Report of the first case of Wiedemann-Rautenstrauch syndrome in a patient from a South American hospital

Jorge Hernandez; Luis Dulcey; Valentina Ochoa; Juan Theran; Laura Badillo; Valentina Navas; Jaime Gomez

doi:10.1530/endoabs.109.EP17

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Endocrine Abstracts (2025) 109 EP17 | DOI: 10.1530/endoabs.109.EP17

SFEBES2025 ePoster Presentations Metabolism, Obesity and Diabetes (14 abstracts)

Report of the first case of Wiedemann-Rautenstrauch syndrome in a patient from a South American hospital

Jorge Hernández ¹ , Luis Dulcey ² , Valentina Ochoa ¹ , Juan Theran ¹ , Laura Badillo ¹ , Valentina Navas ¹ & Jaime Gómez ³

Author affiliations

¹University of Santander, Bucaramanga, Colombia; ²University of the Andes, Mérida, Venezuela; ³Autonomous University of Bucaramanga, Bucaramanga, Colombia

Introduction: Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, is an ultra-orphan disease classified among premature aging syndromes with an autosomal recessive inheritance pattern. It is associated with mutations in the POLR3A, POLR3B, and POLR3GL genes, which encode RNA polymerase III. The incidence of this syndrome is currently unknown.

Case presentation: We present the first clinical description of an 8-year-and-9-month-old patient with Wiedemann-Rautenstrauch syndrome in a South American hospital. The patient exhibited progeroid features, including edentulism, growth retardation, low weight, and generalized lipodystrophy. Genetic testing revealed compound heterozygous mutations in the POLR3A gene. The patient was observed for three years, allowing for dynamic follow-up and comprehensive assessment.

Discussion: This case contributes to the limited worldwide experience in monitoring patients with neonatal progeroid syndrome. It highlights the importance of differential diagnosis in such complex cases, considering the clinical overlap with other premature aging syndromes. As there is currently no specific treatment available for this condition, the patient is managed by a multidisciplinary team of healthcare providers, focusing on supportive care and monitoring for associated complications.

Conclusion: This report is the first of its kind in our region and one of the few globally, emphasizing the need for increased awareness and understanding of Wiedemann-Rautenstrauch syndrome. Future research and collaboration are crucial for developing effective management strategies and improving the quality of life for affected patients.