Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System
10.12376/j.issn.2097-0501.2023.02.007
- VernacularTitle:丛状神经纤维瘤压迫泌尿系的Ⅰ型神经纤维瘤病患儿
- Author:
Jianing XU
1
;
Yaxin GUO
1
;
Shanshan WANG
2
;
Lei YIN
3
;
Jiaming ZHU
4
;
Wen CHENG
5
;
Hongkun JIANG
6
;
Xinghua GAO
1
;
Xuegang XU
1
Author Information
1. 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.
2. 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.
3. 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.
4. 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.
5. 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.
6. 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.
- Publication Type:Journal Article
- Keywords:
neurofibromatosis type 1;
plexiform neurofibroma;
hydronephrosis;
selumetinib
- From:
JOURNAL OF RARE DISEASES
2023;2(2):186-190
- CountryChina
- Language:Chinese
-
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.
