Скачать с ютуб Imaging of Leukodystrophies (part 1): Alexander disease, Canavan disease and Van Der Knaap Disease в хорошем качестве

Imaging of Leukodystrophies (part 1): Alexander disease, Canavan disease and Van Der Knaap Disease

Inborn errors of metabolism (IEM) are a hetergenous group of disorders caused genetic defects in one or more metabolic pathways that can cause considerable morbidity and death. Up to now over 2500 IEMs have been described. While individually rare, the estimated global prevalence of IEMs comprises a substantial number of neonatal and infantile disorders affecting the CNS. These are difficult disorders to diagnose, because clinical manifestations are often nonspecific and radiological findings are often overlapping. This makes them a difficult topic for both clinicians and radiologists. In this presentation imaging findings are shown of three IEMs in which patients classically present with an increased head circumference (macrocephaly) during the first year of life. When confronted with a leukodystrophy on imaging in a child presenting with macrocephaly, differential diagnosis is not that extensive and includes Alexander disease, Canavan disease and Van Der Knaap disease. Although all three of these disorders are characterzied by diffuse WM abnormalities on imaging, there are sufficient radiological differences to suggest the correct diagnosis. 0:00 - Introduction 01:44 - Case presentation 10:24 - Alexander disease 17:30 - Canavan disease 24:41 - Megalencephalic leukoencephalopathy with subcortical cysts (Van Der Knaap disease) 32:35 - Key Messages This video is brought to you by the neuroradiologist:   / theneuroradguy     / the_neurora.  . https://theneuroradiologist.org/ #radiology #neuroradiology #neurology #medicalstudent #neuroradiologist #theneuroradiologist #MRI #medical #pediatrics #leukodystrophy #genetics #alexander #canavan #pediatricneurology