Differential Diagnosis of Progeroid Neonatal Syndrome
https://doi.org/10.31550/1727-2378-2023-22-7-37-42
Abstract
Aim. Аnalysis and synthesis of the literature data on the problem of differential diagnosis of neonatal progeroid syndrome.
Key points. One of the rarest representatives of premature aging syndromes is neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome). It is an ultra-orphan disease with autosomal recessive type of inheritance, associated with a mutation in the POLR3A, POLR3B, POLR3GL genes and characterized by congenital lipodystrophy and premature aging.
The disease manifests from the first days of life: low body length and weight at birth, pronounced phenotypic features (pseudohydrocephaly, progeroid facial features, generalized lipodystrophy, neonatal incisors). Severe bronchopulmonary and skeletal damage is seen over the course of life, and average life expectancy ranges from 7 months to 2 years but can reach 27 years. The differential diagnosis is made with Hutchinson–Gilford syndrome (progeria), which clinical signs manifest at 1.5-2 years of age, and with Marfan-progeroid lipodystrophy, Fontaine syndrome, and Sekkel syndrome.
Conclusion. Early diagnostics is necessary for predicting the course of the disease, selection of treatment, and determining of further management.
About the Authors
A. L. Kungurtseva
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
8 Trubetskaya Str., bld.2, Moscow, 119991
A. V. Vitebskaya
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
8 Trubetskaya Str., bld.2, Moscow, 119991
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For citations:
Kungurtseva A.L., Vitebskaya A.V. Differential Diagnosis of Progeroid Neonatal Syndrome. Title. 2023;22(7):37-42. (In Russ.) https://doi.org/10.31550/1727-2378-2023-22-7-37-42
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