Behr syndrome (optic atrophy ataxia syndrome)   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.