Behr syndrome variant with tremor treated by VIM stimulation.

Area of Science:

• Neurology
• Genetics
• Neurosurgery

Background:

• Behr syndrome, described in 1909, is characterized by heredofamilial optic atrophy, visual disturbances, nystagmus, and pyramidal tract signs.
• Tremor has not been previously reported as a feature of Behr syndrome.
• Complicated inherited cerebellar ataxia with accompanying visual loss and tremor (CICALVT) represents a rare neurological disorder.

Observation:

• A 51-year-old man presented with advanced visual deterioration since childhood and progressive spastic paraparesis for 15 years.
• The patient also exhibited increasing tremor in both hands for 5 years, suggesting a Behr syndrome variant.
• This case highlights a rare presentation of CICALVT with features overlapping Behr syndrome.

Findings:

• The patient's tremor was successfully treated with deep brain stimulation (DBS) targeting the ventral intermediate thalamic nucleus (VIM).
• This demonstrates the efficacy of VIM DBS in managing tremor associated with complex inherited movement disorders.
• The successful intervention suggests VIM DBS as a viable treatment option for tremor in Behr syndrome variants.

Implications:

• Deep brain stimulation of the ventral intermediate nucleus is a potentially effective treatment for tremor in patients with complex movement disorders.
• This case expands the known clinical spectrum of Behr syndrome and related disorders.
• Further research into VIM DBS for heredofamilial optic atrophy and cerebellar ataxia syndromes is warranted.