Abstract Details

Title The Case for Familial Multiple Sclerosis in Von Hippel-Lindau Disease

Topic Multiple Sclerosis

Presentation(s) P11 - Poster Session 11 (11:45 AM-12:45 PM)

Poster/Presentation
Number 20-011

Objective To alert to a potential association of multiple sclerosis (MS) with Von Hippel-Lindau (VHL) disease.

Background

VHL disease is due to an autosomal dominant mutation of a tumor suppressor gene on chromosome 3 resulting in the growth of cysts and tumors. Within the brain this characteristically includes hemangioblastomas. Tumors/cysts affecting other organ systems include renal cell carcinoma, pancreatic neuroendocrine tumors, and renal/pancreas cysts. Although VHL gene mutations are associated with known central nervous system complications from hemangioblastomas, another consideration may include the development of MS.

MS is a demyelinating disorder with a neurodegenerative component and has a less clearly defined genetic contribution. Twin concordance studies have long demonstrated an inherited predisposition to MS and genome-wide association studies have since identified various loci increasing risk of MS. A recent case report described the presence of MS in a mother and daughter who have concurrent VHL disease.

Design/Methods NA

Results

Our 20-year-old female patient with past medical history of VHL disease presented with headache, Lhermitte’s sign, and mildly impaired balance. On examination she was found to have pathologically brisk reflexes of the bilateral upper and lower-extremities.

Two sets of MRIs of the brain/cervical/thoracic spine were obtained 6 months apart. Interval scan revealed new small scattered enhancing supratentorial and infratentorial lesions. There were no cystic lesions/masses found as to suggest hemangioblastomas. Updated spine imaging demonstrated resolved enhancement of a cervical cord lesion with interval development of two new short-segment and nonenhancing T2 hyperintense lesions. There were no supportive features as to suggest spinal hemangioblastoma (e.g., syrinx or mural nodule enhancement). The patient met criteria for relapsing multiple sclerosis. Moreover, the patient’s sister similarly has confirmed VHL and reportedly was also diagnosed with MS.

Conclusions Our patient case (and her sibling) with concurrent VHL and MS adds to the literature of a possible association between these two diseases.

Authors/Disclosures
Konrad Kubicki, MD (Rush University Medical Center) PRESENTER	Dr. Kubicki has nothing to disclose.
Lindsay A. Horton, MD (UT Southwestern)	Dr. Horton has nothing to disclose.
Lauren Tardo, MD (UT Southwestern Medical Center)	Dr. Tardo has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EMD Serono. Dr. Tardo has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for NeurologyLive. Dr. Tardo has received personal compensation in the range of $500-$4,999 for serving as a consultant with CanDoMS. Dr. Tardo has a non-compensated relationship as a Tardo with The MOG Project that is relevant to AAN interests or activities.

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