NYMC Faculty Publications
Xeroderma Pigmentosum/de Sanctis-Cacchione Syndrome: Unusual Cause of Ataxia
Author Type(s)
Faculty
DOI
10.1159/000362115
Journal Title
Case Reports in Neurology
First Page
83
Last Page
87
Document Type
Article
Publication Date
1-1-2014
Department
Neurology
Disciplines
Medicine and Health Sciences
Abstract
INTRODUCTION: 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).
CASE REPORT: 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.
CONCLUSION: XP and related disorders should be considered in the setting of neurological disorder and multiple cutaneous cancers.
Recommended Citation
Fekete, R. (2014). Xeroderma Pigmentosum/de Sanctis-Cacchione Syndrome: Unusual Cause of Ataxia. Case Reports in Neurology, 6 (1), 83-87. https://doi.org/10.1159/000362115
