RESUMEN
A 4-year-old female with choroid plexus carcinoma developed progressive disturbance of consciousness 2 years after postoperative treatment with radiotherapy, chemotherapy, and focal methotrexate injection into a residual tumor cyst. Magnetic resonance imaging revealed white matter lesions localized around the expanding large cyst. A malignant recurrence of choroid plexus carcinoma with a propensity of cerebrospinal fluid overproduction was suspected. However, daily drainage of cerebrospinal fluid from the cyst and treatment with glycerol and dexamethasone achieved improvement. Diffuse hypoperfusion over the lesions on single-photon emission computed tomography denied the possibility of residual tumor aggravation and together with subsequent atrophic changes confirmed that the lesions reflect localized leukoencephalopathy, possibly associated with methotrexate forced into the parenchyma as a result of the expanding intracystic high pressure.
Asunto(s)
Antimetabolitos Antineoplásicos/administración & dosificación , Neoplasias del Plexo Coroideo/tratamiento farmacológico , Neoplasias del Plexo Coroideo/patología , Quistes/etiología , Quistes/patología , Metotrexato/administración & dosificación , Quistes/líquido cefalorraquídeo , Humanos , Lactante , Inyecciones Intralesiones , Presión Intracraneal , Imagen por Resonancia Magnética , Masculino , Vaina de Mielina/patologíaRESUMEN
Early-onset (infantile) Alexander disease is associated with mutations in the glial fibrillary acidic protein (GFAP) gene and two hot spots correlate to the severe phenotype. No molecular mechanisms have been elucidated in late-onset (juvenile) Alexander disease. The authors report a novel GFAP mutation in a patient with juvenile Alexander disease. The authors discuss similar molecular mechanisms in another intermediate filament disease and propose a possible molecular pathogenesis in juvenile Alexander disease.
Asunto(s)
Enfermedades del Sistema Nervioso Central/genética , Proteína Ácida Fibrilar de la Glía/genética , Mutación Puntual/genética , Adolescente , Edad de Inicio , Humanos , Masculino , LinajeRESUMEN
A 2-year-old girl demonstrating gait disturbance and dysuria was evaluated and showed two large remote tumors at the left lateral ventricle and lower spinal canal. Pathological analysis demonstrated both of the tumors to be choroid plexus carcinoma (CPC) with high MIB-1 labeling index. The enhanced mitotic propensity would have contributed to an early stage of drop metastasis from the primary site to the sacral sac and following accelerated formation of a longitudinal tumor, which had grown in the subarachnoid space conforming to the spinal canal and finally caused the presenting symptoms of spinal dysfunction. This report shows that CPC can develop exophytically in the subarachnoid space as well as in the ventricle simultaneously before appearance of clinical symptoms and confirms the importance of extensive neuroimaging in its evaluation.