XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX - A FURTHER CASE

We report on a male patient born to healthy, first cousin, Morrocan pa rents. During the pregnancy growth retardation was observed. Birth wei ght, length, and OFC were all well below the 3rd centile. Facial anoma lies, micropthalmia, cleft palate, small penis, and flexion contractur es of large joints were noted. Cerebral MRI showed dysmyelination. Teh clinical course was charcaterised by feeding difficulties, growth fai lure, lack of development, photosensitivity, and death at 7 months. Th e main differential diagnoses were COFS syndrome and early Cockayne sy ndrome (CS). UV exposure of cultured fibroblasts showed inhibition of nucleic acids synthesis. Further DNA repair stidies showed extreme cel lular sensitivity to UV and xeroderma pigmentosum (XP)-like defective nucleotide excision repair (NER), which in combination with the clinic al symptoms indicated the very rare XP-CS complex. Complementation ana lysis showed that the XPG gene is affected in this patient. In cases s uspected of having COFS syndrome and early onset CS, extensive DNA rep air studies are needed to reach the definitive diagnosis, thereby allo wing reliable genetic counselling and prenatal diagnosis.