RESIDENT

& FELLOW
SECTION
Teaching NeuroImages:
Section Editor Prominent spinal cord atrophy and white
John J. Millichap, MD
matter changes in adult polyglucosan
body disease
A. Sebastian López
Figure 1 Brain MRI fluid-attenuated inversion recovery (FLAIR) sequences
Chiriboga, MD

Correspondence to
A. Sebastian López Chiriboga:
lopez.alfonso@mayo.edu

Symmetric hyperintense white matter lesions in the (A) periventricular area, (B) optic radiations, (C) mesencephalic white
matter, (D) superior cerebellar peduncles, and (E) medulla. No contrast enhancement was noted (not shown).

A 48-year-old man of Ashkenazi Jewish descent misdiagnosis with multiple sclerosis and other
developed neurogenic bladder and mild cognitive leukodystrophies.2
dysfunction. Neurologic examination and CSF
analysis were unremarkable. Brain MRI demon- STUDY FUNDING
strated white matter changes in the internal cap- No targeted funding reported.

sule, optic radiations, mesencephalon, superior

cerebellar peduncles, pons, and medulla (figure 1)
and prominent medullary and spinal cord
atrophy (figure 2). These findings are classically
found in adult polyglucosan body disease
(APBD).1 Glycogen branching enzyme GBE1
gene sequencing revealed that the patient was com-
pound heterozygous (c.69112T.C and c.986
A.C). APBD should be considered in patients
with adult-onset leukodystrophy and spinal
atrophy; genetic testing is crucial to prevent
DISCLOSURE
A.S. López Chiriboga reports no disclosures relevant to the manuscript.
Go to Neurology.org for full disclosures.
REFERENCES
1. Mochel F, Schiffmann R, Steenweg ME, et al. Adult
polyglucosan body disease: natural history and key
magnetic resonance imaging findings. Ann Neurol
2012;72:433–441.
2. Paradas C, Akman HO, Ionete C, et al. Branching enzyme
deficiency: expanding the clinical spectrum. JAMA Neurol
2014;71:41–47.

Download teaching slides:

Neurology.org
From the Department of Neurology, Mayo Clinic, Jacksonville, FL.

e194 © 2017 American Academy of Neurology

ª 2017 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

 Figure 2 Cervical spine MRI

(A) T2 fluid-attenuated inversion recovery and (B) T2-weighted images show marked atrophy of the medulla and cervical
spinal cord. (C) T2-weighted images show hyperintensities in the corticospinal tracts and (D) increased signal in the dorsal
columns (arrowhead).

Neurology 88 May 16, 2017 e195

ª 2017 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in
adult polyglucosan body disease
A. Sebastian López Chiriboga
Neurology 2017;88;e194-e195
DOI 10.1212/WNL.0000000000003945

This information is current as of May 15, 2017

Updated Information & including high resolution figures, can be found at:
Services http://n.neurology.org/content/88/20/e194.full

Supplementary Material Supplementary material can be found at:

http://n.neurology.org/content/suppl/2017/05/16/WNL.0000000000003
945.DC1
References This article cites 2 articles, 0 of which you can access for free at:
http://n.neurology.org/content/88/20/e194.full#ref-list-1
Subspecialty Collections This article, along with others on similar topics, appears in the
following collection(s):
Leukodystrophies
http://n.neurology.org/cgi/collection/leukodystrophies
Multiple sclerosis
http://n.neurology.org/cgi/collection/multiple_sclerosis
Muscle disease
http://n.neurology.org/cgi/collection/muscle_disease
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