Polirradiculoneuropatía desmielinizante inflamatoria crónica con anticuerpos antineurofascina-155: primer reporte de caso en Perú / Chronic inflammatory demyelinating polyradiculoneuropathy with antineurofascin-155 antibodies: A first case report in Peru

La polirradiculoneuropatía desmielinizante inflamatoria crónica, es un grupo de neuro-patías periféricas inmunomediadas clínicamente heterogéneas que comparten manifes-taciones neurofisiológicas de desmielinización y disociación albuminocitológica. Se distinguen una forma típica y variantes atípicas, algunas asociadas a anticuerpos con-tra proteínas del nodo de Ranvier, como la neurofascina- 155. Presentamos el caso de un varón de 38 años, que acudió por cuadro de ocho meses de evolución, caracterizado por parestesias y debilidad progresiva de cuatro extremidades, asociado a diplopía y disfagia. El paciente estaba despierto, con cuadriparesia flácida simétrica de predominio distal, hipotrofia en dorso y palma de ambas manos, arreflexia generalizada, temblor postural de baja frecuencia y alta amplitud en miembros superiores de predominio izquierdo, dismetría apendicular, adiadococinesia, oftalmoparesia a la dextroversión en ojo dere-cho, reflejo nauseoso ausente, marcha atáxica con aumento de base de sustentación y signo de Romberg positivo. El líquido cefalorraquideo mostró disociación albuminocitológica y la electromiografía fue compatible con polineuropatía sensitivo- motora primariamente desmielinizante. Por la sospecha clínica, solicitamos anticuerpos antineurofascina- 155, que resultaron positivos. Recibió tratamiento con metilprednisolona a dosis de un gramo al día durante cinco días, seguido de un miligramo por kilogramo durante tres meses de prednisona, con disminución progresiva con lo que mejoró la diplopía y la disfagia, sin mejoría de la fuerza en extremidades e incluso empeoramiento de la funcionabilidad. Por esta razón se inició tratamiento con rituximab en dosis de dos gramos presentando una notable mejoría en la fuerza muscular distal, el temblor, la estabilidad de la marcha, coordinación y de su funcionabilidad medida con la escala de Rankin modificado.

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 par-esthesia and progressive weakness of four limbs associated with diplopia and dysphagia. The patient was conscious, with symmetric flaccid quadriparesis of distal predominance, hyp-otrophy 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.

Chronic inflammatory demyelinating polyradiculoneuropathy with antineurofascin-155 antibodies: A first case report in Peru. / Polirradiculoneuropatía desmielinizante inflamatoria crónica con anticuerpos antineurofascina-155: primer reporte de caso en Perú.

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 par-esthesia and progressive weakness of four limbs associated with diplopia and dysphagia. The patient was conscious, with symmetric flaccid quadriparesis of distal predominance, hyp-otrophy 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.

La polirradiculoneuropatía desmielinizante inflamatoria crónica, es un grupo de neuro-patías periféricas inmunomediadas clínicamente heterogéneas que comparten manifes-taciones neurofisiológicas de desmielinización y disociación albuminocitológica. Se distinguen una forma típica y variantes atípicas, algunas asociadas a anticuerpos con-tra proteínas del nodo de Ranvier, como la neurofascina- 155. Presentamos el caso de un varón de 38 años, que acudió por cuadro de ocho meses de evolución, caracterizado por parestesias y debilidad progresiva de cuatro extremidades, asociado a diplopía y disfagia. El paciente estaba despierto, con cuadriparesia flácida simétrica de predominio distal, hipotrofia en dorso y palma de ambas manos, arreflexia generalizada, temblor postural de baja frecuencia y alta amplitud en miembros superiores de predominio izquierdo, dismetría apendicular, adiadococinesia, oftalmoparesia a la dextroversión en ojo dere-cho, reflejo nauseoso ausente, marcha atáxica con aumento de base de sustentación y signo de Romberg positivo. El líquido cefalorraquideo mostró disociación albuminocitológica y la electromiografía fue compatible con polineuropatía sensitivo- motora primariamente desmielinizante. Por la sospecha clínica, solicitamos anticuerpos antineurofascina- 155, que resultaron positivos. Recibió tratamiento con metilprednisolona a dosis de un gramo al día durante cinco días, seguido de un miligramo por kilogramo durante tres meses de prednisona, con disminución progresiva con lo que mejoró la diplopía y la disfagia, sin mejoría de la fuerza en extremidades e incluso empeoramiento de la funcionabilidad. Por esta razón se inició tratamiento con rituximab en dosis de dos gramos presentando una notable mejoría en la fuerza muscular distal, el temblor, la estabilidad de la marcha, coordinación y de su funcionabilidad medida con la escala de Rankin modificado.

Clinical and paraclinical profile of neuromyelitis optic spectrum disorder in a peruvian cohort.

BACKGROUND: Neuromyelitis Optica Spectrum Disorders (NMOSD) is an autoimmune, inflammatory disorder of the Central Nervous System that typically involves the spinal cord and the optic nerves. Recently, the clinical and radiological spectrum of NMOSD has been increasing in Latin America. In Peru, there have only been a few clinical reports on NMOSD published. For this reason, we aimed to assess the clinical and paraclinical characteristics of patients with NMOSD from a tertiary-level neurological center in Lima-Peru. METHODS: This is a descriptive study. We assessed medical reports of patients with NMOSD based on the 2015 diagnostic criteria attended in a goverment institute (Instituto Nacional de Ciencias Neurologicas) from Peru between 2013-2019. Those patients who met diagnostic criteria were selected and analyzed. We analyzed continuous data among groups (AQP4-IgG seropositive and AQP4-IgG seronegative/unknow). RESULTS: We identified 58 clinical records that met the selection criteria and were included in the study. The highest percentage of patients (53%) were born in the north of Peru (from parallel 0°01'48''S - 6°56'38''S). NMOSD were more prevalent in women (86%), the male:female ratio was 1:6, the mean age at diagnosis was 50 years. AQP4-IgG antibodies were tested in (63.8%), 62% of whom were seropositive and 38% seronegative. The frequency of EO-NMO and LO-NMO was 34.8% and 65.2% in AQP4-IgG seropositive patients, respectively. Unknown AQP4-IgG was found 21 patients. In LO-NMOSD group, AQP4-IgG seropositive was found in a higher percentage. Optic neuritis was the first clinical event at 40% . In the patients who presented myelitis as the first clinical event, 18.2% were AQP4-IgG seropositive, while only 4.8% was found in the rest of the patients. 17% had other associated autoimmune diseases and 16% had anti-nuclear antibodies. 79% of patients had low vitamin D-25(OH) levels (<30ng/ml). Orbit MRI showed unilateral optic neuritis in 46.6%. Spinal cord MRIs showed extensive longitudinal myelitis in 52% of patients and the thoracic segment was the most frequently affected (47%). CONCLUSIONS: In the present study of a peruvian NMOSD cohort, we found a higher frequency of unilateral optic neuritis cases, and a higher percentage of AQP4-IgG seropositive patients among those older than 50.

Acute disseminated encephalomyelitis and COVID-19: A systematic synthesis of worldwide cases.

Acute disseminated encephalomyelitis (ADEM) has been reported after coronavirus disease 2019 (COVID-19). In this review, we systematically included worldwide reported cases on this association. We included 30 case reports (pediatric and adults) and explored epidemiological and clinical evidence. We described time to diagnosis, clinical, imaging, and laboratory features, response to treatment regimens, and differences regarding severity. Also, an original case report was presented. Neurologists must be alert to the occurrence of multifocal neurological symptoms with or without encephalopathy in patients recovered from COVID-19. Timely MRI studies should be performed to establish the diagnosis and to consider early corticosteroid-based treatment.

Autoimmune neurology: Co-occurrence of anti-NMDAR encephalitis and anti-MOG associated disease, report of a case.

We report the case of a patient with symptoms of anti-NMDAR encephalitis and anti-MOG associated disease simultaneously, in whom the identification of antibodies guided to a more aggressive treatment strategy, resulting in a good clinical outcome. MRI is an important tool to diagnose this kind of patients. The co-occurrence of both diseases in infrequent, but atypical symptoms should increase our awareness of the possibility of an overlap syndrome.