RESUMEN
PURPOSE: To determine whether diffusion abnormalities can be observed in nonsymptomatic family members with a known causative Cu/Zn superoxide dismutase mutation (asymptomatic familial amyotrophic lateral sclerosis; AFALS(+SOD1)) in a family with autosomal dominant familial amyotrophic lateral sclerosis (ALS) using diffusion tensor imaging (DTI). MATERIALS AND METHODS: A total of eight AFALS(+SOD1) subjects (aged 17-43 years) were age-matched with 13 healthy controls (aged 19-45 years) without SOD1 mutations. DTI was carried out on a 1.5T scanner. The diffusion index maps derived were then normalized spatially for voxel-based analysis. region of interest (ROI)-based analysis was also carried out. RESULTS: Our voxel-based and ROI-based analysis showed that AFALS(+SOD1) subjects have decreased fractional anisotropy (FA) (0.5401 vs. 0.5168, P < 0.05) and increased tensor trace (TT) (2.5854 x 10(-3) mm(2)/second vs. 2.6226 x 10(-3) mm(2)/second, P < 0.04) at the posterior limb of the internal capsule compared to the control subjects. Increased radial diffusivity (E((2,3)/2)) was detected on both sides (right = 0.5710 x 10(-3) mm(2)/second vs. 0.5943 x 10(-3) mm(2)/second, P < 0.05; left = 0.5666 x 10(-3) mm(2)/second vs. 0.5872 x 10(-3) mm(2)/second, P < 0.05). No significant change in axial diffusivity (E(1)) was detected. CONCLUSION: Abnormal diffusivity was found at the posterior limb of the internal capsule in AFALS(+SOD1) subjects, hitherto unreported. Our results suggest that DTI may detect diffusion abnormalities in AFALS(+SOD1) subjects before symptoms develop.
Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/patología , Imagen de Difusión por Resonancia Magnética/métodos , Mutación , Superóxido Dismutasa/genética , Adolescente , Adulto , Esclerosis Amiotrófica Lateral/enzimología , Anisotropía , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Estadísticas no Paramétricas , Superóxido Dismutasa-1RESUMEN
Intussusception is a well-known condition that a portion of gut invaginates into the lumen of the immediate adjacent intestine. Intussusception in adult is rare, about 5% of all intussusceptions (Stubenbord and Thorbjarnarson in Ann Surg 172(2):306-310, 1970). We present a rare case of gastric gastrointestinal stromal tumors complicated with gastroduodenal intussusception. The preoperative diagnosis was made on multidetector CT and confirmed at operation.
