Neurofibromatosis and tuberous sclerosis are the most common neurocutaneous disorders. Simultaneous occurrence of the above phakomatoses is very rare. Here, we have a 44-year-old male who presented with both eyes decreased vision. On examination, he showed Lisch nodules over the iris with bilateral temporal pallor. Visual Evoked Potential showed reduced amplitude with normal latency, suggestive of optic nerve pathology. He also had multiple neurofibromas all over the body. So, a probable clinical diagnosis of Optic nerve glioma secondary to Neurofibromatosis Type 1 was made. Patient was advised MRI brain. To our surprise, it showed subependymal nodules in the ventricles, which is a feature of tuberous sclerosis. A screening CT abdomen done, showed multiple angiomyolipoma in the kidney, thus confirming the above diagnosis. It is important for the neuro-ophthalmologist to be aware of this coexistence, so that any life-threatening complication can be avoided by early physician referral.
Leave a Comment