Sjogren-Larsson syndrome.

ABSTRACT

Sjogren-Larsson Syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. This has rarely been described in people of Indian origin, case reports mainly being restricted to Caucasians. We have described a 6-year-old girl with classical features of this syndrome, the symptoms having started in infancy. The spasticity is mainly diplegic in nature. Skin changes of ichthyosis are generalized and more in the flexural areas. Mental retardation is severe. Management is supportive.