Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System / 罕见病研究
JOURNAL OF RARE DISEASES
;
(4): 186-190, 2023.
Artigo
em Inglês
| WPRIM
| ID: wpr-1005074
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
JOURNAL OF RARE DISEASES
Ano de publicação:
2023
Tipo de documento:
Artigo
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