Abstract Details

Title Syringomyelia with Cystic Fibrosis: A Case Report and Literature Review

Topic General Neurology

Presentation(s) P1 - Poster Session 1 (5:30 PM-6:30 PM)

Poster/Presentation
Number 4-049

Objective To report a case of a young female with cystic fibrosis (CF) presenting with symptomatic syringomyelia and to propose unique pathophysiology regarding the development of syringomyelia in CF patients.

Background Typical neurologic complications of CF include pseudotumor cerebri and peripheral neuropathy. Syringomyelia has only been associated with CF in the setting of Chiari malformations.

Design/Methods NA

Results A 24-year-old Hispanic female with CF presented with 3 days of progressive left sided numbness, weakness, and left arm pain. Neurological exam was notable for decreased sensation to light touch, pinprick, and temperature in her left face, arm, leg, and her cervical to upper thoracic trunk bilaterally. She had 4/5 muscle strength in her left upper and left lower extremities in addition to hyperreflexia and clonus. There was no history of prior trauma or surgeries, CNS infections, or autoimmune diseases. MRI Brain was normal but MRI spine with and without contrast showed a syrinx extending from C3 to T12. A lumbar puncture was performed with normal opening pressure and CSF studies were unrevealing for any infectious or inflammatory processes. Her vitamin A level was 0.34 mg/L, which was improved from 0.27 mg/L last year (normal 0.30-1.20 mg/L). Medications were initiated to treat her neuropathic pain along with a trial of acetazolamide to decrease CSF production. She was discharged home with PT and OT with the diagnosis of idiopathic syringomyelia. This is the first reported case of isolated syringomyelia in a CF patient based on literature review. Factors that may implicate their CSF hydrodynamics include micronutrient deficiency or toxicity, hypoxia or hypercapnia, and frequent Valsalva. In addition, the widespread expression of cystic fibrosis transmembrane conductance regulator (CFTR) found in human spinal cord suggests its likely involvement in maintaining normal spinal cord function.

Conclusions Syringomyelia may be an unforeseen neurological consequence of cystic fibrosis.

Authors/Disclosures
Charlotte Zhong, DO (University of Southern California, LA County) PRESENTER	No disclosure on file
Benjamin Emanuel, DO	Dr. Emanuel has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Reback McAndrews Blessey.

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