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Abstract Details

A Case of Leber’s Plus Causing Recurrent Myelopathy Due to a Mutation at G3635A
Autoimmune Neurology
Autoimmune Neurology Posters (7:00 AM-5:00 PM)
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To present a case of Leber's Plus due to a mutation at G3635A causing bilateral optic neuropathy and two distinct episodes of myelopathy.
Leber's Hereditary Optic Neuropathy (LHON) can rarely be to due to a G3635A mutation at MT-DN1. Previously described phenotypes of patients with this mutation have had the classic sub-acute to acute bilateral vision loss of LHON. It is known that other primary LHON mutations can cause neurologic conditions besides vision loss and this is known as Leber's Plus. However, Leber's Plus due to the G3635A mutation has not previously been described.

A 51-year-old African American man with known LHON presented with worsening lower extremity weakness and numbness. Over the preceding two weeks, he had gone from being able to ambulate independently around his home to being wheelchair-bound. He developed a sensory level below the T4 dermatome to light touch, pinprick, and vibration. Magnetic Resonance Imaging (MRI) of his cervical and thoracic spine showed a T2 hyperintense lesion extending from C2 to T12. Notably, he had a similar presentation about two years earlier and at that time was found to have a longitudinally extensive myelopathy that, after extensive evaluation, was thought to be due to Lebers Plus. Genetic testing showed a 3635 G to A mutation. MRI at this presentation demonstrated a lesion lateral to his prior C1-T10 lesion. Evaluation for infectious or autoimmune causes for his myelopathy were unrevealing and he was diagnosed with recurrent myelopathy secondary to Leber’s Plus.

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Patients with Leber’s Hereditary Optic Neuropathy may have neurologic manifestations other than optic neuropathy. Historically, this combination of bilateral optic neuropathy and other neurologic conditions due to LHON has been called “Leber’s Plus.” The rare primary LHON mutation, G3635A, may cause Leber’s Plus with bilateral optic neuropathy, paresis, and recurrent myelopathy.
Authors/Disclosures
Elijah Lackey, MD
PRESENTER
Dr. Lackey has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for EMD Serono. Dr. Lackey has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Dr. Lackey has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Doximity.
Christopher P. Eckstein, MD The institution of Dr. Eckstein has received research support from Biogen. The institution of Dr. Eckstein has received research support from Genzyme.