Walsh & Hoyt: Complicated Hereditary Infantile Optic Atrophy (Behr's Syndrome)

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Identifier wh_ch11_p482_2
Title Walsh & Hoyt: Complicated Hereditary Infantile Optic Atrophy (Behr's Syndrome)
Subject Optic Nerve Diseases; Genetic Diseases, Inborn; Complicated Hereditary Infantile Optic Atrophy; Behr's Syndrome
Creator Nancy J. Newman, MD, Emory Eye Center
Description In 1909, Behr described a syndrome of heredofamilial optic atrophy beginning in early childhood and associated with variable pyramidal tract signs, ataxia, mental retardation, urinary incontinence, and pes cavus. The syndrome has been reported in both sexes and is believed to be autosomal-recessively inherited. Visual loss usually manifests before age 10 years, is moderate to severe, and is frequently accompanied by nystagmus. In most cases, the abnormalities do not progress after childhood. In one case of Behrs syndrome, MR imaging demonstrated diffuse symmetric white matter abnormalities. Horoupian et al. reported two sisters with Behrs syndrome, one of whom came to autopsy. Findings included moderate atrophy of the optic nerves and optic tracts with extensive degeneration of the lateral geniculate nuclei and with mild attenuation of the visual radiations, but with normal striate cortex. Two other patients with Behrs syndrome were also autopsied, but in one patient the findings were overshadowed by an intracerebral hemorrhage and in the other by necrotizing encephalopathy. Monaco et al. reported a patient with Behrs syndrome associated with epilepsy, as well as slow motor nerve conduction velocities, a low testosterone level, and an amino acid imbalance in both plasma and cerebrospinal fluid.
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2005
Type Text
Format application/pdf
Format Creation application/pdf
Relation is Part of Neuro-Ophthalmology Virtual Education Library (NOVEL): Walsh and Hoyt's Clinical Neuro-Ophthalmology, 6th Edition
Rights Management Copyright 2012. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution Spencer S. Eccles Health Sciences Library
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s6fv1vhm
Setname ehsl_novel_novel
Date Created 2012-06-05
Date Modified 2012-06-29
ID 186282
Reference URL https://collections.lib.utah.edu/ark:/87278/s6fv1vhm