| Identifier |
walsh_2011_s1_c2 |
| Title |
A Case of Recurrent Encephalopathy, Seizures, and Retinopathy |
| Creator |
Ryan Walsh |
| Subject |
Brain Diseases, Metabolic; Retina; Seizures; Retinal Diseases; Racemases and Epimerases; alpha-methylacyl-CoA racemase; Encephalitis; Macular Degeneration; Retinal Pigment Epithelium; Leukoencephalopathies |
| History |
A 45-year old male with right hemisphere encephalitis and a Dx of macular degeneration at age 43. Previous history significant for a learning disability and a complex partial seizure disorder diagnosed 20 years earlier subsequently managed with an anti-epileptic. |
| Pathology |
Chronic necrotizing encephalitis |
| Disease/Diagnosis |
AMACR deficiency |
| Clinical |
Retinal pigment epithelium loss in a bull's eye pattern bilaterally. |
| Presenting Symptom |
Seizures; Bilateral retinopathy; Neurologic deficits |
| Neuroimaging |
MRI |
| Treatment |
Anti-inflammatory agent; Dietary restriction of pristanic and phytanic acids |
| Date |
2011-02-05 |
| References |
1. McLean BN, Allen J, Ferdinandusse, Wanders RJA. A new defect of peroxisomal function involving pristanic acid: a case report. J Neurol Neurosurg Psychiatry, 72, 396-399, 2002. 2. Thompson SA, Calvin J, Hogg S, Ferdinandusse S, Wanders RJA, Barker RA. Relapsing encephalopathy in a patient with a-methylacyl-CoA racemase deficiency. J Neurol Neurosurg Psychiatry, 79, 448-450, 2008. 3. Ferdinandusse S, Denis S, Clayton PT, et al. Mutations in the gene encoding peroxisomal a-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nature Genetics, 24, 188-191, 2000. 4. Clarke CE, Alger S, Preece MA, et el. Tremor and deep white matter changes in a-methylacyl-CoA racemase deficiency. Neurology, 63, 188-189, 2004. 5. Smith EH, Gavrilov Dk , Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S. An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. J Inherit Metab Dis. 2010 Sep 4. [Epub ahead of print]. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
43rd Annual Frank Walsh Society Meeting |
| Relation is Part of |
Case presented at the NANOS 2011 Walsh Session, February 5 |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2011. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s61c20r7 |
| Contributor Primary |
Walsh, Ryan |
| Contributor Secondary |
Stewart, Michael; Brazis, Paul |
| Setname |
ehsl_novel_fbw |
| ID |
179026 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s61c20r7 |
