Encefalitis antirreceptor de NMDA: dos casos pediátricos / Anti-NMDA receptor encephalitis: two paediatric cases

Introducción. La encefalitis asociada a anticuerpos antirreceptores de N-metil-D-aspartato (NMDA) es una patología neurológica autoinmune documentada en la población pediátrica de manera creciente en los últimos años. Se presentan dos casos de nuestra experiencia con clínica similar. Casos clínicos. Caso 1: niña de 5 años que inicia un cuadro de convulsiones y alteración de conciencia, asociando trastornos del movimiento y regresión de habilidades previamente adquiridas que evoluciona a autismo. Caso 2: niña de 13 años que presenta hemiparesia izquierda, movimientos anómalos, trastorno de conducta y disautonomía. En ambos casos se obtienen anticuerpos antirreceptores de NMDA positivos en el líquido cefalorraquídeo y se diagnostican de encefalitis antirreceptor de NMDA. En el primer caso se inicia el tratamiento con perfusión intravenosa de corticoides e inmunoglobulinas y es necesario asociar rituximab. En el segundo, corticoides e inmunoglobulinas. La evolución fue favorable en ambas pacientes, con una leve alteración del lenguaje como secuela en el primer caso y una recaída en el segundo caso, con resolución completa. Conclusión. La encefalitis antirreceptor de NMDA es un trastorno tratable y es importante el diagnóstico y tratamiento precoz, ya que mejora el pronóstico y disminuye las recaídas (AU)

Introduction. Encephalitis associated to anti-N-methyl D-aspartate (NMDA) receptor antibodies is an autoimmune neurological pathology that has been reported increasingly more frequently in the paediatric population in recent years. We report two cases from our own experience with similar clinical pictures. Case reports. Case 1: a 5-year-old girl who began with clinical signs and symptoms of convulsions and altered consciousness, associated to movement disorders and regression of previously acquired abilities that developed into autism. Case 2: a 13-year-old girl who presented left-side hemiparesis, abnormal movements, conduct disorder and dysautonomia. In both cases positive anti-NMDA receptor antibodies were obtained in cerebrospinal fluid and they were diagnosed with anti-NMDA receptor encephalitis. In the first case, treatment was established with intravenous perfusion of corticoids and immunoglobulins, and rituximab also had to be associated. In the second case, treatment consisted in corticoids and immunoglobulins. Progress was favourable in both cases, with a slight language disorder as a sequela in the first case and a relapse in the second case, with full resolution. Conclusions. Anti-NMDA receptor encephalitis is a treatable disorder and early diagnosis and treatment are crucial, since this improves the prognosis and diminishes the chances of relapses (AU)

[Anti-NMDA receptor encephalitis: two paediatric cases]. / Encefalitis antirreceptor de NMDA: dos casos pediátricos.

INTRODUCTION: Encephalitis associated to anti-N-methyl D-aspartate (NMDA) receptor antibodies is an autoimmune neurological pathology that has been reported increasingly more frequently in the paediatric population in recent years. We report two cases from our own experience with similar clinical pictures. CASE REPORTS: Case 1: a 5-year-old girl who began with clinical signs and symptoms of convulsions and altered consciousness, associated to movement disorders and regression of previously acquired abilities that developed into autism. Case 2: a 13-year-old girl who presented left-side hemiparesis, abnormal movements, conduct disorder and dysautonomia. In both cases positive anti-NMDA receptor antibodies were obtained in cerebrospinal fluid and they were diagnosed with anti-NMDA receptor encephalitis. In the first case, treatment was established with intravenous perfusion of corticoids and immunoglobulins, and rituximab also had to be associated. In the second case, treatment consisted in corticoids and immunoglobulins. Progress was favourable in both cases, with a slight language disorder as a sequela in the first case and a relapse in the second case, with full resolution. CONCLUSIONS: Anti-NMDA receptor encephalitis is a treatable disorder and early diagnosis and treatment are crucial, since this improves the prognosis and diminishes the chances of relapses.

TITLE: Encefalitis antirreceptor de NMDA: dos casos pediatricos.Introduccion. La encefalitis asociada a anticuerpos antirreceptores de N-metil-D-aspartato (NMDA) es una patologia neurologica autoinmune documentada en la poblacion pediatrica de manera creciente en los ultimos años. Se presentan dos casos de nuestra experiencia con clinica similar. Casos clinicos. Caso 1: niña de 5 años que inicia un cuadro de convulsiones y alteracion de conciencia, asociando trastornos del movimiento y regresion de habilidades previamente adquiridas que evoluciona a autismo. Caso 2: niña de 13 años que presenta hemiparesia izquierda, movimientos anomalos, trastorno de conducta y disautonomia. En ambos casos se obtienen anticuerpos antirreceptores de NMDA positivos en el liquido cefalorraquideo y se diagnostican de encefalitis antirreceptor de NMDA. En el primer caso se inicia el tratamiento con perfusion intravenosa de corticoides e inmunoglobulinas y es necesario asociar rituximab. En el segundo, corticoides e inmunoglobulinas. La evolucion fue favorable en ambas pacientes, con una leve alteracion del lenguaje como secuela en el primer caso y una recaida en el segundo caso, con resolucion completa. Conclusion. La encefalitis antirreceptor de NMDA es un trastorno tratable y es importante el diagnostico y tratamiento precoz, ya que mejora el pronostico y disminuye las recaidas.

Accidentes cerebrovasculares prenatales diagnosticados en la etapa de lactante: serie de 10 pacientes / Prenatal cerebrovascular accidents diagnosed in the early infant stage: a series of 10 patients

Introducción. El accidente cerebrovascular (ACV) fetal o prenatal se define como un suceso isquémico, trombótico o hemorrágico arterial o venoso que acontece entre las 14 semanas de gestación y el inicio del parto. Pacientes y métodos. Estudio retrospectivo de una serie de 10 pacientes afectos de un ictus, presumiblemente fetal, desapercibido durante el embarazo y diagnosticado en la etapa de lactante; se destacan cuáles han sido los síntomas y la edad en que se han identificado. Resultados. De los 10 pacientes estudiados, ninguno presentaba antecedentes maternos relevantes, pero se detectaron cuatro amenazas de parto pretérmino que se resolvieron con las medidas habituales y sin hallazgos de alteración fetal posterior. Entre el segundo y tercer trimestre de vida es cuando se han realizado los estudios que han llevado al diagnóstico, y se ha indicado por la familia una menor movilidad de un hemicuerpo respecto al contralateral como motivo de consulta. Dos pacientes presentaban una trombofilia. Con una media de seguimiento de seis años, todos asocian una parálisis cerebral infantil, la tercera parte una epilepsia y el 75% tiene dificultades de aprendizaje o discapacidad intelectual. Conclusión. Cuando los ACV no se detectan prenatalmente, es importante que en la atención primaria se busquen y detecten los signos de alarma del desarrollo psicomotor del lactante de forma precoz para iniciar su estudio y procurar una rehabilitación lo más pronto posible (AU)

Introduction. A foetal or prenatal cerebrovascular accident (CVA) is defined as an ischaemic, thrombotic or arterial or venous haemorrhagic event that occurs between the 14th week of gestation and the onset of labour. Patients and methods. We report a retrospective study of a series of 10 patients suffering from a, presumably foetal, stroke that went unnoticed during the pregnancy and was diagnosed in the early infant stage. The symptoms and the age at which they were identified are highlighted. Results. None of the 10 patients studied presented any relevant events in the mothers’ medical history, but there were four threats of a preterm birth that were solved using the usual means and without the occurrence of any alterations that later affected the foetus. The studies that led to the diagnosis were carried out between the sixth and ninth months of life, and the reason for visiting was reported by the family as being a lower degree of mobility on one side of the body with respect to the other. Two patients presented thrombophilia. With a mean follow-up time of six years, all the patients have an associated infantile cerebral palsy, a third of them have epilepsy and 75% have learning difficulties or intellectual disability. Conclusions. When CVA are not detected in the prenatal period, it is important in primary care to look for and detect the warning signs of the psychomotor development of the infant at an early stage in order to begin a study of the case and to undertake rehabilitation as early as possible (AU)

[Prenatal cerebrovascular accidents diagnosed in the early infant stage: a series of 10 patients]. / Accidentes cerebrovasculares prenatales diagnosticados en la etapa de lactante: serie de 10 pacientes.

INTRODUCTION. A foetal or prenatal cerebrovascular accident (CVA) is defined as an ischaemic, thrombotic or arterial or venous haemorrhagic event that occurs between the 14th week of gestation and the onset of labour. PATIENTS AND METHODS. We report a retrospective study of a series of 10 patients suffering from a, presumably foetal, stroke that went unnoticed during the pregnancy and was diagnosed in the early infant stage. The symptoms and the age at which they were identified are highlighted. RESULTS. None of the 10 patients studied presented any relevant events in the mothers' medical history, but there were four threats of a preterm birth that were solved using the usual means and without the occurrence of any alterations that later affected the foetus. The studies that led to the diagnosis were carried out between the sixth and ninth months of life, and the reason for visiting was reported by the family as being a lower degree of mobility on one side of the body with respect to the other. Two patients presented thrombophilia. With a mean follow-up time of six years, all the patients have an associated infantile cerebral palsy, a third of them have epilepsy and 75% have learning difficulties or intellectual disability. CONCLUSIONS. When CVA are not detected in the prenatal period, it is important in primary care to look for and detect the warning signs of the psychomotor development of the infant at an early stage in order to begin a study of the case and to undertake rehabilitation as early as possible.

TITLE: Accidentes cerebrovasculares prenatales diagnosticados en la etapa de lactante: serie de 10 pacientes.Introduccion. El accidente cerebrovascular (ACV) fetal o prenatal se define como un suceso isquemico, trombotico o hemorragico arterial o venoso que acontece entre las 14 semanas de gestacion y el inicio del parto. Pacientes y metodos. Estudio retrospectivo de una serie de 10 pacientes afectos de un ictus, presumiblemente fetal, desapercibido durante el embarazo y diagnosticado en la etapa de lactante; se destacan cuales han sido los sintomas y la edad en que se han identificado. Resultados. De los 10 pacientes estudiados, ninguno presentaba antecedentes maternos relevantes, pero se detectaron cuatro amenazas de parto pretermino que se resolvieron con las medidas habituales y sin hallazgos de alteracion fetal posterior. Entre el segundo y tercer trimestre de vida es cuando se han realizado los estudios que han llevado al diagnostico, y se ha indicado por la familia una menor movilidad de un hemicuerpo respecto al contralateral como motivo de consulta. Dos pacientes presentaban una trombofilia. Con una media de seguimiento de seis años, todos asocian una paralisis cerebral infantil, la tercera parte una epilepsia y el 75% tiene dificultades de aprendizaje o discapacidad intelectual. Conclusion. Cuando los ACV no se detectan prenatalmente, es importante que en la atencion primaria se busquen y detecten los signos de alarma del desarrollo psicomotor del lactante de forma precoz para iniciar su estudio y procurar una rehabilitacion lo mas pronto posible.

Cerebelitis aguda fulminante: caso excepcional y de evolución fatal / Fulminant acute cerebellitis: an exceptional case with a fatal outcome

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