Disclosures: Dylan C. Tookey: No financial relationships or conflicts of interest

Case Diagnosis: 55-year-old female with chronic progressive neuropathy of unknown etiology.

Case Description or Program Description: Patient presented with a history of seemingly unrelated signs including progressive neuropathy, fibromyalgia, early onset cervical spine degenerative disk disease, spinal stenosis, lumbar spine instability, and a question of drug induced lupus. Diagnostic studies revealed several anatomic variants including bilateral Martin-Gruber anastomoses, Direct Vertebral Artery 2 variant of Bovine’s arch, bilateral anconeus epitrochlearis muscles, as well as a retroaortic left renal vein and 2 left renal arteries. Electromyography and skin biopsy showed small fiber neuropathy and large fiber polyneuropathy. Laboratory studies demonstrated weak positive anti-histone antibodies. Genetic studies were positive for methylenetetrahydrofolate reductase deficiency and 3 genetic variants (SPG11, WNK1, AIFM) however patient had no phenotypic manifestations. Physical exam was within normal limits. Family and social history did not provide contributory data.

Setting: Outpatient physical medicine and rehabilitation private practice.

Assessment/Results: To date, no definitive diagnosis has been made. Established neuropathy treatments, such as gabapentin, pregabalin, and tramadol have been tried without success, resulting in paradoxical symptom exacerbation, including the possibility of drug induced lupus. Orthopedic and neuropathic issues continue to progress and the patient experiences chronic pain affecting her activities of daily living. The patient is reluctant to try potential treatment modalities, however we hypothesize that calcitonin gene related peptide antagonists, spinal cord stimulator or intrathecal pain pump may provide symptom relief.

Discussion (relevance): To our knowledge, this is the first reported case of the presence of these anatomic and genetic variants, with chronic progressive neuropathic pain and early degenerative changes.

Conclusions: Anatomic and genetic variants with stated clinical presentations suggest a syndrome. Offspring genetic studies could provide additional information. Patient management is ongoing.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/polyneuropathy-of-unknown-etiology-in-an-adult-female-with-anatomic-variants-a-case-report/