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Cebocephaly, ocular hypotelorism, and polysyndactyly of the III, IV, and V digits of the hand are typical characteristics of infants with holoprosencephaly. (Contributed by Dr. Joseph Siebert.)
Childhood Degenerative & Metabolic Disorders
Jan. 10, 2020
Botulism typically presents with prominent cranial nerve palsies, followed by symmetric descending flaccid paralysis, limb weakness, and weakness of respiratory muscles. Botulinum toxin acts at the neuromuscular junction and is one of the most potent neurotoxins in the world, being lethal in small doses. Administration of botulinum antitoxin is recommended as soon as the diagnosis is suspected.
Jan. 26, 2021
Hypertensive encephalopathy is a syndrome in which altered mental status, headache, vision changes, and/or seizures accompany elevated blood pressure. Failure of cerebral autoregulation from a sudden elevation of blood pressure results in endothelial injury and vasogenic edema. Early recognition and correction of hypertension often results in reversal of the encephalopathy; without prompt treatment, permanently damaging ischemia or hemorrhage may result.
Nov. 05, 2021
Carnitine-acylcarnitine translocase deficiency is a rare inborn error of energy metabolism involving the carnitine cycle. This enzyme deficiency is considered
Feb. 20, 2021
Charcot-Marie-Tooth disease type 1A is characterized by childhood onset and progressive peripheral nerve manifestations with distal dominant weakness, sensory loss, and limb deformities. Demyelinating changes are also characteristic. Mutations in the peripheral myelin protein 22 gene are the cause.
Jul. 19, 2021
Neuropharmacology & Neurotherapeutics
Gene therapy can include the transfer of genetic material to target cells in a patient for therapeutic purposes, modification or suppression of gene function, or transplantation of genetically modified cells for in vivo production of therapeutic substances. Both viral and nonviral vectors have been used for this purpose. Neurogenetic and neurodegenerative disorders, cerebral vascular disease, CNS trauma, and glioblastoma are amenable to gene therapy.
Aug. 24, 2021
Sudden infant death syndrome (SIDS) is the sudden, unexpected death of an infant (<1 year old) that is unexplained by careful review of history, autopsy,
Feb. 14, 2021
Headache & Pain
Migraine has a prevalence of approximately 12% worldwide and contributes to around 40% to 50% of the overall headache burden. Tension-type headache is the most prevalent primary headache, while chronic daily headache is the most common headache disorder. Headache is one of the most common public health concerns worldwide, and the most common reason for neurologic consultation.
Jan. 17, 2021