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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
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 …
Contributors VAN was responsible for drafting the manuscript. FB was responsible for conception and design of the manuscript; he revised the manuscript. LM revised the manuscript. BW revised the manuscript. EK did the Sanger sequencing and revised the manuscript. RM identified the pigmentary retinopathy and revised the manuscript. HH revised the manuscript.
Competing interests None.
Patient consent Obtained.
Ethics approval Case report format.
Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Simon Hammans, Southampton, UK.