This photo essay reports on the case of an 18-year-old man with right frontal lobe gliomatosis cerebri (GC) and tumor infiltration of the optic chiasm and right optic nerve, including the optic disc. The authors are unaware of similar reports of optic disc infiltration in patients with GC.
They note that early recognition of GC may allow for palliative preservation of vision via focal radiotherapy to the optic apparatus. Additionally, direct visualization of the tumor on funduscopy provides a potential opportunity to follow progression of disease or treatment response as an adjunct to neuroimaging.
The authors say that GC diagnosis can be challenging because its 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. GC often involves the hypothalamus, basal ganglia and corpus callosum.
MRI has facilitated the diagnosis of GC, but because of its multifocal nature, GC may be mistaken for other neurologic disorders, such as multiple sclerosis or progressive multifocal leukoencephalopathy. Invasion of the optic nerves and chiasm occurs in approximately 10 percent of GC cases.
In this case, the patient presented with generalized tonic–clonic seizures and was found to have an area of abnormal T2 signal without enhancement in the right frontal lobe on magnetic resonance imaging (MRI).
He was treated with anticonvulsants for 16 months until he developed severe morning headaches, blurred vision and diplopia. Examination revealed bilateral papilledema, and the MRI demonstrated expansion of the fluid attenuated inversion recovery (FLAIR) abnormality to occupy most of the right cerebral hemisphere and a part of the left frontal lobe.
While MRI of the anterior visual pathways was unremarkable, brain biopsy showed World Health Organization Grade 3 astrocytoma. In conjunction with the MRI and clinical findings, GC was diagnosed.
The patient underwent subtotal resection of the right frontal tumor, followed by radiotherapy and concurrent temozolomide. Papilledema resolved and vision remained stable for approximately 20 months, when the patient complained of progressive visual decline in the right eye. 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. 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 optical coherence tomography of the right optic nerve head showed loss of normal structure with cystic spaces.
Over a three-month period, the patient’s neurologic condition deteriorated, despite a number of chemotherapeutic regimens, and he died.