Dataset Information

Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.

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.

SUBMITTER: Fekete R

PROVIDER: S-EPMC4000305 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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Publications

Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.

Fekete Robert R

Case reports in neurology 20140101 1

<h4>Introduction</h4>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).<h4>Case report</h4>The patient was a 55-year-old woman with a history of mental retardation who d ...[more]

PMID: 24803908

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Project description:OBJECTIVE:To assess the age at menarche and menopause of women with xeroderma pigmentosum, a DNA repair disease with premature aging, in a longitudinal natural history study. METHODS:We conducted a natural history study that reviewed medical records for gynecologic and reproductive health of all female patients with xeroderma pigmentosum aged older than 9 years examined at the National Institutes of Health (NIH). We performed gynecologic and laboratory examinations on a subset of the patients. Women in a second subset, who could not be examined, were interviewed using a questionnaire. Women who were deceased or lost to follow-up formed a third subset. RESULTS:Sixty females with xeroderma pigmentosum aged older than 9 years (median 29 years, range 10-61 years) were evaluated at the NIH from 1971 to 2018. Of these 60, 31 had history, questionnaire, record review, and gynecologic evaluation; 14 had record review and questionnaire interview by telephone; and 15 had only NIH record review. Menarche in females with xeroderma pigmentosum occurred at a median age of 12.0 years (range 9-17 years), which was comparable with the U.S. general population. Among the 18 patients with menopause, the median age at menopause of 29.5 years (range 18-49.5 years) was more than 20 years younger than in the U.S. general population (52.9 years). Premature menopause (before age 40 years) occurred in 14 of the 45 (31%) women aged 18 years or older, and primary ovarian insufficiency was documented in nine of them. There were 32 live births among 21 of the women, five of whom subsequently developed premature menopause. CONCLUSION:Females with xeroderma pigmentosum in our study had a normal age at menarche and were fertile but had increased incidence of premature menopause. Premature menopause, a symptom of premature aging, should be considered for gynecologic and reproductive health as well as implicating DNA repair in maintaining normal ovarian function. CLINICAL TRIAL REGISTRATION:ClinicalTrials.gov, NCT00001813.

Dataset Information

Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.

Introduction

Case report

Conclusion

Publications

Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.

Similar Datasets

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