Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System

XU Jianing; GUO Yaxin; WANG Shanshan; YIN Lei; ZHU Jiaming; CHENG Wen; JIANG Hongkun; GAO Xinghua; XU Xuegang

doi:10.12376/j.issn.2097-0501.2023.02.007

罕见病研究 (Apr 2023)

Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System

XU Jianing,
GUO Yaxin,
WANG Shanshan,
YIN Lei,
ZHU Jiaming,
CHENG Wen,
JIANG Hongkun,
GAO Xinghua,
XU Xuegang

Affiliations

XU Jianing: Department of Dermatology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
GUO Yaxin: Department of Dermatology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
WANG Shanshan: Department of Radiology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
YIN Lei: Department of Urology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
ZHU Jiaming: Department of Gastrointestinal Oncology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
CHENG Wen: Department of Neurosurgery, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
JIANG Hongkun: Department of Pediatrics, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
GAO Xinghua: Department of Dermatology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
XU Xuegang: Department of Dermatology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China

DOI: https://doi.org/10.12376/j.issn.2097-0501.2023.02.007
Journal volume & issue: Vol. 2, no. 2
pp. 186 – 190

Abstract

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A 3-year-old male patient was diagnosed with neurofibromatosis type 1(NF1) for two years. The patient has multiple neurofibromas in retroperitoneum, lumbococcygeal paravertebral, lumbosacral spinal canal, and foramina. Due to retroperitoneal mass compression, the child suffered from urological complications such as hydronephrosis, ureterdilation, neurogenic bladder, etc., which seriously affected the urination function and resulted in multiple surgical treatments. Currently, the patient has been treated with mitogen activates extracelluar signal-regulated kinases(MEK) inhibitor selumetinib targeted therapy, and has voluntarily urinated, and his general state is better than before medication. The diagnosis and treatment of this case reflects the importance of multidisciplinary collaboration in the diagnosis and treatment of rare diseases.

Published in 罕见病研究

ISSN: 2097-0501 (Print)
Publisher: Editorial Office of Journal of Rare Diseases
Country of publisher: China
LCC subjects: Medicine
Website: https://jrd.chard.org.cn/indexen.htm

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