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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

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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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