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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism first described in 1964.¹ Patients with SLOS are deficient in 7-dehydrocholesterol reductase (DHCR7), the enzyme that catalyzes the final step of the cholesterol biosynthetic pathway, owing to disease-causing mutations in the DHCR7 gene located on chromosome 11q12.13. Deficiency in DHCR7 results in accumulation of cholesterol precursors, in particular, 7-dehydrocholesterol (7-DHC), and low levels of serum cholesterol. Clinical features are variable but include multiple malformations and developmental delay. Photosensitivity is now also a recognized feature, affecting about two thirds of patients with SLOS,^2-3 with the action spectrum defined in 3 cases as falling in the UV-A range.³ Treatment for SLOS often includes a diet that is high in cholesterol, which parents of patients with SLOS report is of benefit for the photosensitivity.^2-3

Methods

In this study, 7 children with SLOS and associated photosensitivity underwent UV-light testing. Ethical approval was obtained from . . . [Full Text of this Article]

Results

Comment

AUTHOR INFORMATION
Julie A. Martin, MBChB, MRCP; Charles Taylor, MD; Manju Trehan, MD; Elma D. Baron, MD; Alexander V. Anstey, MD, FRCP