Genetic disorder with bilateral optic atrophy, mental
retardation, and ataxia.
Infantile Optic Atrophy-Ataxia Syndrome; Optic
Unknown; both sexes seem to be equally affected.
Families with several affected members have
been described. An autosomal recessive mode of inheritance was suggested,
but a significant genetic heterogeneity seems likely.
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
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
Seitelberger syndrome (infantile neuroaxonal dystrophy) was suggested.
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.
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
No adverse experiences with anesthesia
have been reported. Careful intraoperative positioning is needed,
but can be difficult (contractures).
Chronic antiseizure therapy may alter
the pharmacokinetic of other drugs with hepatic metabolism.
Behr syndrome shares many
features with the following conditions:
Seitelberger Syndrome: Probably an autosomal recessive transmitted
progressive degenerative encephalopathy with axonal swelling and spheroid
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
Horoupian DS, Zucker DK, Moshe S, et al: Behr syndrome: A clinicopathologic
Thomas PK, Workman JM, Thage O: ...