Case report of a severe presentation of anti-contactin-1 nodopathy

A 46-year-old, previously healthy woman presented via telemedicine with 14 months of progressive asymmetrical weakness, numbness, paresthesias and tremors. History and clinical exam findings suggested a peripheral etiology resembling a variant CIDP presentation. Electrodiagnostic testing identified only one motor nerve with signs of demyelination; the remainder of motor and sensory nerves were unable to be evoked. MRI showed diffuse enhancement of the trigeminal nerve and cauda equina. CSF revealed albuminocytologic dissociation. The patient was treated empirically with methylprednisolone for a clinically suspected variant of CIDP, more specifically a nodo-paranodopathy. Two weeks after initiation of steroid treatment, cerebrospinal fluid and serum yielded antibodies to contactin-1 which coincided with our clinical suspicion for an autoimmune nodo-paranodopathy, which is known to be refractory to IVIG. Rituximab was added given the patient’s severe presentation at the time of diagnosis. The autoimmune nodo-paranodopathies are treatable, even in the case of a severe presentation. Lack of clinician awareness and delay in diagnosis can be detrimental as in the case of our nearly paralyzed patient. It is important to raise awareness of the disease, its presentation and therapeutic management since early diagnosis and correct treatment is paramount for neurological recovery.