title: Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.
abstract: BACKGROUND
  Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million. It may also be a cause of neurological symptoms including sensorineural hearing loss, peripheral neuropathy, ataxia, and chorea. Severe neurological symptoms including mental retardation, short stature, and hypogonadism invoke De Sanctis-Cacchione syndrome (DCS).
  
  
  METHODS
  The patient was a 55-year-old woman with a history of mental retardation who developed chorea at age 32 and ataxia at age 37. She had numerous facial scars from 10 prior basal cell carcinoma excisions as well as diminished deep tendon reflexes, bilateral hearing loss, dysphagia, and skin freckling. Brain MRI revealed severe cortical, cerebellar, and brainstem atrophy. Supportive treatment and prevention of further damage from UV light is the mainstay of treatment in XP and DCS.
  
  
  CONCLUSIONS
  XP and related disorders should be considered in the setting of neurological disorder and multiple cutaneous cancers.
authors.affiliation: Department of Neurology, New York Medical College, Valhalla, N.Y., USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Fekete
keywords: Cutaneous cancer; De Sanctis-Cacchione syndrome; Mental retardation; Xeroderma pigmentosum