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

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.