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JAMA Neurology Clinical Challenge
December 2018

An Unusual Fundus Finding in a Teenage Girl

Author Affiliations
  • 1Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil
JAMA Neurol. 2018;75(12):1566-1567. doi:10.1001/jamaneurol.2018.3108

A 16-year-old girl presented to our ataxia unit with a report of a peculiar finding in fundoscopy. Her parents were nonconsanguineous, and her family history was unremarkable. She had unsteadiness and frequent falls at gait initiation since age 16 months. There was a progressive worsening of her gait difficulties, and she complained of loss of balance.

On examination, she had saccadic pursuit, subtle appendicular ataxia, and a spastic gait with a wide base. She could not stand or walk with her feet in the tandem position. Her muscle strength was normal. Achilles tendon reflexes and plantar responses were absent, and vibration sense was decreased in her toes and ankles.

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