Teaching NeuroImage: Leber Hereditary Optic Neuropathy With Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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A 15-year-old boy with a maternal family history of “optic neuropathy” presented with acute flaccid paralysis in both upper limbs. Cervical MRI demonstrated longitudinally extensive T2 lesions, with significant enhancement of the anterior gray matter. Typical “snake-eye” appearance was observed in the follow-up MRI 1 month later (Figure). Analysis of blood mt-DNA revealed a homoplasmic m.14495T>C mutation, confirming the diagnosis of Leber hereditary optic neuropathy (LHON). Idebenone 900 mg/d was given to him, and he recovered completely 3 months later.
MRI in the acute phase demonstrated a longitudinally extensive T2 hyperintensity lesion extending from the lower medulla oblongata to the thoracic level (A, B, arrows) and a linear strip corresponding to the anterior gray matter after gadolinium enhancement (C, D, arrows). MRI in the recovery phase demonstrated the pencil-like T2 hyperintensity on sagittal views corresponding with the “snake-eye” appearance on axial planes (E, F, arrows), without any enhancement (G, H).
Spinal cord involvement was rare in LHON.1 The enhancement pattern in this case mimicked spinal cord infarction rather than demyelinating diseases.2
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Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Teaching slides links.lww.com/WNL/B757
- © 2022 American Academy of Neurology
References
Letters: Rapid online correspondence
- Author Response: Teaching NeuroImage: Leber Hereditary Optic Neuropathy With Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
- Bing Zhao, neurologist, Department of Neurology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, Shandong, 266035, C
- Yuan Sun, neurologist, Department of Neurology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, Shandong, 266035, C
- Yongqing Zhang, neurologist, Department of Neurology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, Shandong, 266035, C
- Chuanzhu Yan, neurologist, Department of Neurology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, Shandong, 266035, C
Submitted April 23, 2022 - Reader Response: Teaching NeuroImage: Leber Hereditary Optic Neuropathy With Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
- Neha K Irani, Consultant Neurologist and Neuro-opthalmologist, Royal Perth Hospital, Fiona Stanley Hospital, Joondalup Health Campus in Perth Western Australia
- Kevin D O'Connor, Consultant Neurologist and Neuroimmunologist, Royal Perth Hospital, Joondalup Health Campus in Perth Western Australia, Australia
- Jane H Lock, Consultant Neuro-ophthalmologist and Strabismus Surgeon, Royal Perth Hospital, Sir Charles Gairdner Hospital, Perth Children's Hospital, Northern Eye Surgery in Perth, Western Australia
Submitted March 27, 2022
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