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This young woman with Wilson disease exhibits a rest and postural slow tremor (myorhythmia) of her left hand. (Contributed by Dr. Joseph Jankovic.)
Childhood Degenerative & Metabolic Disorders
Sep. 09, 2021
Oct. 13, 2021
Mar. 31, 2020
Chordomas are histologically non-anaplastic tumors that are locally invasive, which usually present at the skull base, but can arise anywhere along the spinal axis and pelvis. MRI typically shows a locally invasive, enhancing mass within the bones of the clivus and skull base, sacrum, or vertebral bodies. They are thought to derive from notochordal remnants. Gross total resection is the initial approach to treatment and is correlated with improved overall survival; a small percentage of cases can progress to systemic metastases.
Nov. 23, 2021
Neurologic complications from systemic anticancer therapies impact quality of life and remain an important source of dose-limiting toxicity. These complications may result from the direct toxic effects of the drug on the nervous system or indirectly from metabolic derangements, inflammatory responses, or cerebrovascular disorders induced by the drugs. The neurotoxicities of chemotherapy are widely known, but targeted agents and immunotherapies are also associated with neurologic complications.
Dec. 19, 2020
Folate deficiency is characterized by megaloblastic anemia and less frequently by neurologic problems, including forgetfulness, irritability, neuropathy or myelopathy. Maternal folate deficiency early in pregnancy is also a major risk factor for fetal neural tube defects. Deficiency may arise as the result of dietary deficiency, alcoholism, or generalized malabsorption, such as in sprue or celiac disease.
Sep. 30, 2021
Cerebellar hypoplasia is a feature of several neurodevelopmental disorders in which the cerebellum is small in size, but normal in shape. Disorganized development of the cerebellum causes cerebellar dysplasia in which the shape and “texture” of the cerebellum appear abnormal due to the presence of abnormal folia pattern or gray matter nodular heterotopia. Macrocerebellum is a rare malformation that may occur as an isolated finding or as part of a few syndromes.
Sep. 08, 2021
Neuropharmacology & Neurotherapeutics
Nusinersen is a splice-modulating antisense oligonucleotide indicated for the treatment of spinal muscular atrophy in pediatric and adult patients. It is effective in alleviating the condition, but is not a cure, and continuous treatment is required. It remains to be determined if the high degree of efficacy observed in infants and small children in clinical trials can also be achieved in adults.
Mar. 21, 2021