| Identifier |
walsh_2013_s3_c2 |
| Title |
Diabetes Does Not Explain It All |
| Creator |
Skidd, Philip M; Joseph F. Rizzo III, M.D.; Eichler, Florian S; Cestari, Dean M |
| Subject |
Adult polyglucosan body disease; Glycogen branching enzyme 1; Optic atrophy |
| Presenting Symptom |
A 62 year-old male referred for a six month history of progressive, painless, vision loss. |
| History |
Systemic hypertension, type II diabetes mellitus, hypercholesteremia, anxiety and depression. |
| Clinical |
On our examination his, best corrected visual acuity was 20/40 OU, and he was able to identify 2/8 color plates OU. Pupils were normal without an RAPD. Humphrey visual fields showed a fairly congruous right homonymous hemianopsia. The optic nerves were pale with an enlarged cup-to-disc ratio of 0.7 OU. A brain MRI showed global atrophy of the cerebrum, cerebellum, brainstem, upper cervical cord, with extensive confluent periventricular and subcortical disease, without enhancement. On further questioning, he revealed a history of erectile dysfunction and bladder urgency dating back at least ten years. He then developed progressive difficulties with gait, and balance. He denied cognitive deterioration and attributed any slowing in his cognition to normal aging. |
| Neuroimaging |
MRI |
| Pathology |
Genetic testing for the glycogen branching enzyme 1 (GBE1) detected a heterozygous mutation, and a functional enzymatic activity assay confirmed dysfunction of glycogen branching enzyme 1. |
| Disease/Diagnosis |
Adult polyglucosan body disease (APBD) |
| Treatment |
Trihetanoin |
| References |
Attached |
| Relation is Part of |
Case presented at the NANOS 2013 Walsh Session, February 10 |
| Contributor Primary |
Bhatti, M Tariq |
| Contributor Secondary |
Thurtell, Matthew J |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Date |
2013-02-10 |
| Type |
Text |
| Format |
application/pdf |
| Source |
45th Annual Frank Walsh Society Meeting |
| Holding Institution |
North American Neuro-Ophthalmology Association (NANOS), Copyright 2013. For further information regarding the rights to this collection, please visit http://library.med.utah.edu/NOVEL |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Language |
eng |
| ARK |
ark:/87278/s6ns3rh9 |
| Setname |
ehsl_novel_fbw |
| Date Created |
2013-12-12 |
| Date Modified |
2021-05-06 |
| ID |
179146 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6ns3rh9 |
