Abstract
Two cases of Sjögren-Larsson Syndrome were reported. Interesting clinical findings of each patient were elevation of serum copper and high excretion of urinary copper.
Patient I. 9 Yo. male: The patient had characteristic ichthyosis, spastic paralysis, mental retardation, right strabismus and both retentio testis. Abnormal laboratory findings were as below: serum γ-gl 1.7g/dl, α-gl 0.4g/dl. Cu 196-170μg/dl, urinary Cu 17-14μg/mg of creatinine, fundus: atrophy of both optic nerves.
Patient II. 19 Yo. female: The patient had same triad as patient I, especially the ichthyosis was severe. Abnormal laboratory findings were as below: serum γ-gl 1.5g/dl, α-gl 0.3g/dl, Cu 166-160μg/dl, urinary Cu 72-33μg/mg of creatinine. fundus: degeneration of both macula. EEG: typical spike & wave complex in all area. Liver disease, thyroid disease, Wilson's disease and anemia were negrected in both patients. Since Sjögren & Larsson first described this syndrome in 1957, a number of cases have been reported, but the pathogenesis of this syndrome are not yet known. Sjögren-Larsson syndrome with abnormal Cu metabolism has not been reported. In this report, the relation between high serum copper and the pathogenesis of Sjögren-Larsson syndrome was dicussed.
