RESUMO
El síndrome de opsoclonus mioclonus es un trastorno poco frecuente en pediatría. El diagnóstico es clínico y se caracteriza por la presencia de, al menos, tres de los siguientes: opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En más del 50 % de los casos, se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y su tratamiento es a base de inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Entre el 70 % y el 80 % de los casos pueden tener secuelas neurológicas, dependiendo de la causa, la gravedad inicial de los síntomas y la velocidad de instauración del tratamiento.Se presenta el caso de un varón de 2 años con diagnóstico de síndrome de opsoclonus mioclonus secundario a un neuroblastoma suprarrenal izquierdo, en el que se realizó la resección tumoral y el tratamiento con corticoides, inmunoglobulina y rituximab.
Opsoclonus-myoclonus syndrome is a rare disorder among pediatric patients.The diagnosis is clinical and is characterized by the presence of at least three of the following: opsoclonus, myoclonus, ataxia, irritability and sleep disorders. In over 50 % of cases it is associated with the presence of Neuroblastoma. It is a disorder of immune origin and its treatment is based on immunosuppressants, immunomodulators and tumor resection in cases secondary to Neuroblastoma. Up to 70 % to 80 % of cases may present neurological sequelae, depending on the cause, the initial severity of symptoms and the delay of proper treatment. We present the case of a 2-year-old male with diagnosis of opsoclonus-myoclonus syndrome secondary to a left adrenal Neuroblastoma. Tumor resection and treatment with corticosteroids, immunoglobulin and rituximab were performed.
Assuntos
Humanos , Masculino , Pré-Escolar , Síndrome de Opsoclonia-Mioclonia , Neuroblastoma/cirurgia , Neuroblastoma/tratamento farmacológico , Pediatria , Neoplasias AbdominaisRESUMO
Opsoclonus-myoclonus syndrome is a rare disorder among pediatric patients. The diagnosis is clinical and is characterized by the presence of at least three of the following: opsoclonus, myoclonus, ataxia, irritability and sleep disorders. In over 50 % of cases it is associated with the presence of Neuroblastoma. It is a disorder of immune origin and its treatment is based on immunosuppressants, immunomodulators and tumor resection in cases secondary to Neuroblastoma. Up to 70 % to 80 % of cases may present neurological sequelae, depending on the cause, the initial severity of symptoms and the delay of proper treatment. We present the case of a 2-year-old male with diagnosis of opsoclonus-myoclonus syndrome secondary to a left adrenal Neuroblastoma. Tumor resection and treatment with corticosteroids, immunoglobulin and rituximab were performed.
El síndrome de opsoclonus mioclonus es un trastorno poco frecuente en pediatría. El diagnóstico es clínico y se caracteriza por la presencia de, al menos, tres de los siguientes: opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En más del 50 % de los casos, se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y su tratamiento es a base de inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Entre el 70 % y el 80 % de los casos pueden tener secuelas neurológicas, dependiendo de la causa, la gravedad inicial de los síntomas y la velocidad de instauración del tratamiento. Se presenta el caso de un varón de 2 años con diagnóstico de síndrome de opsoclonus mioclonus secundario a un neuroblastoma suprarrenal izquierdo, en el que se realizó la resección tumoral y el tratamiento con corticoides, inmunoglobulina y rituximab.
Assuntos
Neoplasias Abdominais/complicações , Neoplasias das Glândulas Suprarrenais/complicações , Neuroblastoma/complicações , Síndrome de Opsoclonia-Mioclonia/etiologia , Neoplasias Abdominais/diagnóstico , Neoplasias Abdominais/terapia , Corticosteroides/administração & dosagem , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Pré-Escolar , Terapia Combinada , Humanos , Imunoglobulinas/administração & dosagem , Masculino , Neuroblastoma/diagnóstico , Neuroblastoma/terapia , Síndrome de Opsoclonia-Mioclonia/diagnóstico , Rituximab/administração & dosagemRESUMO
Epilepsy with myoclonic-atonic seizures is characterized by myoclonic-atonic, absence, tonic-clonic, and eventually tonic seizures, appearing in previously normal children at ages 18-60 months. We analyzed the electroclinical features, treatment, and outcome of 69 patients with myoclonic-atonic seizures; these patients were followed between 1990 and 2012 at the Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina. No structural or metabolic etiology was identified. Based on the electroclinical features and evolution, two groups could be distinguished. The first group of 39 patients with myoclonic and myoclonic-atonic seizures with or without generalized tonic-clonic seizures and absences associated with generalized spike- and polyspike-and-wave paroxysms had excellent prognoses. The second group of 30 patients had myoclonic jerks and myoclonic-atonic seizures associated with other seizure types including tonic seizures; some had myoclonic status epilepticus and cognitive deterioration. The interictal EEG showed frequent generalized spike- and polyspike-and-wave paroxysms. In 16 patients, the seizures remitted within 3.6 years. The two groups were distinguished in retrospect, when enough time had elapsed to evaluate cognitive deterioration and different seizure types. In conclusion, epilepsy with myoclonic atonic seizures is an epileptic syndrome with a broad clinical spectrum and variable prognosis.