Chronic inflammatory demyelinating polyradiculoneuropathy with antineurofascin-155 antibodies: first case report in Peru

Segura-Chávez D.; Sanchez-Boluarte A.; Alvarez-Toledo K.; Caciano-López J.; Tagle-Lostaunau I.; Aquino-Peña F.; Sifuentes-Monge J. · Medwave (2023) · DOI: 10.5867/medwave.2023.01.2634

Resumen

Chronic inflammatory demyelinating polyradiculoneuropathy is a clinically heterogeneous group of immune-mediated peripheral neuropathies that share neurophysiological manifesta-tions of demyelination and albuminocytologic dissociation. There are typical and atypical variants of this disease, some associated with antibodies against proteins of the node of Ranvier, such as neurofascin-155. We present the case of a 38-year-old male who presented with an eight-month history of paresthesia and progressive weakness of four limbs associated with diplopia and dysphagia. The patient was conscious, with symmetric flaccid quadriparesis of distal predominance, hypotrophy in the dorsum and palm of both hands, generalized areflexia, postural low frequency, and high amplitude tremor in upper limbs of left predominance, appendicular dysmetria, dys-diadochokinesia, ophthalmoparesis to dextroversion in the right eye, absent gag reflex, ataxic gait with an increased base of support and positive Romberg's sign. Cerebrospinal fluid showed albuminocytologic dissociation, and electromyography was com-patible with primarily demyelinating sensory-motor polyneuropathy. Due to clinical suspicion, we requested anti-neurofascin-155 antibodies, which tested positive. The patient was treated with methylprednisolone at a dose of one gram per day for five days, followed by one milligram per kilogram for three months of prednisone, with progressive de-crease, which improved diplopia and dysphagia, with no effect on limb strength and even worsening of function. For this reason, treatment with rituximab was started in doses of two grams, presenting a substantial improvement in distal muscle strength, tremor, gait stability, coordination, and functionality measured with the modified Rankin scale.

Instituciones: Universidad Peruana Cayetano Heredia