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Kjellin syndrome: hereditary spastic paraplegia with pathognomonic macular appearance
  1. Victoria Anne Nowak1,
  2. Fion Bremner2,
  3. Luke Massey3,
  4. Beatrijs Wokke4,
  5. Reza Moosavi2,
  6. Eleanna Kara5,
  7. Henry Houlden3
  1. 1Department of Neurosurgery, National Hospital for Neurology and Neurosurgery, London, UK
  2. 2Department of Neuro-Ophthalmology, National Hospital for Neurology and Neurosurgery, Queen Square, UK
  3. 3Department of Neurology, National Hospital for Neurology and Neurosurgery, London, UK
  4. 4Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, London, UK
  5. 5Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
  1. Correspondence to Dr Fion Bremner, Department of Neuro-Ophthalmology, National Hospital for Neurology and Neurosurgery, Queen Square WC1N 3BG, UK; fion.bremner{at}uclh.nhs.uk

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A 39-year-old woman presented with progressive leg weakness and spasticity. She had been born at a low birth weight and had spent 8 days in a special care baby unit. She began talking at age 3 years. From the age of 21 years, she became unsteady with dragging of her left leg. Her cognitive function had never been normal and her memory deteriorated over several years (box 1).

Box 1 Typical presentation of Kjellin syndrome

Progressive leg weakness and spasticity

Learning difficulties

Amyotrophy

Pigmentary retinopathy

MRI features

Thin corpus callosum

White matter abnormalities, including patchy periventricular signal change

On examination, she had mild ptosis. Her best corrected visual acuity was 6/9 in both eyes, with full colour vision. We could not complete a formal visual field assessment owing …

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