Wiedemann-Rautenstrauch Syndrome (WRS), also known as neonatal progeroid syndrome, is an extremely rare genetic syndrome characterized by a senile appearance at birth with multiple complex symptoms. We reported a case of a three-days old male neonate with features of WRS presented with fatal hyperkalemic renal failure which is a unique presentation not reported before in the cases affected with this syndrome. There is a positive family history of a previous sibling with the same features who suddenly died during the first week of life. This case report aimed to increase the awareness of WRS about the features and the importance of close follow-up of the affected cases, especially in the neonatal period among neonatal physicians.
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http://dx.doi.org/10.7759/cureus.29320 | DOI Listing |
Children (Basel)
June 2024
Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary.
Introduction: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis).
View Article and Find Full Text PDFWiedemann-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.
View Article and Find Full Text PDFHum Genet
May 2024
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.
Mol Genet Genomic Med
March 2024
Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
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