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Some of the gross features of this meningioma, such as necrosis and invasion of the brain parenchyma, suggest malignancy. (Contributed by Drs. Julio Garcia and Eduardo Eyzaguirre.)
Aug. 18, 2020
Aug. 24, 2020
Childhood Degenerative & Metabolic Disorders
Mar. 10, 2021
May. 30, 2021
Wilson disease is caused by mutations in ATP7B that result in abnormal copper metabolism, and subsequent excess free copper is toxic. The main clinical categories of neurologic Wilson disease have been traditionally divided variably into tremor, dysarthria, pseudosclerosis (tremor +/- dysarthria), parkinsonism, dystonia, or chorea. The aim of treatment is to reduce the amount of toxic free copper.
Jun. 09, 2021
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited urea cycle disorder and the only one to be transmitted as an X-linked trait.
Aug. 17, 2021
Neurocutaneous syndromes are a diverse group of congenital developmental diseases that affect the nervous system and the skin and have systemic lesions in multiple organ systems, including bone, endocrine glands, eye, kidney, heart, and lung. They can produce benign tumors as well as malignancies. Genetic mutations are identified in most of these syndromes.
Apr. 08, 2020
Neurofibromatosis 2 (NF2) is a tumor predisposition syndrome most commonly associated with the development of multiple schwannomas (classically bilateral
Mar. 07, 2018