Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study.

OBJECTIVE: The study aimed to describe the cases of neurological disease related to the outbreak of enterovirus (EV) in three regions in Northern Spain during 2016. MATERIALS AND METHODS: Multicenter retrospective observational study. Clinical, radiological, and microbiological data were analyzed from patients younger than 15 years with confirmed EV-associated neurological disease admitted to 10 hospitals of Asturias, Cantabria, and Castile and Leon between January 1 and December 31, 2016. RESULTS: Fifty-five patients were included. Median age was 24 months (interquartile range = 18.5 months). Fifteen patients were classified as aseptic meningitis (27.3%). In total, 37 cases presented brainstem encephalitis (67.3%), 25 of them due to EV-A71 with excellent prognosis (84.6% asymptomatic 2 months following the onset). Three cases of acute flaccid myelitis (5.5%) by EV-D68 were reported and presented persistent paresis 2 months following the onset. Microbiological diagnosis by reverse transcriptase polymerase chain reaction was performed in all cases, finding EV in cerebrospinal fluid in meningitis, but not in brainstem encephalitis and acute flaccid myelitis, where EV was found in respiratory or rectal samples. Step therapy was administrated with intravenous immunoglobulin (IVIG; 32.7%), methylprednisolone (10%), and plasmapheresis (3.6%). Four patients received fluoxetine (7.3%). Twenty patients needed to be admitted to pediatric intensive care unit (36.4%). CONCLUSION: Clinical, microbiological, and radiological diagnosis is essential in outbreaks of EV neurological disease, taking into account that it can be difficult to identify EV-A71 and EV-D68 in CSF, requiring throat or rectal samples. There is not specific treatment to these conditions and the efficacy and understanding of the mechanism of action of immune-modulatory treatment (IVIG, corticosteroids, and plasmapheresis) is limited.

Lesiones Cutáneas En Paciente Con Infección Por Sars-Cov-2 / Skin lesions in a patient with sars-cov-2 infection

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Osteopetrosis, acidosis tubular renal, calcificaciones cerebrales: caso familiar / Osteopetrosis, renal tubular acidosis, cerebral calcifications: a familial case

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Encefalopatía epiléptica de inicio precoz en un paciente con mutación en SCN8A / Early onset epileptic encephalopathy in a patient with mutation in SCN8A

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Crisis parainfecciosas: estudio retrospectivo multicéntrico / Para-infectious seizures: a retrospective multicentre study

INTRODUCCIÓN: Las crisis parainfecciosas son crisis convulsivas afebriles en el contexto de infecciones banales en niños sin afectación neurológica, siendo aún una patología poco conocida en nuestro medio. MÉTODOS: Estudio retrospectivo multicéntrico donde se incluye a pacientes con crisis única o múltiple en el contexto de una infección banal afebril, con desarrollo psicomotor normal. RESULTADOS: Se recogió a 38 pacientes (47% varones, 53% mujeres) en un periodo de 3 años (2012-2015) con edad media de 2,1 años. El 7,9% presentaba antecedentes de crisis febriles. La media de crisis por paciente fue de 2,2, siendo el 57,9% crisis tónico-clónicas generalizadas, con una duración media de 3,2 min. Se realizó electroencefalograma durante su ingreso al 73,7%. Se efectuó punción lumbar en un 34,2% (todas normales) y prueba de neuroimangen en el 36,9%, siendo la más realizada la RM craneal en el 21,1%, sin hallazgos patológicos. El proceso infeccioso más frecuente (68%) fue tener gastroenteritis aguda seguida de la infección respiratoria de vías altas (32%). El 63,2% no precisó medicación anticomicial. En urgencias el fármaco más usado fue el diazepam rectal. Posteriormente, debido a la agrupación de crisis, un 28,9% de los casos precisó administración de fármacos por vía intravenosa (el más usado fue el ácido valproico), manteniéndose en el 16% tratamiento antiepiléptico al alta. El 76,3% de los pacientes fue diagnosticado al alta de crisis parainfecciosas. CONCLUSIONES: Es fundamental el conocimiento de las crisis parainfecciosas, su diagnóstico clínico y evolución benigna, ya que su identificación evita la realización de pruebas complementarias y tratamientos innecesarios

INTRODUCTION: Para-infectious seizures are afebrile seizures that are associated with mild infections, and occur in children with no pre-existing neurological illness. They are still little known in our environment. METHODS: A multicentre retrospective study was conducted that included patients with normal psychomotor development and had presented with one or more seizures in the context of a mild afebrile infection. RESULTS: A total of 38 patients (47% male, 53% female) were included in the study over a period of three years (2012-2015). The mean age was 2.1 years. A previous history of febrile seizures was found in 7.9% of them. Mean number of seizures per patient was 2.2, with 57.9% of them being tonic-clonic seizures. The mean duration of seizures was 3.2minutes. An EEG was performed during admission in 73.7% of cases. Lumbar punctures were performed in 34.2% of cases. All were normal. Neuroimaging tests were carried out in 36.9% of cases. Brain MRI was the imaging test performed in most cases (21.1%), with no any pathological findings. The most frequent infection found was acute gastroenteritis (68%), followed by upper respiratory tract infection (32%). Almost two-thirds (63.2%) of patients did not require anticonvulsant medication. Rectal diazepam was the most frequently used drug in emergencies. Intravenous medication was required by 28.9% of patients due to repeated seizures. The most frequently used drug in the non-emergency setting was valproic acid. Anticonvulsant treatment was continued after discharge in 16% of patients. Para-infectious seizures was the diagnosis in 76.3% of cases when discharged. CONCLUSIONS: Knowledge of para-infectious seizures, their clinical diagnosis and benign course is crucial, as this would avoid further testing and unnecessary treatments

[Para-infectious seizures: A retrospective multicentre study]. / Crisis parainfecciosas: estudio retrospectivo multicéntrico.

INTRODUCTION: Para-infectious seizures are afebrile seizures that are associated with mild infections, and occur in children with no pre-existing neurological illness. They are still little known in our environment. METHODS: A multicentre retrospective study was conducted that included patients with normal psychomotor development and had presented with one or more seizures in the context of a mild afebrile infection. RESULTS: A total of 38 patients (47% male, 53% female) were included in the study over a period of three years (2012-2015). The mean age was 2.1 years. A previous history of febrile seizures was found in 7.9% of them. Mean number of seizures per patient was 2.2, with 57.9% of them being tonic-clonic seizures. The mean duration of seizures was 3.2minutes. An EEG was performed during admission in 73.7% of cases. Lumbar punctures were performed in 34.2% of cases. All were normal. Neuroimaging tests were carried out in 36.9% of cases. Brain MRI was the imaging test performed in most cases (21.1%), with no any pathological findings. The most frequent infection found was acute gastroenteritis (68%), followed by upper respiratory tract infection (32%). Almost two-thirds (63.2%) of patients did not require anticonvulsant medication. Rectal diazepam was the most frequently used drug in emergencies. Intravenous medication was required by 28.9% of patients due to repeated seizures. The most frequently used drug in the non-emergency setting was valproic acid. Anticonvulsant treatment was continued after discharge in 16% of patients. Para-infectious seizures was the diagnosis in 76.3% of cases when discharged. CONCLUSIONS: Knowledge of para-infectious seizures, their clinical diagnosis and benign course is crucial, as this would avoid further testing and unnecessary treatments.

[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases]. / Variaciones fenotípicas en el síndrome de Aicardi-Goutières causado por mutaciones en el gen RNASEH2B: presentación de dos nuevos casos.

INTRODUCTION: Aicardi-Goutieres syndrome is a rare immune disorder due to mutations in seven different genes that encode proteins called TREX1, ribonuclease H2 complex, SAMHD1, ADAR and IDIH1 (MDA5), which are involved in acid nucleic metabolism. Two cases are described in detail below caused by RNASEH2B gene mutation, one of which displays a mutation no described to date. CASE REPORTS: Case 1: male consulting because from 5-month-old shows loss of maturity items acquired until then, coming with several fever episodes. Case 2: a 4-month-old boy showing since 2-month-old great irritability and oral-feeding trouble with severe psychomotor impairment. In both cases it was found an increase of pterines in the cerebrospinal fluid, mainly neopterine, with calcifications in the basal ganglia. The diagnosis was proved by sequencing RNASEH2B gene, founding in case 2 a new mutation not described previously. CONCLUSIONS: The reported cases belong to the description already done by Aicardi-Goutieres, it should be noticed this syndrome in a patient with a subacute encephalopathy of debut in the first year of life, dystonia/spasticity in variable degree and important affectation/regression of psychomotor development, particularly in those with increase of pterines (neopterine) in the cerebrospinal fluid and calcifications in the basal ganglia.

TITLE: Variaciones fenotipicas en el sindrome de Aicardi-Goutieres causado por mutaciones en el gen RNASEH2B: presentacion de dos nuevos casos.Introduccion. El sindrome de Aicardi-Goutieres es un trastorno inmunitario raro debido a mutaciones en siete genes que codifican proteinas llamadas TREX1, el complejo ribonucleasa H2, SAMHD1, ADAR e IFIH1 (MAD5), las cuales estan implicadas en el metabolismo de los acidos nucleicos. A continuacion se presentan dos nuevos casos por mutacion en el gen RNASEH2B, uno de los cuales presenta una mutacion no descrita hasta la fecha. Casos clinicos. Caso 1: varon que consulto porque desde los 5 meses, coincidiendo con cuadros febriles de repeticion, presentaba perdida de los items madurativos adquiridos hasta la fecha. Caso 2: niño de 4 meses que desde los 2 meses mostraba gran irritabilidad con dificultades en la alimentacion, asociado a un grave retraso psicomotor. En ambos casos se constato un aumento de las pterinas en el liquido cefalorraquideo, principalmente de la neopterina, con calcificaciones en los ganglios basales. El diagnostico se confirmo mediante secuenciacion del gen RNASEH2B; el caso 2 presentaba una mutacion no descrita en la literatura medica. Conclusiones. Los casos corresponden a la descripcion clasica realizada por Aicardi-Goutieres. Debe tenerse en cuenta este sindrome ante un paciente con un cuadro de encefalopatia subaguda de comienzo en el primer año de vida, distonia/espasticidad en grado variable e importante afectacion/regresion del desarrollo psicomotor, especialmente si asocia aumento de las pterinas (neopterina) en el liquido cefalorraquideo y calcificaciones en los ganglios basales.

Variaciones fenotípicas en el síndrome de Aicardi-Goutières causado por mutaciones en el genRNASEH2B: presentación de dos nuevos casos / Phenotypic variations in Aicardi-Goutières syndrome caused by RNASEH2B gene mutations: report of two new cases

Introducción. El síndrome de Aicardi-Goutières es un trastorno inmunitario raro debido a mutaciones en siete genes que codifican proteínas llamadas TREX1, el complejo ribonucleasa H2, SAMHD1, ADAR e IFIH1 (MAD5), las cuales están implicadas en el metabolismo de los ácidos nucleicos. A continuación se presentan dos nuevos casos por mutación en el gen RNASEH2B, uno de los cuales presenta una mutación no descrita hasta la fecha. Casos clínicos. Caso 1: varón que consultó porque desde los 5 meses, coincidiendo con cuadros febriles de repetición, presentaba pérdida de los ítems madurativos adquiridos hasta la fecha. Caso 2: niño de 4 meses que desde los 2 meses mostraba gran irritabilidad con dificultades en la alimentación, asociado a un grave retraso psicomotor. En ambos casos se constató un aumento de las pterinas en el líquido cefalorraquídeo, principalmente de la neopterina, con calcificaciones en los ganglios basales. El diagnóstico se confirmó mediante secuenciación del gen RNASEH2B; el caso 2 presentaba una mutación no descrita en la literatura médica. Conclusiones. Los casos corresponden a la descripción clásica realizada por Aicardi-Goutières. Debe tenerse en cuenta este síndrome ante un paciente con un cuadro de encefalopatía subaguda de comienzo en el primer año de vida, distonía/espasticidad en grado variable e importante afectación/regresión del desarrollo psicomotor, especialmente si asocia aumento de las pterinas (neopterina) en el líquido cefalorraquídeo y calcificaciones en los ganglios basales (AU)

Introduction. Aicardi-Goutières syndrome is a rare immune disorder due to mutations in seven different genes that encode proteins called TREX1, ribonuclease H2 complex, SAMHD1, ADAR and IDIH1 (MDA5), which are involved in acid nucleic metabolism. Two cases are described in detail below caused by RNASEH2B gene mutation, one of which displays a mutation no described to date. Case reports. Case 1: male consulting because from 5-month-old shows loss of maturity items acquired until then, coming with several fever episodes. Case 2: a 4-month-old boy showing since 2-month-old great irritability and oral-feeding trouble with severe psychomotor impairment. In both cases it was found an increase of pterines in the cerebrospinal fluid, mainly neopterine, with calcifications in the basal ganglia. The diagnosis was proved by sequencing RNASEH2B gene, founding in case 2 a new mutation not described previously. Conclusions. The reported cases belong to the description already done by Aicardi-Goutières, it should be noticed this syndrome in a patient with a subacute encephalopathy of debut in the first year of life, dystonia/spasticity in variable degree and important affectation/regression of psychomotor development, particularly in those with increase of pterines (neopterine) in the cerebrospinal fluid and calcifications in the basal ganglia (AU)