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Genetic disorder with bilateral optic atrophy, mental retardation, and ataxia.

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Infantile Optic Atrophy-Ataxia Syndrome; Optic Atrophia-Ataxia Syndrome.

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Unknown; both sexes seem to be equally affected.

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Families with several affected members have been described. An autosomal recessive mode of inheritance was suggested, but a significant genetic heterogeneity seems likely.

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Unknown. Increased urine 3-methylglutaconate and 3-methylglutate levels have been reported in some individuals with a Behr-like syndrome. Histopathologically, central optic nerve atrophy and disarray of the normal structure of the lateral geniculate nuclei have been described.

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Based on the clinical features and family history. Autopsy of one patient showed central atrophy of the optic nerves and a total disarray of the normal laminar pattern of the lateral geniculate nucleus with dropout of neurons and gliosis. Numerous axonal spheroids were noted in the neuropil. Similar spheroids with cell loss and gliosis were also found in the thalamus and the pallida. A relationship of Behr syndrome with Seitelberger syndrome (infantile neuroaxonal dystrophy) was suggested.

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Characterized by early onset of bilateral optic nerve atrophy resulting in partial visual field defects, and neurologic symptoms including ataxia and spastic gait, mental retardation, nystagmus, epilepsy, positive Babinski sign, and urinary incontinence. The disease is most often progressive over an extended time, followed by a period of relative stability. Lower limb contractures develop in up to 70% of patients. These patients may present for lengthening of the Achilles tendon or release of the adductors.

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The severity of the clinical symptoms should be defined prior to anesthesia. In particular, a history of current medical treatment and efficacy for seizures should be obtained. Anxiolysis may be helpful in the management of patients with visual impairment and mental retardation. Pupillary reaction to light may be altered and should be documented prior to anesthesia.

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No adverse experiences with anesthesia have been reported. Careful intraoperative positioning is needed, but can be difficult (contractures).

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Chronic antiseizure therapy may alter the pharmacokinetic of other drugs with hepatic metabolism.

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Behr syndrome shares many features with the following conditions:

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Spinocerebellar Ataxia Syndromes: Such as: Boucher-Neuhäuser Syndrome; Friedreich Ataxia (FRDA); Infantile-Onset Spinocerebellar Ataxia (IOSCA); Machado-Joseph Disease; Roussy-Levy Syndrome. Some authors regard Behr syndrome as a form of a spinocerebellar ataxia syndrome.

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Seitelberger Syndrome: Probably an autosomal recessive transmitted progressive degenerative encephalopathy with axonal swelling and spheroid axonal degeneration.

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Hallervorden-Spatz Disease: Autosomal recessive inherited neurodegenerative syndrome that primarily affects the basal ganglia.

Copeliovitch L, Katz K, Arbel N, et al: Musculoskeletal deformities in Behr syndrome. J Pediatr Orthop 21:512, 2001.  [PubMed: 11433166]
Horoupian DS, Zucker DK, Moshe S, et al: Behr syndrome: A clinicopathologic report. Neurology 29:323, 1979.  [PubMed: 571977]
Thomas PK, Workman JM, Thage O: ...

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