1. Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System
- Author
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XU Jianing, GUO Yaxin, WANG Shanshan, YIN Lei, ZHU Jiaming, CHENG Wen, JIANG Hongkun, GAO Xinghua, and XU Xuegang
- Subjects
neurofibromatosis type 1 ,plexiform neurofibroma ,hydronephrosis ,selumetinib ,Medicine - Abstract
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
- 2023
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