Progressive Aphasia and Vision Loss in a Teen-Aged Girl

Abstract

A 16-year-old female honor student presented for evaluation of vertigo, headache, mild aphasia, and blurred vision. Her symptoms started approximately 2 months earlier when she experienced 3–4 days of intense vertigo and ear pain that waxed and waned and then gradually subsided. Her bifrontal headache initially was intermittent, but over the next several months, increased in severity and duration and by the time of presentation had become persistent. Her family indicated that she understood language normally but was having increasing difficulty with word finding. Visual symptoms were vaguely characterized as blurriness with intermittent diplopia. She occasionally stumbled while walking, which she attributed to difficulty seeing. She had no significant medical history. The patient was assessed at another hospital where brain MRI was abnormal. Lumbar puncture revealed a protein of 53 mg/dL (normal, 14–45 mg/dL), glucose of 36 mmol/L (normal, 50–80 mmol/L), 1 leukocyte, and 1 erythrocyte. The opening pressure was not recorded, and cytological examination was not performed. IgG index was normal, and oligoclonal bands were absent. Other unremarkable CSF studies included polymerase chain reaction (PCR) for herpes simplex viruses 1 and 2, cytomegalovirus, and JC virus, assay for myelin basic protein, and staining for acidfast bacillus. Serologic and blood studies were negative or normal, including white blood cell count, hemoglobin, hematocrit, platelet count, ferritin level, angiotensin-converting enzyme, anti-nuclear antibody, single-stranded DNA, double-stranded DNA antibody, PCR for human immunodeficiency virus, rapid plasma reagin, rheumatoid factor, very long-chain fatty acids, Lyme disease, and aquaporin-4 channel antibodies. When evaluated at our institution, the patient’s visual acuity was 20/20 in each eye with no relative afferent pupillary defect. Extraocular motility showed slight limitation of abduction of the left eye. External examination, anterior segment examination, and intraocular pressure were normal in both eyes. Dilated fundus examination revealed moderate bilateral optic disc swelling (Fig. 1). There was no evidence of vitritis or other posterior segment abnormalities. Automated perimetry revealed a right homonymous hemianopia and a left inferior homonymous quadrantanopia (Fig. 2). The patient had normal vital signs and was afebrile. No abnormalities were found on general physical examination. Neurologic examination revealed normal sensation and strength in the face and extremities. Cerebellar function, deep-tendon reflexes, and gait were normal. The patient’s speech was moderately fluid with poor naming of lowfrequency objects. Comprehension was moderate with slowing during 3-step commands. Reading was poor, and she was able to write only simple sentences. Brain MRI was obtained.