Diabetes Does Not Explain It All

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Identifier walsh_2013_s3_c2-1
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/s6ks9p5n
Setname ehsl_novel_fbw
Date Created 2013-12-12
Date Modified 2021-05-06
ID 179162
Reference URL https://collections.lib.utah.edu/ark:/87278/s6ks9p5n