Lemli-Opitz syndrome at age 11 months. High cholesterol diet may have improved the rate of developmental progress.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / diet therapy
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Abnormalities, Multiple / metabolism*
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Bile Acids and Salts / urine
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Cholesterol / biosynthesis*
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Cholesterol, Dietary / therapeutic use*
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Dehydrocholesterols / blood
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Face / abnormalities
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Female
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Humans
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Infant
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Intellectual Disability / diet therapy
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Intellectual Disability / metabolism*
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Lipid Metabolism, Inborn Errors / diet therapy*
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Lipid Metabolism, Inborn Errors / metabolism
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Microcephaly
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Syndrome
Substances
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Bile Acids and Salts
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Cholesterol, Dietary
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Dehydrocholesterols
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Cholesterol
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7-dehydrocholesterol