Sjoegren-Larsson Syndrome. A Report of Two Cases in Siblings.

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Sjögren-Larsson syndrome is characterized by the triad of congenital ichthyosis, spastic para-plegia, and mental retardation. We report two cases in siblings and discuss the orthopaedic problems.Case 1: A male; his skin findings were diagnosed as congenital ichthyosis at the age of 1. He began to walk at the age of 2-years 6-months and was reported by a pediatric neurologist to have normal tendon reflexes at the age of 6. On examination of the 23-year-old patient, ichthyosis, mental retardation (IQ 19), hyper-reflexia, positive pathological reflexes and flatfeet were observed.Case 2: A younger sister of case 1, who also presented with similar skin findings at the age of 1. At the age of 16 years she developed feet pain while walking. Although at 17 years of age, her tendon reflexes were reported by a neurologist to be normal, hyper-reflexia, positive pathological reflexes and cavus deformity of the feet, together with ichthyosis, and mental retardation (IQ 22) were observed at the age of 20.Since the spastic paraplegia associated with this syndrome is progressive, judging from the above two cases, the foot deformities may increase with age. Indication for surgical treatment for the foot deformities should also give consideration to the progression of the spastic paraplegia.
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