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. She had a swelling above the upper lip and multiple brown spots on her face, neck, arms and back. She was globally delayed, deaf, dumb and photophobic. MRI brain showed mild cerebral atrophy and bilateral demyelination. De Sanctis Cacchione variant (dSCS) and Rothmund Thomson syndrome (RTS), which were among the differential diagnosis were ruled out upon careful evaluation. 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. 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.
Keywords: Xeroderma Pigmentosum-Cockayne Syndrome complex (XP-CS), Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS).