Wiedemann-Rautenstrauch syndrome. A case report and review of the literature

Abstract

In 1977 Rautenstrauch and Snigula reported on two sisters with a previously undescribed, progeria-like syndrome. Two years later Wiedemann described two unrelated males with the same condition. Since than only a few published cases appeared in the literature. We had the opportunity to study a boy affected by this extremely rare condition. This boy was born after intrauterine growth retardation. At birth two natal teeth were present. OFC was normal despite apparent macrocephaly. During infancy a progeroid appearance was noted with sparse hair, prominent scalp veins, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. The face was triangular with a small maxilla and a protuding chin, the eyes were low-set, the eyebrows and eyelashes were scanty. At the age of 3.5 years there was striking general deficiency of subcutaneous fatty tissue apart from accumulation of adipose tissue on the buttocks and flanks, growth was retarded, mental development was at the low borderline of normal. Cholesterolemia was at the upper range of normal, there was an increase of triglycerides: 3.31 mmol/L (Normal < 1 mmol/L). Other progeroid syndromes such as Hutchinson-Guilford, Berardinelli-Seip, De Barsy, leprechaunism, Cockayne and Hallerman-Streiff could be excluded as well as the CDG syndrome. This condition is most probably inherited as an autosomal recessive trait.