Patients with pineal germinomas commonly show signs and symptoms related to increased intracranial pressure and direct compression of the upper brainstem or cerebellum.1 Ocular manifestations typically include papilledema and extraocular movement disturbances. We describe a patient with a pineal germinoma who had posterior segment inflammatory changes.
A 14-year-old boy of East Indian descent sought care because of a 2-month history of floaters and difficulty with visual tasks. The patient complained of headaches, nausea, vomiting, and an intermittent auditory bruit in the right ear. Systemic examination disclosed an unsteady gait and tremor. Ophthalmic examination revealed a visual acuity of 6/12 OU. Convergence-retraction nystagmus, pupillary light-near dissociation, and slight limitation of upward gaze were present bilaterally. Diplopia was noted on right gaze with evidence of slight underaction of the left superior oblique. Findings from slitlamp examination were normal. Dilated fundus examination revealed bilateral 2+ vitreous cells and marked optic nerve head edema (Figure 1). Tortuosity of the retinal vessels with areas of focal sheathing and exudates in a "candle wax dripping" configuration were also present. Large clumps of vitreous cells were noted in the inferior vitreous base bilaterally.
Black and white (left) and color (right) fundus photographs demonstrating diffuse optic disc swelling and hyperemia in the left eye. Multiple foci of perivenous "candle wax drippings" are present.
Fluorescein angiography revealed numerous areas of segmental hyperfluorescence of the retinal venules along the temporal arcades and leakage from both discs bilaterally. Neither capillary nonperfusion nor retinal neovascularization was noted. Laboratory investigations indicated a minimally elevated erythrocyte sedimentation rate and a normal serum angiotensin-converting enzyme level. Findings from tuberculin skin test, rapid plasma reagin test, and chest x-ray film were normal. A preliminary diagnosis of sarcoidosis was suspected. The patient was referred to the neurology service for evaluation of possible central nervous system involvement.
Computed tomographic scans and magnetic resonance images revealed a partially calcified homogenous 3-cm pineal mass and obstructive hydrocephalus. The neurology service felt the clinical and radiographic findings were consistent with a germinoma and recommended radiotherapy. Based on the clinical examination and the presence of the sarcoidlike appearance in the fundus, the ophthalmology service recommended biopsy to obtain a tissue diagnosis.
A ventriculostomy of the third ventricle with endoscopic biopsy was performed. Findings from histologic examination confirmed the diagnosis of a germinoma. A cerebrospinal fluid specimen was analyzed, and the results were negative for tumor markers and inflammatory cells. Fractionated focal radiotherapy (45 Gy) was administered over a 5-week period. Follow-up serial fundus examinations revealed a marked decrease in optic disc edema and periphlebitis bilaterally. Complete resolution of retinal findings was noted by 3 weeks after termination of radiation therapy (Figure 2). Throughout the patient's medical course, no local or systemic corticosteroid treatment was used.
Black and white (left) and color (right) fundus photographs show marked resolution of optic disc edema and perivenous exudation in the left eye 3 weeks following completion of radiotherapy.
Germinoma is the most common intracranial germ cell tumor and typically arises in the pineal gland or suprasellar region. It occurs frequently in boys aged 10 to 12 years and often is seen with ophthalmic manifestations.1 In our patient the most striking ophthalmic clinical finding was the presence of intraocular inflammation and retinal phlebitis. The fundus appearance was strikingly similar to that seen in patients with retinal involvement of sarcoidosis. It has been estimated that up to 35% of individuals with posterior segment involvement of sarcoidosis will have concomitant central nervous system disease.2 Despite the normal findings from chest x-ray film and normal levels for angiotensin-converting enzyme, our clinical suspicion for sarcoidosis remained strong enough to warrant our insistence that tissue biopsy be performed prior to radiation treatment.
Both the histologic confirmation and the prompt resolution of the retinal lesions following radiotherapy to a distal site supported our new hypothesis that the fundus findings were related to the tumor. Though unproven, this suggests the possibility of a remote influence of the pineal tumor on the retinal vasculature in a manner comparable to a paraneoplastic syndrome.
To our knowledge there are no reported cases of paraneoplastic syndromes associated with pineal germinoma. There are, however, numerous examples of paraneoplastic syndromes associated with seminomas of the testis and dysgerminomas of the ovary, both of which are histologically similar to intracranial germinomas.1 These latter tumors have been associated with hypercalcemia and demyelination disorders.3
Paraneoplastic syndromes typically manifest with widespread outer retinal findings resulting in visual loss and have been associated with a number of different carcinomas.4 The pineal gland contains differentiated photoreceptor tissue and possibly may be a source of antigenic presentation in the context of germinoma. The pineal gland may also be involved in patients with sympathetic ophthalmia and trilateral retinoblastoma.5
We report this case to bring attention to the possible association of retinal vasculitis with germ cell tumors. Knowledge of this association may prevent unnecessary biopsies in future cases.
Corresponding author: Tom S. Chang, Section B, 2550 Willow St, Vancouver, British Columbia, Canada V5Z 3N9.
Chang CW, Hay D, Chang TS, Nguyen R, Lyons CJ. Retinal Periphlebitis in a Patient With Pineal Germinoma. Arch Ophthalmol. 1999;117(10):1434-1436. doi: