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
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.
