Papilledema and Visual Loss as the Presenting Signs of a Primary Spinal Primitive Neuroectodermal Tumor

Abstract

We report a patient with a primary spinal primitive neuroectodermal tumor (PNET) who presented with papilledema and visual loss before the appearance of myelopathic symptoms. A 28-year-old woman had a 5-month history of intense headaches and progressive visual loss that affected her left eye more than her right eye. Best-corrected visual acuities were 20/50 in the right eye and 20/400 in the left eye. She was able to identify 11/11 Ishihara color plates with the right eye and 0/11 with the left eye. A relative afferent pupillary defect was noted in the left eye. Ophthalmoscopy revealed severe bilateral optic disc swelling associated with macular edema, retinal hemorrhages, and hard exudates (Fig. 1). Automated visual fields demonstrated severe constriction. Results of the neurological examination were normal.FIG. 1: Fundus photographs obtained at presentation show bilateral optic disc edema, hard exudates, and macular edema.Results of CT of the head and orbits and of brain MRI and magnetic resonance venography were normal. Lumbar puncture opening pressure was 630 mm H2O. There were 2 white blood cells (all mononuclear), 694 red blood cells, 500 mg/dL protein, and 16 mg/dL glucose. The elevated protein and decreased glucose levels raised concern for fungal or tuberculosis meningitis, although the patient did not have symptoms to suggest this diagnosis. Results of serum tests for syphilis, toxoplasmosis, HIV, hepatitis A, B, and C, tuberculosis, and Bartonella henselae were negative, as were results of cerebrospinal (CSF) fungal culture, India ink and KOH preparations, Gram stain, and acid fast bacilli (AFB) smear and culture. The patient was treated with 250 mg methylprednisolone intravenously every 6 hours for 5 days and 500 mg acetazolamide intravenously every 6 hours for 5 days with no improvement in visual function. A left optic nerve sheath fenestration was performed with stabilization of vision. Approximately 1 week after the optic nerve sheath fenestration was performed, the patient developed back pain and difficulty walking. Complete spine MRI showed 2 cervical intradural extramedullary masses at C3 and C7, 3 thoracic intramedullary enhancing masses at T4, T8, and T12-L1, and 2 cauda equina masses, one at the left S1 root and the other in the posterior lumbar vertebrae at L2 (Fig. 2). Chest and abdominopelvic MRI showed no abnormalities.FIG. 2: Three weeks after presentation, when the patient first reported back pain and difficulty walking, postcontrast T1 sagittal MRI shows intramedullary masses at C3 (A), C7 (A,B), T4 (B), T12 (C), and caudal equina (C), together with thickened, enhancing leptomeninges (C). Biopsy of the thoracic lesion showed findings consistent with primitive neuroectodermal tumor. (Courtesy of Liana Lopez, MD).The patient refused further medical treatment. Two months later, she returned to the hospital complaining of decreased movement and sensation of both lower extremities and worsening of vision. She subsequently underwent optic nerve sheath fenestration on the right side. A T5-T7 laminectomy with intramedullary biopsy showed a primitive neuroectodermal tumor (PNET). She refused further intervention and died 3 months later of respiratory failure. Papilledema associated with spinal cord tumors was first described by Taylor and Collier in 1901 (1). Since then the association of papilledema and spinal cord tumors has been well documented (2-12). However, papilledema and visual loss preceding myelopathic symptoms occurs much less frequently. There are 11 reported cases, including 1 in French and 1 in Spanish (13-19). In those patients, myelopathic signs developed between 1 and 7 months after the onset of visual symptoms. Five patients had hydrocephalus at presentation. All had elevated CSF protein with normal CSF glucose except for 1 patient with a low glucose level (19). The patient with the low CSF glucose level had a PNET but was treated for tuberculous meningitis before the correct diagnosis was made. We emphasize not only that visual symptoms from papilledema may be a presenting feature of a spinal cord tumor before myelopathic manifestations have appeared but also that spinal fluid analysis may show elevated protein and decreased glucose levels and thus be mistaken for signs of infectious meningitis unless proper spinal imaging is done. Cristobal Cruz Colon, MD Lilliam Díaz, MD Julio A. Rodríguez-Padilla, MD Luis Serrano, MD Department of Ophthalmology University of Puerto Rico Río Piedras, Puerto Rico [email protected]