RESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Niño , Dolor en el Pecho/etiología , Paraplejía/etiología , Infarto/complicaciones , Médula Espinal/irrigación sanguínea , Enfermedades de la Médula Espinal/complicaciones , Paraplejía/diagnóstico por imagen , Enfermedades de la Médula Espinal/diagnóstico por imagen , Médula Espinal/diagnóstico por imagen , Espectroscopía de Resonancia MagnéticaRESUMEN
No disponible
Asunto(s)
Humanos , Masculino , Niño , Genes de Neurofibromatosis 1 , Neurofibromatosis 1/genética , Discapacidad Intelectual/diagnóstico , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/epidemiología , Cerebro/diagnóstico por imagen , Cerebro/patología , Cromosomas Humanos Par 17/genéticaRESUMEN
1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 1 , Cuerpo Calloso/patología , Microcefalia/genética , Convulsiones/genética , Niño , Humanos , MasculinoRESUMEN
Anti-N-methyl D-aspartate receptor (NMDAR) encephalitis is a devastating disease, that despite being increasingly diagnosed, there are no consensus guidelines for the optimal management. A previously healthy 3-year-old-boy brought to the emergency department due to seizures. Neurological examination was normal, and electroencephalogram (EEG) suggested focal epilepsy. Anticonvulsive medication was initiated. He progressively lost age-appropriate language skills, presented behavioural changes and psychiatric symptoms. Neurological examination at that time revealed symmetric gross motor weakness of the lower limbs. Brain and spinal cord MRI and cerebrospinal fluid were normal. Repeated EEG showed global lentification. Steroid therapy was initiated for the suspicion of autoimmune encephalitis, later confirmed as NMDAR encephalitis. He became clinically improved after 10 days of treatment but only returned to his baseline after 3 months of disease onset. The authors emphasised the variable course of the disease and possible late response to treatment.
Asunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato/tratamiento farmacológico , Levetiracetam/uso terapéutico , Metilprednisolona/uso terapéutico , Anticonvulsivantes/uso terapéutico , Preescolar , Progresión de la Enfermedad , Glucocorticoides/uso terapéutico , Humanos , Masculino , ConvulsionesRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Lactante , Mielitis Transversa/diagnóstico , Mielitis Transversa/tratamiento farmacológico , Radiculopatía/etiología , Médula Espinal/diagnóstico por imagen , Mielitis Transversa/complicaciones , Albúminas/líquido cefalorraquídeo , Metilprednisolona/uso terapéutico , Ceftriaxona/uso terapéutico , Azitromicina/uso terapéutico , Cateterismo/métodos , Imagen por Resonancia Magnética , Médula Espinal/patologíaRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Niño , Trastornos Distónicos/genética , Mutación Puntual , Mutación Missense , Proteínas de Unión al ARN/genética , Brasil/epidemiología , Brasil/etnología , Consanguinidad , Exones/genética , Portugal/epidemiologíaRESUMEN
We present a case report of a meningoradiculopathy associated with human herpesvirus 7, with long-term motor neurologic sequelae. It is important to consider human herpesvirus 7 as a potential pathogen of severe neurologic disease and sequelae in immunocompetent children, especially in older patients presenting neurologic signs.
Asunto(s)
Enfermedades Virales del Sistema Nervioso Central , Herpesvirus Humano 7 , Infecciones por Roseolovirus , Niño , Femenino , HumanosRESUMEN
Hirayama disease, also known as monomelic amyotrophy or juvenile spinal muscular atrophy of the distal upper extremity features the impairment of the anterior horn cells of the distal cervical spinal cord secondary to dural sac anterior displacement during cervical flexion. We describe a case of a 17-year-old boy with a history of scoliosis, evaluated in the emergency department for decreased muscle strength and atrophy of the left upper limb with progressive worsening for about 6 months. We performed electrophysiological studies that showed severe neurogenic atrophy involving the C7-T1 left myotomes. Brain and spine MRI performed showed flattening of the lower cervical cord and dura mater anterior displacement during cervical flexion. These findings were consistent with the diagnosis of Hirayama disease.