In the Thick of It

Update item information
Identifier walsh_2016_s3_c1
Title In the Thick of It
Creator Kannan M. Narayana; Ritesh A. Ramdhani; Bradford Tannen; Laura J. Balcer; Steven L. Galetta; Janet C. Rucker
Subject Cerebrotendinous Xanthomatosis (CTX); Metabolic/Storage Diseases; Achilles Tendinous Xanthoma; Cataracts; Dentate Nuclear Signal Alterations
History A 38 year-old woman with a history of premature birth with significant developmental delay was sent for neuroophthalmic evaluation for excessive head movements with gaze shifting. As an adult, she was verbal and able to take the bus alone to a day program. Over the past two years, language and cognitive skills deteriorated and she developed slowed movement and a hand tremor. Hand-eye coordination was reportedly impaired. Her paternal grandfather and his family from China were reported to have an undiagnosed neurological problem. On examination, she was largely non-verbal, perseverative and bradyphrenic. She was able to follow only simple commands and recalled 0/3 objects at 5 minutes. Examination further revealed symmetric parkinsonism with a rest tremor, lower cranial dystonia, frontal release reflexes, and marked gait ataxia. She confabulated answers during acuity testing and often appeared not to be looking at the chart, but was able to properly identify numbers on the 20/400 line of the near card. She blinked to threat in both hemifields of each eye. Pupils were poorly reactive. She had cortical cataracts with central posterior subcapsular opacities OU and optic nerves were pale temporally. Motility range was full, but she had profoundly increased saccadic latency and made large head movements with saccade attempts. Smooth pursuit was saccadic and much more difficult to elicit with the head stationary. She was unable to accurately reach for an object presented in her peripheral vision. MRI brain without gadolinium showed severe confluent white matter changes in temporal and occipital white matter, extending into the splenium of the corpus callosum and thalami. The corticospinal tracts, ventral brainstem, and cerebellum were markedly abnormal. There was mild cerebellar atrophy and moderate cerebral and vermian atrophy.
Relation is Part of NANOS Annual Meeting Frank B. Walsh Sessions; 2016
Contributor Primary Kannan Narayana, Ritesh Ramdhani, Bradford Tannen, Laura Balcer, Steven Galetta, Janet Rucker
Date 2016-02-28
Type Image/MovingImage
Format video/mp4
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL
ARK ark:/87278/s61r9n5x
Setname ehsl_novel_fbw
Date Created 2016-06-21
Date Modified 2017-02-15
ID 179383
Reference URL
Back to Search Results