Tuberous Sclerosis (Bourneville's Disease)

Presenting Symptom: Seizure; Optic nerve head neoplastic lesion. Pathology: Elevated multinodular lesion. Clinical: This entity is one of the phacomatoses characterized in its complete form by the triad of epilepsy, adenoma sebaceum, and mental deficiency. The brain and eye frequently show nodular masses which, with the ophthalmoscope, present as "mulberry" masses on the disc and in the superficial retina. The patient was a 27-year old female whose mother and brother had seizures and were diagnosed as having tuberous sclerosis. The patient herself has had seizures and typical lesions at the nerve head of mulberry nodules. Disease/ Diagnosis: Bourneville Disease