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Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation
  1. Rubens Paulo A Salomão,
  2. José Luiz Pedroso,
  3. Orlando G P Barsottini
  1. Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Brazil
  1. Correspondence to Dr José Luiz Pedroso, Department of Neurology, Universidade Federal de São Paulo, São Paulo, SP, 04021-001, Brazil; jlpedroso.neuro{at}gmail.com

https://doi.org/10.1136/practneurol-2018-001888

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    Abstract

    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.

    Case report

    A 17-year-old Brazilian woman, born from consanguineous parents, reported skin lesions and photosensitivity with minimal sun exposure, , since 1-year-old. When she was 5 years old, she presented with progressive gait disturbances, frequent falls, hearing loss and …

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    Footnotes

    • 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.