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Xeroderma pigmentosum is a group of rare autosomal recessive disorders characterised by skin sensitivity to ultraviolet light, a higher frequency of skin cancers, and abnormal skin pigmentation.1 Several neurological symptoms are described in xeroderma pigmentosum.2 We describe a young woman with xeroderma pigmentosum who presented with prominent neurological involvement and brain imaging abnormalities.
A 17-year-old Brazilian woman, born from consanguineous parents, reported skin lesions and photosensitivity with minimal sun exposure, since the age of 1 year. When she was 5 years old, she presented with progressive gait disturbances, frequent falls, hearing …
Contributors All authors provided an important contribution.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed by Aisling Carr, London, UK.