Abstract

Introduction: Bourneville disease or tuberous sclerosis complex (TSC) is an autosomal dominant disease with variable penetrance. It is classically described in the literature as a triad of seizures, intellectual disability and adenoma sebaceum. Rare disease, it concerns 1/10000 live births. Retinal phages are present in almost 50% of patients. These are glial hamartomas characteristic of the affection.

Case Report: We report the case of a 9 years-old boy referred to the Ophthalmology Department This patient was followed in Rheumato-Dermatology clinic for tuberous sclerosis for about 4 years and there was an evolving of his cutaneous lesions. Dermatologists wanted to find out whether there was ocular manifestations. The interview revealed no history of epilepsy, nor intellectual retardation no similar case in the family neither. The patient had angiofibromas on his face, the rest of the somatic examination was normal. On ophthalmic examination his visual acuity was 10/10 P2 for both eyes. Biomicroscopic examination was normal. The fundus showed a peripapillary retinal phages in the right eye consisting of two yellowish, multinodular raised lesions of tapioca granules, one of which was the same size as the papilla in diameter and the other one was smaller. These corresponded to retinal phage type 2 and papillary pseudo-edema on both eyes.

Conclusion: Bourneville disease or tuberous sclerosis presents a notorious variability of expressivity. Retinal astrocytic hamartoma confirms the diagnosis of this rare disease.

Keywords: Bourneville Disease; Hamartoma; Retina; Tuberous Sclerosis

References

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Citation

Citation: Randrianjafisamindrakotroka Ony., et al. “Bourneville Disease (Tuberous Sclerosis), Case Report". Acta Scientific Neurology 4.3 (2021): 41-45.

Copyright

Copyright: © 2021 Randrianjafisamindrakotroka Ony., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.