| Identifier |
walsh_2016_s3_c1-2 |
| Title |
In The Thick of It - Path PPT |
| Creator |
Kannan Narayana; Ritesh Ramdhani; Bradford Tannen; Laura Balcer; Steven Galetta; Janet Rucker |
| Affiliation |
(KN) (LB) (SG) (JR) NYU School of Medicine New York, NY; (RR) (BT) Mt Sinai School of Medicine New York, NY |
| 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. |
| Disease/Diagnosis |
Cerebrotendinous Xanthomatosis (CTX) |
| Date |
2016-02 |
| References |
1. Ahmed RM, Murphy E, Davagnanam I, Parton M, Schott JM et al. A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry 2014;85: 770-781 2. Mignarri A, Gallus GN, Dotti MT, Federico A. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2014;37:421-9 3. Cruysberg JR, Wevers RA, van Engelen BG, Pinckers A, van Spreeken A, et al. Ocular and systemic manifestations of cerebrotendinous xanthomatosis. Am J Ophthalmol. 1995;120:597-604. 4. Cruysberg JR, Wevers RA, Tolboom JJ. Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. Am J Ophthalmol. 1991;15.112:606-7. 5. Dotti MT, Rufa A, Federico A. Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings. J Inherit Metab Dis. 2001;24:696-706. |
| Language |
eng |
| Format |
application/pdf |
| Format Creation |
Microsoft PowerPoint |
| Type |
Text |
| Source |
48th Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting Frank B. Walsh Sessions; 2016 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2016. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s68h1hb7 |
| Setname |
ehsl_novel_fbw |
| ID |
179358 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s68h1hb7 |
