Rare case of gliomatosis cerebri with optic nerve head invasion

The authors present the case of an 18-year-old man with gliomatosis cerebri originating in the right frontal lobe, which progressed despite treatment to involve the optic chiasm and right optic nerve including the optic disc. Tumor invasion of the optic nerve head is extremely rare in gliomatosis cerebri.

The authors note that diagnosis of gliomatosis cerebri can be challenging as the clinical presentation is variable. Early symptoms include cognitive and personality changes and seizures, followed by signs and symptoms of increased intracranial pressure. Focal neurologic findings may develop within months but visual field deficits are infrequent.

It is difficult to treat because large tumor volumes increase the morbidity associated with radiation therapy. Response rates to chemotherapy are poor and median survival has been reported at less than three years.

The patient presented with generalized tonic-clonic seizures and was found to have an area of abnormal T2 signal without enhancement in the right front lobe on MRI. After developing severe morning headaches, blurred vision and diplopia, he was found to have bilateral papilledema and MRI demonstrated expansion of the fluid attenuated inversion recovery abnormality to occupy most of the right cerebral hemisphere and part of the left frontal lobe. Brain biopsy showed World Health Organization Grade 3 astrocytoma, and gliomatosis cerebri was diagnosed.

The patient underwent subtotal resection of the right frontal tumor, followed by radiotherapy and concurrent temozolomide. Papilledema resolved and vision was stable for 20 months, after which he complained of visual decline and MRI demonstrated enlargement with some enhancement of the right optic nerve and chiasm consistent with infiltration by glioma.

The authors first evaluated the patient 12 months after onset of visual loss, when visual acuity was no light perception in the right eye and 20/60 in the left eye. Funduscopic examination of the right eye showed a large white mass within the optic disc and the left optic disc was pale. Automated perimetry in the left eye showed temporal visual field loss and OCT of the right optic nerve head showed loss of normal structure with cystic spaces.

Over the course of three months, the patient’s neurologic condition deteriorated despite chemotherapeutic regimens and he died.