The neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): Case report and review of the literature

The neonatal progeroid syndrome represents a complex of symptoms with unkno wn cause and pathogenesis. At 37 weeks of uncomplicated pregnancy a boy of non-consanguineous turkish parents was delivered by sectio. The weight of 1 740 g and the length of 43 cm were striking, the circumference of the head was still within normal range. Further on the patient showed the diagnostic criteria of Wiedemann-Rautenstrauch syndrome: Beside growth failure and ne arly absence of subcutaneous fat, old-looking face with hydrocephalic appea rance, prominent scalp veins and sparse scalp hair, large hands and feet wi th long fingers and toes were found. Neonatal teeth didn't exist. But neona tal teeth are not always present in this syndrome. Among 19 published cases they were also not described in 6 cases (31,6%). Cataract was not found. A skin biopsy taken at the age of four months revealed an extremely thin der mis with pronounced rarefication of elastic material by light microscopy. O n the electron microscopical level, no qualitative morphological aberration s or signs of degeneration were found, but normal although very small elast ic fibres. With increasing age the appearance was nearly unchanged. In spit e of high-caloric nutrition the increase of weight was not sufficient. The clinical symptoms of this patients were compared with the 19 already pu blished ca ses of Wiedemann-Rautenstrauch syndrome. This shall be a contrib ution to the exact description of that extremely rare syndrome. We hope to facilitate, that hereby the differential diagnosis in difficult cases will be more easy. Because of heterogeneity it has to discuss if the Wiedemann-R autenstrauch syndrome really represents a separate genetic entity within th e group of premature aging syndroms.