Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.6981
Peer-review started: October 30, 2021
First decision: March 23, 2022
Revised: April 5, 2022
Accepted: June 4, 2022
Article in press: June 4, 2022
Published online: July 16, 2022
Processing time: 247 Days and 8.5 Hours
Schwannomatosis is a rare disease characterized by multiple schwannomas of the whole body. Although benign, schwannomatosis that occurs in important areas of the body, such as the brain and spinal canal, can cause considerable disability and mortality. The disease is rare, frequent and relapsing, and this poses a diagnostic and therapeutic challenge.
A 40-year-old male had multiple masses all over his body, starting at the age of 19. Four years prior, he started to experience a progressive decrease in muscle strength in both lower limbs and developed urinary and defecation dysfunctions, and gradual paralysis. One month prior, the patient developed pain and numbness in his left forearm. The patient had undergone five surgical procedures for this disease in our department. Based on the family history, imaging examinations, pathological biopsy and molecular biological examinations, the diagnosis of schwannomatosis was confirmed. This time, the patient was admitted to our hospital again for a 6th operation because of the pain and numbness in his left forearm. After the operation, the patient's symptoms improved significantly; the patient recovered and was discharged from the hospital. At the last telephone follow-up, the patient reported a poor general condition but was alive.
Here, we report a rare case of schwannomatosis. We conducted 15 years of patient follow-up and treatment, and analyzed the timing of surgery and patient psychology. This case will further extend our overall understanding of the diagnosis and treatment of this rare tumor.
Core Tip: Schwannomatosis is a rare disease characterized by multiple schwannomas throughout the body. There are only a few reports of clinical cases of schwannomatosis. Here, we describe a patient who has been followed up for 15 years and has been treated with surgery 6 times. According to the family history, magnetic resonance imaging scan results, immunohistochemistry results and larger sequencing results, the patient was confirmed to have schwannomatosis. We summarized and discussed this case and reviewed the literature on the pathogenesis, clinical manifestations, clinical diagnosis and treatment of schwannomatosis.