Presentation
Patient with severe psychomotor retardation and seizures and visual problems.
Patient Data
The globes have irregular heterogeneous signals without the normal suppression of the vitreous humor on FLAIR. Susceptibility-induced signal loss is also present. Features are those of bilateral retinal detachment.
Characteristic findings of tuberous sclerosis including cortical tubercles of random distribution, hypointense on T1, hyperintense on T2 and no suppression on FLAIR and subependymal nodules that enhance with intravenous contrast and show blooming or magnetic susceptibility artifacts due to calcification.
A right frontal poroencephalic cyst, hyperintense on T2, with suppression on FLAIR and Galassi type II arachnoid cyst in the middle cranial fossa are noted.
Case Discussion
Tuberous sclerosis, also known as tuberous sclerosis complex or Bourneville disease, is a phakomatosis (neurocutaneous disorder) characterized by the development of multiple benign tumors of the embryonic ectoderm (skin, eyes, and nervous system).
Additionally, a number of ophthalmological manifestations are recognized including exudative retinal detachment, as seen in this case.
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