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The markedly enlarged optic nerve reaches the globe. Tumor infiltration would be evident on funduscopic examination. (Contributed by Dr. Sherman Stein.)
Mar. 18, 2021
Childhood Degenerative & Metabolic Disorders
Primary carnitine transporter deficiency is an autosomal recessive inherited disorder caused by a defect of the plasmalemmal high-affinity carnitine
Jun. 14, 2021
Hemifacial spasm is a peripherally induced movement disorder characterized by repetitive clonic or more sustained spasms that synchronously affect muscles innervated by the facial nerve. Compression of the facial nerve at its junction with the brainstem, by vascular or other structures, appears to cause secondary hyperexcitability of the facial nucleus that seems to underlie most cases of hemifacial spasm.
Apr. 26, 2020
Jun. 09, 2021
Neuropharmacology & Neurotherapeutics
Oxcarbazepine is a homologue of the well-known antiepileptic drug carbamazepine. It was developed as an alternative to carbamazepine for patients who had adverse reactions to carbamazepine or diphenylhydantoin. Oxcarbazepine is indicated as a monotherapy for the treatment of partial epilepsy with or without secondary generalization.
Jul. 26, 2021
Neuro-Ophthalmology & Neuro-Otology
Oct. 21, 2020
The mucopolysaccharidoses are a group of storage disorders caused by the deficiency of enzymes catalyzing the degradation of glycosaminoglycans (mucopolysaccharides). Most patients with mucopolysaccharidosis I, II, and III develop variable degrees of intellectual disability, often with autistic features. Specific therapy consisting of enzyme replacement, systemic brain-penetrating or intrathecal, and gene therapy are being developed in a number of mucopolysaccharidoses.
Feb. 06, 2020
Sleep dysfunctions are associated with many neurologic disorders, and can help explain the development of cognitive changes in progressive chronic neurologic diseases. Sleep disorders include insomnia, excessive somnolence, sleep apnea and breathing disorders, narcolepsy, circadian dysrhythmia, parasomnias, and sleep-related movement disorders.
Jan. 25, 2021