[Autoimmune encephalitis mediated by antibodies against the N-Nethyl-N-Aspartate receptor: report of four cases in Peru]. / Encefalitis autoinmune mediada por anticuerpos contra el receptor N-Metil-N-Aspartato: reporte de cuatro casos en Perú.

Autoimmune encephalitis with antibodies against the N-methyl-D-aspartate receptor (anti-NMDAR) is a disorder mediated by antibodies against neural surface antigens, whose early diagnosis and timely treatment improve the prognosis of the disease. Four cases with the definitive diagnosis of autoimmune encephalitis by anti-NMDAR are presented, treated at the National Institute of Neurological Sciences in Lima-Peru. All patients had epileptic seizures and three cases developed a refractory epileptic state. In addition, three patients presented neuropsychiatric alterations, dyskinesias, and dysautonomia. Two cases required ventilatory support. All presented an abnormal electroencephalogram; two cases had pleocytosis in cerebrospinal fluid, and only one showed brain abnormalities on MRI. Regarding treatment, all patients received methylprednisolone immunotherapy and only two of them required plasma exchange for an ineffective response to corticosteroid treatment. After 12 months of hospital discharge, three patients were free of epileptic seizures and only one case did not achieve functional independence. These cases show that anti-NMDAR encephalitis is a treatable condition and its early recognition together with appropriate treatment (immunotherapy/plasmapheresis) are essential for a favorable evolution.

La encefalitis autoinmune por anticuerpos contra el receptor N-metil-D-aspartato (anti-NMDAR) es un desorden mediado por anticuerpos contra antígenos de superficie neuronal, cuyo diagnóstico temprano y tratamiento oportuno mejoran el pronóstico de la enfermedad. Se presentan cuatro casos con el diagnóstico definitivo de encefalitis autoinmune por anti-NMDAR, tratados en el Instituto Nacional de Ciencias Neurológicas en Lima-Perú. Todos los pacientes presentaron crisis epilépticas y tres casos desarrollaron un estado epiléptico refractario. Asimismo, tres pacientes presentaron alteraciones neuropsiquiátricas, discinesias y disautonomías. Dos casos requirieron soporte ventilatorio. Todos presentaron un electroencefalograma anormal, dos casos tuvieron pleocitosis en líquido cefalorraquídeo, y sólo uno mostró anormalidades cerebrales en la resonancia magnética. Respecto al tratamiento, todos los pacientes recibieron inmunoterapia con metilprednisolona y sólo dos de ellos requirieron plasmaféresis por respuesta ineficaz al tratamiento con corticoides. A los 12 meses del alta hospitalaria, tres pacientes quedaron libre de crisis epilépticas y sólo un caso no logró la independencia funcional. Estos casos muestran que la encefalitis anti-NMDAR es una condición tratable y su reconocimiento temprano junto con un tratamiento adecuado (inmunoterapia/plasmaféresis) son esenciales para una evolución favorable.

The First Report of CADASIL in Peru: Olfactory Dysfunction on Initial Presentation.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits. Seven members of the family have symptoms suggestive of CADASIL, with genetic testing revealing R133C mutations in the two patients who underwent genetic testing. Cognitive testing and olfactory identification testing (Smell Identification Test) were performed in three CADASIL patients revealing total anosmia in two tested patients and severe hyposmia in the other. Olfactory dysfunction has been associated with various neurologic and psychiatric conditions though few studies have linked it with neurovascular disorders such as CADASIL. This first reported case of CADASIL in Peru emphasizes that symptomatic olfactory dysfunction may be an unusual presentation of CADASIL and that olfactory dysfunction is important to evaluate in CADASIL patients.

Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort.

BACKGROUND: Late onset cases of Huntington disease (HD), with onset ≥60 years, account for up to 20% of HD cases worldwide. Clinical features include mild motor dysfunction with slow progression and cognitive impairment, frequent absence of family history and low number of CAG repeats. The clinical and molecular features of late onset HD is still understudied in Latin America. OBJECTIVES: To describe the clinical and molecular characteristics of late onset HD in a Peruvian cohort. METHODS: An observational study was carried out by reviewing the HD registry at the Neurogenetics Research Center-INCN from 2000 to 2014. Genotyping of HTT gene …was confirmed using standard PCR and PAGE in accordance to protocols previously established. RESULTS: Thirty-one late onset HD cases from 27 pedigrees were identified (9.42% of total HD cases, n = 329), 51.61% were male. Mean age at onset was 64.1 ± 4.2 and CAG repeats mean was 42.5 ± 2.5. We did not find significant correlation between age at onset and CAG repeats. 33.3% of cases were traced back to Cañete valley. Twenty-two cases had a positive family history, 14 of them with paternal transmission. Choreic movements and cognitive impairment were the main existing manifestations reported in this cohort, with lower frequency of psychiatric disturbances. CONCLUSIONS: This report of late onset HD affected individuals shows a mild phenotype expression of the disease, associated with low range of CAG repeats and up to 30% of cases with absence of clear family history. Cañete valley remains the region with more cases.

Encefalitis autoinmune mediada por anticuerpos contra el receptor N-Metil-N-Aspartato: reporte de cuatro casos en Perú / Autoimmune encephalitis mediated by antibodies against the N-Nethyl-N-Aspartate receptor: report of four cases in Peru

RESUMEN La encefalitis autoinmune por anticuerpos contra el receptor N-metil-D-aspartato (anti-NMDAR) es un desorden mediado por anticuerpos contra antígenos de superficie neuronal, cuyo diagnóstico temprano y tratamiento oportuno mejoran el pronóstico de la enfermedad. Se presentan cuatro casos con el diagnóstico definitivo de encefalitis autoinmune por anti-NMDAR, tratados en el Instituto Nacional de Ciencias Neurológicas en Lima-Perú. Todos los pacientes presentaron crisis epilépticas y tres casos desarrollaron un estado epiléptico refractario. Asimismo, tres pacientes presentaron alteraciones neuropsiquiátricas, discinesias y disautonomías. Dos casos requirieron soporte ventilatorio. Todos presentaron un electroencefalograma anormal, dos casos tuvieron pleocitosis en líquido cefalorraquídeo, y sólo uno mostró anormalidades cerebrales en la resonancia magnética. Respecto al tratamiento, todos los pacientes recibieron inmunoterapia con metilprednisolona y sólo dos de ellos requirieron plasmaféresis por respuesta ineficaz al tratamiento con corticoides. A los 12 meses del alta hospitalaria, tres pacientes quedaron libre de crisis epilépticas y sólo un caso no logró la independencia funcional. Estos casos muestran que la encefalitis anti-NMDAR es una condición tratable y su reconocimiento temprano junto con un tratamiento adecuado (inmunoterapia/plasmaféresis) son esenciales para una evolución favorable.

ABSTRACT Autoimmune encephalitis with antibodies against the N-methyl-D-aspartate receptor (anti-NMDAR) is a disorder mediated by antibodies against neural surface antigens, whose early diagnosis and timely treatment improve the prognosis of the disease. Four cases with the definitive diagnosis of autoimmune encephalitis by anti-NMDAR are presented, treated at the National Institute of Neurological Sciences in Lima-Peru. All patients had epileptic seizures and three cases developed a refractory epileptic state. In addition, three patients presented neuropsychiatric alterations, dyskinesias, and dysautonomia. Two cases required ventilatory support. All presented an abnormal electroencephalogram; two cases had pleocytosis in cerebrospinal fluid, and only one showed brain abnormalities on MRI. Regarding treatment, all patients received methylprednisolone immunotherapy and only two of them required plasma exchange for an ineffective response to corticosteroid treatment. After 12 months of hospital discharge, three patients were free of epileptic seizures and only one case did not achieve functional independence. These cases show that anti-NMDAR encephalitis is a treatable condition and its early recognition together with appropriate treatment (immunotherapy/plasmapheresis) are essential for a favorable evolution.