| CASE REPORT |
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| Year : 2012 | Volume
: 18
| Issue : 1 | Page : 125-126 |
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Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association
Usha Rani Singh, Shujaath Asif, Peter Prasanth Kumar Kommu, Philomina D'Souza
Department of Pediatrics, Pondicherry Institute of Medical Sciences, Pondicherry, India
Correspondence Address:
Usha Rani Singh
Department of Pediatrics, Pondicherry Institute of Medical Sciences, Pondicherry
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.96681
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Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP-CS, with facial phenotype of CS, and CNS demyelination. |
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