Alexander Disease
General: Rare degenerative neurolog 414g68e ic disorder characterized by diffuse demyelination in the presence of Rosenthal fibers; cases may resemble multiple sclerosis; neuroradiologic findings include increased cerebellar white matter hyperintensity and diffuse periventricular signal hyperintensities.
Ocular: Impaired smooth pursuit; gaze-evoked horizontal nystagmus; slowed saccades; ocular myoclonus.
Clinical: In infants, hydrocephalus, spasticity, and seizures; in juveniles and adults, bulbar palsy and hyperreflexia, intermittent neurologic dysfunction.
Reichard EAP, Ball WS, Bove KE. Alexander disease: a case report and review of the literature. Pediatr Pathol Lab Med 1996; 16:327-343.
Russo LS, Aron
A,
Ocular Dominance [...] |
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et Disease (Osteitis Deformans; Congenital Hyperphosphatemia; Hyperostosis Corticalis Deformans; Pozzi Syndrome; Chronic Congenital Idiopathic Hype [...] |
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