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Behr syndrome (optic atrophy ataxia syndrome)   134


Behr Syndrome (Optic Atrophy Ataxia Syndrome) 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i    134

General: Infantile form of heredofamilial optic atrophy and hereditary ataxia; autosomal recessive; rare; temporary progression that after some years leads to a static condition; both sexes equally affected, although transmission of pure hereditary optic atrophy shows marked predominance in males; in most cases, the abnormalities do not progress after childhood.

Ocular: Nystagmus; central scotoma; severe progressive temporal atrophy of the optic nerve; bilateral retrobulbar neuritis; horizontal nystagmus.



Clinical: Pyramidal tract signs (increased tendon reflexes and positive Babinski sign); ataxia and disturbance of coordination; mental deficiency; vesical sphincter muscle weakness; muscular hypertonia; clubfoot; progressive spastic paraplegia; dysarthria; head nodding.

Behr C. Die Komplizierte, Hereditarfamiliare Optikusatrophie des Kindesalters; ein Fisher Nicht Beschriebener Symptomenkomplex. Klin Monatsbl Augenheilkd 1909; 47: 136.

Landrigan PJ, et al. Behr's syndrome: familial optic atrophy, spastic diplegia and ataxia. Dev Med Child Neurol 1973; 15:41-47.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Sheffer RN, et al. Behr's syndrome and 3-methylglutaconic aciduna. Am J Ophthalmol 1992; 114:494-497.

Miller NR, ed. Walsh and Hoyt's Clinical Neuro-Ophthalmology, vol. 1., 4th ed. Baltimore: Williams & Wilkins, 1982.




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