Abstract Details

Title NF155 IgM-Positive Combined Central and Peripheral Demyelination Presenting with a Tumefactive CNS Lesion

Topic Autoimmune Neurology

Presentation(s) P1 - Poster Session 1 (12:00 PM-1:00 PM)

Poster/Presentation
Number 1-097

Objective N/A

Background

Combined central and peripheral demyelination (CCPD) is a rare entity with T2 hyperintense lesions in the central nervous system alongside electrodiagnostic evidence of peripheral nerve demyelination. Antibody testing for neurofascin-155 (NF155), NF140, NF186, contactin 1/2, and CASPR1/2 is recommended. We present a case of NF155 IgM-positive / IgG-negative CCPD associated with tumefactive CNS lesion.

Design/Methods A 55-year-old woman developed slow progressive weakness and numbness in the distal upper and lower extremities. Local workup was negative and she presented at 63-years-old to our tertiary academic center, wheelchair bound. Nerve conduction studies showed globally absent sensory and motor nerve responses with predominantly chronic denervation on electromyography, supporting a clinical diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Prior to initiation of IVIg, she developed acute left-sided weakness and numbness. MRI revealed new T2 hyperintense right thalamic lesion with restricted diffusion and rim enhancement, raising concern for glioma vs tumefactive demyelination. Autoantibody testing revealed positive NF155 IgM and NF140 IgM, with negative IgG and IgG4 antibodies. Serial imaging demonstrated cranial nerve enhancement, periventricular and subcortical T2 lesions, and diffuse thickening of thoracic and lumbar spinal roots consistent with CCPD. Lumbar puncture showed albuminocytologic dissociation. Brain biopsy, PET/CT scan, and serologic testing were negative for alternative diagnoses. IVIg and steroid therapy yielded improved strength and functional status with decreased CNS lesion. Interval EMG/NCS after maintenance IVIg therapy is pending.

Results N/A

Conclusions This case illustrates CCPD presenting initially as CIDP with subsequent tumefactive CNS involvement years later, consistent with the timeframe between peripheral and central involvement reported in NF-positive CCPD. Most cases of NF-positive CCPD are IgG/IgG4-positive, and IgM-positive / IgG-negative cases are rare, as is NF-positive CCPD with tumefactive CNS lesions. Further studies are needed to clarify the diagnostic and clinical spectrum of NF-positive CCPD, and optimal clinical management.

Authors/Disclosures
Aatqa Memon, MD (University of Utah Medical Center) PRESENTER	Dr. Memon has nothing to disclose.
Jacob S. Tremoulis, DO	Dr. Tremoulis has nothing to disclose.
Michael I. Nsaka, MD, PhD (Penn State Neuroscience Institute)	Dr. Nsaka has nothing to disclose.
Yayoi Kumata, DO	Dr. Kumata has nothing to disclose.
Xiaowei W. Su, MD, PhD (Penn State Health Milton S. Hershey Medical Center)	The institution of Dr. Su has received research support from H. G. Barsumian, M.D. Memorial Fund.

��ɫ��

��ɫ��