Dr.GEETHU GOPINATH
Tuberous sclerosis complex (TSC) is an autosomal dominant disease with a prevalence of 1 in 6000, characterized by hamartomatous lesions in kidney, retina, heart, skin, CNS and lungs. Definitive TSC is diagnosed with either 2 major or 1 major with 2 minor criteria. Here we report the case of a 7 year old boy with history of epilepsy, developmental delay who presented with complaints of reduced vision in both eyes and abnormal head posture. On examination he had adenoma sebaceum, shagreen patches over the back, subungual nodules. On ophthalmological examination, left divergent squint, refractive error (simple hypermetropia), fundus examination showed grade 2 papilloedema both eyes with achromatic patch on nasal side of optic disc of right eye. MRI brain showed multiple subcortical tubers in bilateral frontoparietal lobes. Early diagnosis is necessary to improve the quality of life. Clinical diagnosis complementing with DNA testing allows precise genetic counseling, which is important.
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