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Cholesterol supplementation objectively reduces photosensitivity in the Smith–Lemli–Opitz syndrome

✍ Scribed by R.M. Azurdia; A.V. Anstey; L.E. Rhodes

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
307 KB
Volume
144
Category
Article
ISSN
0007-0963

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✦ Synopsis

Smith-Lemli-Opitz (SLO) affected children have multiple congenital physical and mental abnormalities; photosensitivity to ultraviolet A (UVA) has recently become a recognized feature. We present a patient with SLO and prominent photosensitivity in whom detailed phototesting has been performed at baseline and following 6 months of cholesterol supplementation. There was significant improvement in the symptoms of photosensitivity, confirmed objectively by phototesting and accompanied by partial correction of the biochemical abnormalities seen in SLO. This case report is the first to show that cholesterol supplementation in SLO can lead to an objective improvement in the associated photosensitivity.

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