Neural, renal and retinal hamartomas with cutis vertis gyrata a rare presentation in tuberous sclerosis complex

Nita U. Shanbhag; Nupur Vijay Bhatt; Sharmila Patil; Priyadarshini Cholera

doi:10.18203/2320-6012.ijrms20151201

Authors

Nita U. Shanbhag Department of Ophthalmology, D. Y. Patil Hospital and Research centre, Navi Mumbai, Maharashtra
Nupur Vijay Bhatt Department of Ophthalmology, D. Y. Patil Hospital and Research centre, Navi Mumbai, Maharashtra
Sharmila Patil Department of Dermatology, D. Y. Patil Hospital and Research centre, Navi Mumbai, Maharashtra
Priyadarshini Cholera Department of Ophthalmology, D. Y. Patil Hospital and Research centre, Navi Mumbai, Maharashtra

DOI:

https://doi.org/10.18203/2320-6012.ijrms20151201

Keywords:

Tuberous sclerosis, Astrocytic retinal hamartomas, Cutis Vertis Gyrata, Subependymal giant cell astrocytoma, Renal angiomyolipomas

Abstract

Tuberous sclerosis complex characterised by multiple benign tumours, is caused by mutation in the genes TSC1 and TSC2 coding for Hamartin and Tuberin respectively. We report a case of a 17 year old female patient who presented with classical Vogt’s triad characterized by seizures, mental retardation and adenoma sebaceous. She presented with Cutis Vertis Gyrata in addition to multiple retinal astrocytic hamartomas in her right eye with retinal pigment epithelium changes in both eyes and a normal anterior segment examination. Magnetic resonance imaging (MRI) of the brain showed subependymal giant cell astrocytomas and cortical tubers. Ultrasound of the abdomen showed bilateral renal angiomyoliposis. We are presenting this case as retinal hamartomas with five Major criteria are seen along with secondary Cutis Vertis Gyrata which is an extremely rare presentation of Tuberous sclerosis. Absence of most of the Minor criteria is not to be excluded.

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