4 The molecular defect in XP-CS is persistence of the TFIIH complex at the sites of DNA damage that subsequently impairs DNA synthesis and transcription. 4 It comes from a group of DNA repair disorders that harbour defects in Nucleotide Excision Repair (NER), a protective cellular mechanism against UV light induced damage.5 Based on gene mutation, four complementation groups have been identified for XP-CS: XP-B, XP-D, XP-F and XP-G. 1,2 First described as a distinct clinical entity in 1974, 3 it has only 43 reported cases in the literature to date.

Xeroderma Pigmentosum-Cockayne Syndrome Complex (XP-CS) is an exceedingly rare genetic syndrome that exhibits the clinical features of two autosomal recessive diseases, Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) and paradoxically an XP genotype. Keywords: Xeroderma Pigmentosum-Cockayne Syndrome complex (XP-CS), Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS) This report shows that the diagnosis of XP-CS can be based on clinical features and MRI findings when the genetic testing is not available. Supportive treatment was given and regular checkups were recommended to monitor the progression of the disease but our patient did not show up for the follow up. De Sanctis Cacchione variant (dSCS) and Rothmund Thomson syndrome (RTS), which were among the differential diagnosis were ruled out upon careful evaluation. MRI brain showed mild cerebral atrophy and bilateral demyelination. She was globally delayed, deaf, dumb and photophobic. She had a swelling above the upper lip and multiple brown spots on her face, neck, arms and back. We present the case of a 3-year old girl with clinical manifestations typical of XP-CS, an extremely rare combination of Xeroderma Pigmentosum and Cockayne Syndrome.

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