[Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation]

Abstract

Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) is an ultra-orphan disease from the group of premature aging syndromes with an autosomal recessive type of inheritance associated with mutations in the POLR3A, POLR3B, and POLR3GL genes encoding RNA polymerase III. The incidence of the disease is currently unknown. We present the first clinical description in Russian Federation of a patient 7 years 6 months old with Wiedemann-Rautenstrauch syndrome (compound heterozygous mutations in POLR3A gene) with progeroid features, adentia, growth retardation (height SDS -3,41, height velocity SDS -2,47), underweight (BMI SDS -6,20), and generalized lipodystrophy. The article presents the observation of the patient for 1.5 years, the world experience of dynamic follow-up of patients with neonatal progeroid syndrome, differential diagnosis, as well as recommendations for the management of patients with this syndrome. Given the lack of specific treatment to date, patients are observed by a multidisciplinary team of physicians.

Рисунок 1. Пациентка в возрасте 1 года 3 месяцев. Figure 1. Patient aged 1 year 3 months.

Рисунок 2. График роста. Figure 2. Growth graph.

Рисунок 3. График ИМТ. Figure 3. BMI graph.

Рисунок 4. Пациентка в возрасте 6 лет 5 месяцев. Figure 4. Patient aged 6 years 5 months.

Рисунок 5. Изолированный участок перераспределения подкожно-жировой клетчатки в копчиковой области. Figure 5. Isolated area of redistribution of subcutaneous fat in the coccygeal region.

Рисунок 6. Поперечная ладонная складка справа. Figure 6. Transverse palmar fold on the right.

Рисунок 7. Развитие мелкой моторики у пациентки. Figure 7. Development of fine motor skills in the patient