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Neurofibromatosis Type 1: Diagnostic Timelines in Children by F.J. García-Martínez; A. Hernández-Martín is a Medicine article available to read on EtoBox.

What is Neurofibromatosis Type 1: Diagnostic Timelines in Children about?

Background and objectives Diagnosis of neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of considering café-au-lait macules and skinfold freckling as a single diagnostic criterion. Patients and methods Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café-au-lait macules and skinfold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases. Results We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was t

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Author

F.J. García-Martínez; A. Hernández-Martín

Publisher

Elsevier BV

Published

2023

Language

ES

Field

Medicine (Health Sciences)