Tuberous sclerosis complex in a 7-yr-old boy
The present case has been reported in the Indian Journal of Clinical and Experimental Ophthalmology.

A 7 year old male patient presented for ophthalmic evaluation. He was a diagnosed case of epilepsy with first episode of seizure at 6months of age and had been on antiepileptic medications (Tab vigabatrin 250mg) since then. Last epileptic episode was 1year back.

The patient was mentally retarded with learning difficulties, for which he was undergoing speech therapy and physiotherapy. Birth history and family history were insignificant. History of delayed developmental milestones was present. On general physical examination, multiple flat, reddish macular lesions were noted on the nose and cheeks in a characteristic “butterfly pattern”, suggestive of Adenoma sebaceum.

An irregular, hypo pigmented patch was seen on the trunk, indicative of ash leaf macule. A fibrous plaque on the chin and clubbing of fingers was also noted. Shortness of breath and subungual hamartoma were absent.

On ocular examination, a central, steady and maintained corneal reflex was present. Adnexa and anterior segment of both eyes was normal. Examination under anaesthesia of right eye revealed a single, flat, smooth surfaced, non-calcified and translucent lesion in the superotemporal part of retina with adjoining sclerosed vessels, suggestive of type 2 retinal hamartoma. Fundus of left eye was normal.

MRI brain revealed multiple T2 weighted/ Short tau inversion recovery (STIR) hyperintense and T1 weighted isointense lesions suggestive of cortical and subcortical tubers in frontal, temporal and parieto-occipital lobes. Multiple calcified subependymal nodules were seen on either side evident by increased signal on T1 and signal dropout on Gradient echo sequences (GRE). Periventricular white matter paucity was noted on either side with T2 weighted/STIR hyperintense white matter radial band on right side.

High-resolution computed tomography (HRCT) of the thorax and abdomen showed no abnormality. Flash visually evoked potentials (VEP’s) were markedly prolonged with normal amplitudes on both sides evident of bilateral disturbance in visual pathways.

Electroencephalography (EEG) was abnormal due to predominantly left fronto-polar as well as bisynchronous temporo-occipital inter-ictal epileptic discharges. Based on all the clinical findings and investigations, a final diagnosis of Tuberous sclerosis was confirmed.

Read more here: https://www.innovativepublication.com/journal-article-file/7341
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