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T2-weighted axial MRI of a 14-month-old infant with Leigh disease and apnea, oculomotor palsies, and developmental regression. (Contributed by Dr. Richard Morse.)
Feb. 26, 2021
Neuromuscular syndromes of the paraspinal muscles comprise the dropped head syndrome and the bent spine syndrome (camptocormia). Although these phenotypes
Feb. 15, 2021
Herpes simplex encephalitis, a viral infection of the brain, presents acutely with frontal and temporal lobe symptoms, such as aphasia, personality changes, and hallucinations preceded or followed by headache, fever, impaired consciousness, and seizures. The virus is believed to spread to the brain along the trigeminal or olfactory pathways.
Sep. 04, 2021
Neuro-Ophthalmology & Neuro-Otology
Vogt-Koyanagi-Harada syndrome is primarily an ocular inflammatory disease, but the prodrome often includes signs and symptoms that bring the patient to a neurologist, including headache, meningeal signs, and CSF pleocytosis. Melanin pigment-containing cells are often involved, including the retinal pigment epithelium in the eye producing “sunset glow” fundus appearance and cutaneous melanocytes producing vitiligo and poliosis. The disease is encountered more frequently in persons of Asian, Latin, and Mediterranean descent than in other ethnic groups.
Jul. 25, 2020
Anti-GQ1b antibody syndrome represents a group of disorders that share a common serological profile. The classical triad of ophthalmoplegia, ataxia, and areflexia continues to be the commonest presentation in Miller Fisher syndrome. Bickerstaff brainstem encephalitis represents the other end of the spectrum where patients present not only with ataxia and ophthalmoplegia, but also features that suggest involvement of the CNS, such as altered levels of consciousness and brisk reflexes.
Nov. 30, 2020
Behavioral & Cognitive Disorders
Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disability, epilepsy, ataxia, and a unique behavioral phenotype. It has generally been felt to result from impaired expression of the maternal allele for the UBE3A gene, which encodes ubiquitin protein ligase E3A. Primary areas of clinical management include the following: seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety.
Apr. 05, 2021
Mar. 07, 2021
Stroke & Vascular Disorders
A carotid bruit is a vascular sound usually heard with a stethoscope over the carotid artery because of turbulent, non-laminar blood flow through a stenotic area. Atherosclerosis causing a stenosis of more than 50% of the carotid diameter is the most common cause of this bruit. Asymptomatic carotid stenosis increases the stroke risk to a slight degree, but the risk is much lower compared to symptomatic patients.
Feb. 10, 2020