| Identifier |
walsh_2013_s3_c2-1 |
| Title |
Diabetes Does Not Explain It All |
| Creator |
Philip M. Skidd; Joseph F. Rizzo; Florian S. Eichler; Dean Cestari |
| Affiliation |
(PMS) (JFR) (DC) Department of Neuro-Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA; (FSE) Department of Neurology, Massachusetts General Hospital, Boston, MA |
| Subject |
Adult polyglucosan body disease; Glycogen branching enzyme 1; Optic atrophy |
| History |
Systemic hypertension, type II diabetes mellitus, hypercholesteremia, anxiety and depression. |
| 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) |
| 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. |
| Presenting Symptom |
A 62 year-old male referred for a six month history of progressive, painless, vision loss. |
| Neuroimaging |
MRI |
| Treatment |
Trihetanoin |
| Date |
2013-02 |
| References |
1. Lossos A. et al. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012 Sep;72(3):433-41. 2. Robertson NP, et al. Adult polyglucosan body disease associated with an extrapyramidal syndrome. J Neurol Neurosurg Psychiatry. 1998 Nov;65(5):788-90. 3. Roe CR, et al. Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. Mol Genet Metab. 2010 Oct-Nov;101(2-3):246-52. 4. Case 1: I Can't See, Walk, Poop or Pee. Knox DL, Hogan NR, The 36th Annual Frank B. Walsh Society Sessions 2004, Orlando, NANOS. |
| Language |
eng |
| Format |
application/pdf |
| Format Creation |
Microsoft PowerPoint |
| Type |
Text |
| Source |
45th Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting Frank B. Walsh Sessions; 2013 |
| 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 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6ks9p5n |
| Setname |
ehsl_novel_fbw |
| ID |
179162 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6ks9p5n |
