Медицинская библиотека · Archivos argentinos de pediatria · 2026

[Neurofibromatosis Type 1 in Pediatrics: Recommendations for Diagnosis and Management].

Flores Rosana M, Clerico Mosina Paola A, Crowe Cecilia I, Scacchi María F, Barabini Lidia N, Giachetti Ana M, Larralde Margarita, Salduna María D, Berra Paola, Pelizzari Mario, D Amato Silvia P, Alonso Guillermo F, Keselman Ana C, Costanzo Mariana, Aziz Mariana, Rodríguez Azrak María S, Martin Silvia E, Kuspiel María F, Martín Benítez Sabrina P, Pipman Viviana, Bengolea Viviana, Boulgourdjian Elisabeth, Tkalenko Natalia, Casanovas Alejandra, Solari Moro Analía, Geli Guadalupe A, Regalado Villamil María M, Buscio Mariela V, Pochetti Juliana, Bardavid Sebastián E, Galicchio Santiago, Boto Alejandra A, Elmeaudy Patricia, Martinoli María C, Bindi Verónica, Abudi Viviana, Negrete Gabriel, Laje Melisa, Calvano Roberta, Armando Romina I, Obregón María G, Appendino Juan I, Muro Valeria, Ciavarelli Patricia, Diez Blanca, Fainboim Alejandro, García Coppola María V, Giovo María E, Pichichero Gabriela, Maccario María F, Coirini Marcelo D

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Аннотация

Neurofibromatosis type 1 (NF1) is the most prevalent neurocutaneous syndrome, affecting approximately 1 in 3000 individuals. This genetic disorder involves multiple organ systems and exhibits marked variability in clinical presentation, with characteristic cutaneous, ophthalmological, neurological, cardiovascular, skeletal, and neurodevelopmental features. It may also be associated with multiple neoplasms. Timely and accurate diagnosis is essential to ensure optimal patient care. A lifelong, multidisciplinary management approach is recommended. The objective of this consensus is to summarize the clinical manifestations and provide evidence-based recommendations for the diagnosis and management of NF1.

Для цитирования: Flores Rosana M, Clerico Mosina Paola A, Crowe Cecilia I, Scacchi María F, Barabini Lidia N, Giachetti Ana M, Larralde Margarita, Salduna María D, Berra Paola, Pelizzari Mario, D Amato Silvia P, Alonso Guillermo F, Keselman Ana C, Costanzo Mariana, Aziz Mariana, Rodríguez Azrak María S, Martin Silvia E, Kuspiel María F, Martín Benítez Sabrina P, Pipman Viviana, Bengolea Viviana, Boulgourdjian Elisabeth, Tkalenko Natalia, Casanovas Alejandra, Solari Moro Analía, Geli Guadalupe A, Regalado Villamil María M, Buscio Mariela V, Pochetti Juliana, Bardavid Sebastián E, Galicchio Santiago, Boto Alejandra A, Elmeaudy Patricia, Martinoli María C, Bindi Verónica, Abudi Viviana, Negrete Gabriel, Laje Melisa, Calvano Roberta, Armando Romina I, Obregón María G, Appendino Juan I, Muro Valeria, Ciavarelli Patricia, Diez Blanca, Fainboim Alejandro, García Coppola María V, Giovo María E, Pichichero Gabriela, Maccario María F, Coirini Marcelo D. [Neurofibromatosis Type 1 in Pediatrics: Recommendations for Diagnosis and Management].. Archivos argentinos de pediatria. 2026. DOI: 10.5546/aap.2026-11104.

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