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Noncontrast enhanced CT scan demonstrating low-density area in the posterior corpus callosum, suggestive of a lipoma. (Contributed by Dr. Robert Grant.)
May. 26, 2021
Kearns-Sayre syndrome is a multisystemic disorder defined by the triad of chronic progressive external ophthalmoplegia, retinitis pigmentosa, and onset before 20 years of age. It is usually a result of single, large-scale deletion mutations of mitochondrial DNA. Progressive cardiac conduction block is common and can be fatal; therefore, timely placement of a cardiac pacemaker can extend lifespan.
Nov. 12, 2020
Abnormal thyroid function can cause a myopathy. Thyroid disorders can lead to neuromuscular manifestations, including thyrotoxic myopathy, hypothyroid myopathy, thyrotoxic periodic paralysis, and thyroid-associated ophthalmopathy. The clinical features of hypothyroid myopathy are proximal weakness, fatigue, slowed contraction and relaxation, stiffness, myalgia, and myoedema. Dyspnea may be the presenting symptom in hyperthyroid myopathy, in contrast to most other endocrine myopathies.
Oct. 21, 2020
Childhood Degenerative & Metabolic Disorders
Gaucher disease is a storage disorder caused by mutations in the GBA1 gene. Neuronopathic Gaucher disease has a very wide clinical spectrum--from congenital and early infantile Gaucher disease type 2 to very mild with horizontal supranuclear gaze palsy as the only neurologic abnormality and normal or even superior intelligence. GBA1 mutations are a risk factor for developing neurodegenerative diseases.
Dec. 28, 2019
Anti-NMDA receptor encephalitis is an autoimmune disorder mediated by specific IgG autoantibodies to the GluN1 subunit of the NMDA receptor. Most patients present with neuropsychiatric symptoms that progress to include seizures, movement disorders, autonomic dysfunction, and decreased level of consciousness. The underlying mechanism of the disorder is a reversible antibody-mediated reduction of synaptic NMDA receptors.
May. 12, 2021
Susac syndrome is typically a triad of encephalopathy, retinopathy, and hearing loss, but may have an atypical presentation. Most patients do not have the clinical triad at the onset of symptoms, but rather recurrences of one or more of the components of the triad. The syndrome is self-limiting and may go on for years, with fluctuations in its course.
Aug. 01, 2021
Epilepsy & Seizures
Generalized onset tonic-clonic seizures are the most dramatic, severe, and common seizures of syndromes of idiopathic generalized epilepsy. They manifest with violent generalized convulsions, loss of consciousness, and marked autonomic disturbances. They are usually spontaneous, but they may also be provoked by external, mainly photic, stimuli. They are often associated with severe complications that may also be fatal.
Jun. 30, 2021
Neuropharmacology & Neurotherapeutics
Aug. 24, 2021