RESIDENT & FELLOW SECTION Section Editor Mitchell S.V. Elkind, MD, MS

David Arkadir, MD, PhD Vardiella Meiner, MD Arnon Karni, MD Alexander Lossos, MD

Teaching NeuroImages: Hypertrophic olivary degeneration in a young man with POLG gene mutation Figure

Abnormal findings on MRI

Correspondence to Dr. Arkadir: [email protected]

Symmetric hyperintense signal abnormality and enlarged inferior olives on (A) fluid-attenuated inversion recovery and (B) T2 images, characteristic of bilateral hypertrophic olivary degeneration. Additional findings included hyperintense T2 signal changes in the thalami and deep cerebellar nuclei and mild cerebellar vermis atrophy (C).

A 30-year-old man with sensorineural hearing loss presented with subacute somnolence, slurred speech, and unsteady gait following treatment with peginterferon a-2b and ribavirin for chronic hepatitis C virus. Examination revealed scanning speech, horizontal nystagmus, gait ataxia, and symmetric hyporeflexia with distal sensory loss. There was no palatal myoclonus. Metabolic and serologic workup and blood lactate were unrevealing. Brain MRI demonstrated bilateral hypertrophic olivary degeneration (HOD, figure). Whole exome sequencing identified a homozygous pathogenic p.W748S POLG mutation.1 Differential diagnosis of bilateral HOD includes mutations in the nuclear genes crucial to mitochondrial function, POLG and SURF1.2 AUTHOR CONTRIBUTIONS D.A. had substantial contributions to conception and design of the work, acquisition and interpretation of data, drafting the work, and final approval of the submitted version. V.M. had substantial contributions to conception and design of the work, acquisition and interpretation of

data, drafting the work, and final approval of the submitted version. A.K. had substantial contributions to conception and design of the work, acquisition and interpretation of data, drafting the work, and final approval of the submitted version. A.L. had substantial contributions to conception and design of the work, acquisition and interpretation of data, drafting the work, and final approval of the submitted version.

STUDY FUNDING No targeted funding reported.

DISCLOSURE The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.

REFERENCES 1. Tzoulis C, Engelsen BA, Telstad W, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006;129:1685–1692. 2. Kinghorn KJ, Kaliakatsos M, Blakely EL, et al. Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. J Neurol 2013;260:3–9.

Download teaching slides: Neurology.org From The Departments of Neurology (D.A., A.L.) and Genetic and Metabolic Diseases (V.M.), Hebrew University–Hadassah Medical Center, Jerusalem; and The Department of Neurology (A.K.), Tel Aviv University–Sourasky Medical Center, Tel Aviv, Israel. © 2015 American Academy of Neurology

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Teaching NeuroImages: Hypertrophic olivary degeneration in a young man with POLG gene mutation David Arkadir, Vardiella Meiner, Arnon Karni, et al. Neurology 2015;84;e59 DOI 10.1212/WNL.0000000000001287 This information is current as of February 23, 2015 Updated Information & Services

including high resolution figures, can be found at: http://www.neurology.org/content/84/8/e59.full.html

Supplementary Material

Supplementary material can be found at: http://www.neurology.org/content/suppl/2015/02/21/WNL.000000000 0001287.DC1.html

References

This article cites 2 articles, 1 of which you can access for free at: http://www.neurology.org/content/84/8/e59.full.html##ref-list-1

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This article, along with others on similar topics, appears in the following collection(s): All Clinical Neurology http://www.neurology.org//cgi/collection/all_clinical_neurology All Genetics http://www.neurology.org//cgi/collection/all_genetics Gait disorders/ataxia http://www.neurology.org//cgi/collection/gait_disorders_ataxia Mitochondrial disorders http://www.neurology.org//cgi/collection/mitochondrial_disorders MRI http://www.neurology.org//cgi/collection/mri

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Teaching NeuroImages: hypertrophic olivary degeneration in a young man with POLG gene mutation.

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