DR. TEJASWINI VUKKADALA

Dr.AKSHAYA BALAJI, Dr.Shorya Vardhan Azad

Abstract

A 6-year-old male child suffering from epilepsy was referred for fundus evaluation. He had multiple non-tender pigmented papules over his nose and cheeks. Visual acuity was 20/20 in both eyes. Anterior segment was normal. Fundoscopy of the left eye revealed 2 triangular slightly elevated grayish hypopigmented lesions. Right eye fundus was unremarkable. Magnetic Resonance Imaging (MRI) brain revealed multiple focal areas of edema in bilateral frontal, parietal and temporal region suggestive of cortical tubers. Optical Coherence Tomography (OCT) of the lesion showed a hyperreflective lesion involving the inner retinal layers. The facial lesions are angiofibromas suggestive of adenoma sebaceum. This constellation of adenoma sebaceum, cortical tubers on MRI, epilepsy, and retinal astrocytoma are consistent with a diagnosis of tuberous sclerosis. The child was advised periodic fundus examination and epilepsy managed with antiepileptics.