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Gene diagnosis of infantile neurofibromatosis type I: A case report

BACKGROUND: Neurofibromatosis is an autosomal dominant genetic disorder with various manifestations. Systemic multiple neurofibromatosis is rare in infancy. The disease is difficult to identify in the early stage, and it is prone to misdiagnosis and missed diagnosis. In the presence of lower limb sw...

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Autores principales: Li, Meng-Zhu, Yuan, Lin, Zhuo, Zhi-Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716326/
https://www.ncbi.nlm.nih.gov/pubmed/33344560
http://dx.doi.org/10.12998/wjcc.v8.i22.5678
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author Li, Meng-Zhu
Yuan, Lin
Zhuo, Zhi-Qiang
author_facet Li, Meng-Zhu
Yuan, Lin
Zhuo, Zhi-Qiang
author_sort Li, Meng-Zhu
collection PubMed
description BACKGROUND: Neurofibromatosis is an autosomal dominant genetic disorder with various manifestations. Systemic multiple neurofibromatosis is rare in infancy. The disease is difficult to identify in the early stage, and it is prone to misdiagnosis and missed diagnosis. In the presence of lower limb swelling with subcutaneous nodules of unknown cause, café-au-lait spots, and axillary freckles, this disease must be considered. This report presents the clinical manifestations, early detection, diagnosis and treatment, and prognosis of infantile neurofibromatosis type I (NF1). CASE SUMMARY: The clinical manifestations, imaging examinations, and gene results of a 3-mo-old male infant with NF1 were analyzed retrospectively. He had “swelling of both legs” at the onset and developed café-au-lait spots, axillary freckles, and multiple neurofibromas later. He had a family history of similar conditions. Gene detection showed a heterozygous mutation of c.4537C>T in the NF1 gene, leading to a nonsense mutation of amino acids (p.R1513x), which originated from the mother of the infant. He was diagnosed with NF1. CONCLUSION: Gene diagnosis plays an important role in the early diagnosis of NF1.
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spelling pubmed-77163262020-12-18 Gene diagnosis of infantile neurofibromatosis type I: A case report Li, Meng-Zhu Yuan, Lin Zhuo, Zhi-Qiang World J Clin Cases Case Report BACKGROUND: Neurofibromatosis is an autosomal dominant genetic disorder with various manifestations. Systemic multiple neurofibromatosis is rare in infancy. The disease is difficult to identify in the early stage, and it is prone to misdiagnosis and missed diagnosis. In the presence of lower limb swelling with subcutaneous nodules of unknown cause, café-au-lait spots, and axillary freckles, this disease must be considered. This report presents the clinical manifestations, early detection, diagnosis and treatment, and prognosis of infantile neurofibromatosis type I (NF1). CASE SUMMARY: The clinical manifestations, imaging examinations, and gene results of a 3-mo-old male infant with NF1 were analyzed retrospectively. He had “swelling of both legs” at the onset and developed café-au-lait spots, axillary freckles, and multiple neurofibromas later. He had a family history of similar conditions. Gene detection showed a heterozygous mutation of c.4537C>T in the NF1 gene, leading to a nonsense mutation of amino acids (p.R1513x), which originated from the mother of the infant. He was diagnosed with NF1. CONCLUSION: Gene diagnosis plays an important role in the early diagnosis of NF1. Baishideng Publishing Group Inc 2020-11-26 2020-11-26 /pmc/articles/PMC7716326/ /pubmed/33344560 http://dx.doi.org/10.12998/wjcc.v8.i22.5678 Text en ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. http://creativecommons.org/licenses/by-nc/4.0/ This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial.
spellingShingle Case Report
Li, Meng-Zhu
Yuan, Lin
Zhuo, Zhi-Qiang
Gene diagnosis of infantile neurofibromatosis type I: A case report
title Gene diagnosis of infantile neurofibromatosis type I: A case report
title_full Gene diagnosis of infantile neurofibromatosis type I: A case report
title_fullStr Gene diagnosis of infantile neurofibromatosis type I: A case report
title_full_unstemmed Gene diagnosis of infantile neurofibromatosis type I: A case report
title_short Gene diagnosis of infantile neurofibromatosis type I: A case report
title_sort gene diagnosis of infantile neurofibromatosis type i: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716326/
https://www.ncbi.nlm.nih.gov/pubmed/33344560
http://dx.doi.org/10.12998/wjcc.v8.i22.5678
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