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.

Brainstem syndrome at onset is related to an early MS diagnosis in Peru: A national referral center cohort.

BACKGROUND: MS is unpredictable regarding clinical symptoms; however, certain symptoms represent the preferred localization of white matter lesions such as brainstem, spinal cord; or optic nerve. OBJECTIVES: To investigate the epidemiological, clinical, and imaging characteristics of MS patients in a national referral center in Peru, and to evaluate whether the type of symptom at onset relates with the time to making an MS diagnosis. METHODS: Retrospective study of MS patients at the Instituto Nacional de Ciencias Neurológicas between January 2010 and December 2018. Four different syndromes were selected for analysis as symptom onset (optic neuritis, brainstem syndrome, myelitis, and others). RESULTS: we identified 268 patients for whom a diagnosis of MS had been given; after excluding misdiagnosed patients (33 Neuromyelitis optica), lost or incomplete records, 121 patients were included. The majority of patients (46.6%) were born in Lima. Female to male ratio was 1.37 to 1, mean age at diagnosis was 31 years. At onset, myelitis was present in 35% of RRMS patients, followed by brainstem syndrome (25%) and optic neuritis (18%). Brainstem syndrome was statistically significant predictor for earlier diagnosis (adjusted HR: 2.09; p = 0.015). CONCLUSION: Brainstem syndrome as an initial presentation of MS in Peru is related to an earlier diagnosis.

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.

Knowledge and Attitudes for the Management of Behavioral Variant of Frontotemporal Dementia.

Background: The diagnosis of the behavioral variant of frontotemporal dementia (bvFTD) can be especially challenging and is relatively underdiagnosed. There is scarce information on training and attitudes from care providers facing bvFTD in settings with limited resources. We aim to describe clinical knowledge and attitudes facing bvFTD from neurologists, psychiatrists, and residents in Peru. Methods: Potential participants received invitations by email to complete an online questionnaire. In addition, we reviewed 21 curricula from undergraduate medical schools' programs offered by the main schools of medicine in Peru during 2020 and 2021. Results: A total of 145 participants completed the survey. The responders were neurologists (51%), psychiatrists (25%), and residents in neurology or psychiatry (24%). Only 26% of the respondents acknowledged receiving at least one class on bvFTD in undergraduate medical training, but 66.6% received at least some training during postgraduate study. Participants identified isolated supportive symptoms for bvFTD; however, only 25% identified the possible criteria and 18% the probable bvFTD criteria. They identified MoCA in 44% and Frontal Assessment Battery (39%) as the most frequently used screening test to assess bvFTD patients. Memantine and Acetylcholinesterase inhibitors were incorrectly indicated by 40.8% of participants. Seventy six percentage of participants indicated that they did not provide education and support to the caregiver. The dementia topic was available on 95.2%, but FTD in only 19%. Conclusion: Neuropsychiatry medical specialists in Peru receive limited training in FTD. Their clinical attitudes for treating bvFTD require appropriate training focused on diagnostic criteria, assessment tools, and pharmacological and non-pharmacological management.

Características del estado cognitivo de pacientes con esclerosis múltiple remitente - recurrente durante el brote en el Instituto Nacional de Ciencias Neurológicas 2014 - 2016 / Cognitive characteristics of patients with relapsing - remitting multiple sclerosis during relapse attended inNational Institute of Neurological Sciences 2014 - 2016

La Esclerosis Múltiple (EM) es una enfermedad desmielinizante del sistema nervioso central. Puede manifestarse con una amplia variedad de síntomas. El compromiso cognitivo tiene una prevalencia de 45% aproximadamente durante la enfermedad. Objetivos: Determinar las características clínicas del estado cognitivo durante el brote en pacientes hospitalizados con EM remitente - recurrente. Material y Métodos: Se realizó una descripción transversal de 13 pacientes con diagnóstico de EM entre enero 2014 a diciembre 2016 del Instituto Nacional de Ciencias Neurológicas. Se aplicó la prueba Addenbrooke's Cognitive Examination (ACE) versión peruana para la exploración cognitiva durante la hospitalización. La escala de discapacidad ampliada de Kurtzke fue usada en la evaluación clínica. En la determinación de comorbilidades psiquiátricas se empleó la escala de depresión y ansiedad de Hamilton. Resultados: La puntuación media de la prueba ACE fue 89,62 puntos. El rendimiento en cada dominio cognitivo mostró una tendencia de puntuaciones altas. El 38,46% tuvo algún grado de depresión o ansiedad. El deterioro cognitivo estuvo presente en un 15,38%. Conclusiones: Se encontró compromiso cognitivo en el brote clínico de los pacientes hospitalizados con EM-RR. Se sugiere realizar estudios con mayores muestras, y posteriores a brotes clínicos y uso de corticoides.

Multiple sclerosis (MS) is a demyelinating disease of the central nervous system. It can manifest with a wide variety of symptoms. Cognitive involvement has a prevalence of approximately 45% during the disease. Objectives: To determine clinical characteristics of cognitive during relapse in hospitalized patients with relapsing - remitting MS. Methods: A cross-sectional description was made that included 13 patients diagnosed with MS, between January 2014 and December 2016 of National Institute of Neurological Sciences. The Peruvian version of Addenbrooke's Cognitive Examination (ACE) was applied to the Peruvian version for cognitive exploration during hospitalization. The Kurtzke extended disability scale was used in the clinical evaluation. In the determination of psychiatric comorbidities, Hamilton's depression and anxiety scale were used. Results: The average score of the ACE test was 89.62 points. The performance in each cognitive domain showed a trend of high scores. 38.46% had some degree of depression or anxiety. Cognitive impairment was present in 15.38%. Conclusions: Cognitive impairment was found in hospitalized patients with RR - MS. It is suggested to perform studies with larger samples, and after clinical relapses and steroid use.

Goma sifilítica intracraneal en un paciente adolescente VIH seronegativo: reporte de un caso / Intracranial syphilitic gummain an HIV negative adolescent patient: a case report

La sífilis es una enfermedad sistémica causada por la espiroqueta Treponema pallidum que compromete al sistema nervioso central en cualquier etapa y cuyas presentaciones clínicas se modificaron en las últimas décadas. Se presenta el caso de un varón de 16 años con antecedentes de conducta sexual de riesgo y sífilis hace 3 años, sin recibir tratamiento. Acude por cefalea y disminución de visión hace 4 meses. Evaluación inicial objetiva hemianopsia homónima derecha, edema papilar bilateral y retinopatía exudativa izquierda. Pruebas serológicas de sífilis reactivas, VIH: no reactivo. Resonancia magnética de encéfalo: proceso expansivo en lóbulo occipital izquierdo captador de contraste. Recibió tratamiento para sífilis por 3 días y por sospecha inicial de proceso neoproliferativo se realizó biopsia que evidenció proceso granulomatosocrónico sifilítico. En su reingreso, mostró mayor compromiso de agudeza y defecto del campo visual. Potenciales evocados visuales: ausente en ambos ojos. Se inició Penicilina G sódica por 4 semanas (por evidencia de mejoría imagenológica) asociado a corticoides, encontrando disminución serológica y discreta mejoría clínica al término del tratamiento. La neurosífilis gomatosa esuna presentación infrecuente de la sífilis terciaria debiéndose considerar como diagnóstico diferencial en lesiones expansivas intracraneales en individuos VIHseronegativos con serología de sífilis reactiva.

Syphilis is a systemic disease caused by the spirochete Treponema pallidum which can compromise the central nervous system at any stage and whose clinical presentations have been modified in recent decades. Were port the case of a 16 years old male with a 3-years history of sexual risk behavior and syphilis with no treatment who experienced headache and decreased vision for four months. Initial assessment showed right homonymous hemianopia, bilateral papilledema and left exudative retinopathy. Serological tests for syphilis: reactive HIV: non-reactive. Brain MRI revealed a single irregularly enhancing lesion in the left occipital lobe. He received treatment for syphilis for three days, and stereotactic biopsies were performed by the initial suspicion of brain tumour. Histological examination showed a chronic granulomatous consistent with neurosyphilis. In his read mission, greater affectation of acuity and visual field defect was evident. Visual evoked potentials: absent in both eyes. Penicillin G sodium was initiated for 4weeks (for evidence of improvement imagenological)associated with corticosteroids, showing serological and discrete clinical improvement at the end of treatment decreased. The gummatous neurosyphilisis a rare form of tertiary syphilis which ever considered as differential expansive intracranial lesions in HIV-seronegative individuals with reactive syphilis serology.

Síndrome opsoclonus-mioclonus idiopático en paciente adulto: reporte de caso / Idiopathic opsoclonus-myoclonus syndrome in an adult patient: a case report

Presentamos el caso de un paciente de 31 años con el síndrome de opsoclonus-mioclonus, entidad poco frecuente caracterizada por movimientos oculares multidireccionales (opsoclonus) y mioclonías, el cual puede estar asociado a ataxia, temblor y alteración del estado de conciencia. Es una entidad descrita como manifestación infecciosa secundaria, paraneoplásica o idiopática, siendo las etiologías más frecuentes en la población adulta. Existe evidencia de un mecanismo inmunológico en su patogénesis por lo que el tratamiento con esteroides y/o drogas inmunomoduladoras es ampliamente empleado aunque no existen estudios que soporten su uso prolongado en la evolución favorable del cuadro. Nuestro paciente recibió tratamiento esteroideo precoz y se observó mejoría y recuperación temprana. Es importante el reconocimiento de este cuadro por la posibilidad de estar relacionado a neoplasias subyacentes.

We report a case of 31 a year old male patient with opsoclonus-myoclonus syndrome, a rare entity which is characterized by multidirectional eye movements (opsoclonus) and myoclonus. It can be associated with ataxia, tremor and altered level of consciousness. This entity is reported as secondary manifestation of infectious, paraneoplastic or idiopathic disease, the more common etiologies in adult population. There is evidence of an immunological mechanism involved in its pathogenesis. The treatment with steroids and/or immunomodulator drugs is widely used although there are no trials supporting its long term use in clinical improvement. Our patient received early steroid treatment with a prompt improvement and recovery. It is important to recognize this entity for the possibility of being related with underlying malignancies.