Abstract :
A 2.5 year boy was brought with spastic diplegia, delayed attainment of motor developmental milestones and congenital ichthyosis. He had borderline intelligence. Magnetic resonance imaging showed bilateral hyperintensities on T2WI and FLAIR sequences with MR spectroscopy showing a characteristic lipid peak at 1.3ppm. clinical and MR findings resemble those of Sjogren-larsson syndrome.
Keyword :
Sjogren-Larsson Syndrome, Congenital Ichthyosis, Spastic Diplegia