Acta Scientific Neurology (ASNE) (ISSN: 2582-1121)

Case Report Volume 4 Issue 3

Bourneville Disease (Tuberous Sclerosis), Case Report

Randrianjafisamindrakotroka Ony1*, Rakotoarisoa Rivo Tahiry Rabetafika2, Tongavelona Adrianna3, Raobela Léa1 and Randrianjafisamindrakotroka Nantenaina Soa3

1Ophtalmology Care, Training and Research Units of Joseph Ravoahangy Andrianavalona University Hospital Center, Antananarivo, Madagascar
2Ophtalmology Care, Training and Research Units of Anosiala University Hospital Center, Antananarivo, Madagascar
3Surgical and Cytopathology Laboratory of Joseph Ravoahangy Andrianavalona University Hospital Center, Antananarivo, Madagascar

*Corresponding Author: Randrianjafisamindrakotroka Ony, Ophtalmology Care, Training and Research Units of Joseph Ravoahangy Andrianavalona University Hospital Center, Antananarivo, Madagascar.

Received: September 11, 2020; Published: February 27, 2021

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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

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Citation

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




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Acceptance rate32%
Acceptance to publication20-30 days
Impact Factor0.844

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