Nussbaum Penelope E, Patel Puja D, Nussbaum Leslie A, Hilton Christopher W, Nussbaum Eric S
Department of Neurosurgery, National Brain Aneurysm & Tumor Center, United Hospital, Saint Paul, Minnesota, USA.
University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Pediatr Neurosurg. 2021;56(1):56-60. doi: 10.1159/000513112. Epub 2021 Feb 5.
Ring chromosome 22 (r[22]) can lead to the development of intracranial tumors such as meningiomas, neurofibromas, and schwannomas similar to neurofibromatosis 2 (NF2).
An 18-year-old female with r(22) and a history of global development delay and cognitive impairment presented with sudden hearing loss. MRI revealed bilateral vestibular schwannomas. Given documented audiologic decline in the patient's hearing, the larger tumor was treated with CyberKnife fractionated stereotactic radiosurgery, and the smaller tumor is being monitored.
This case provides further evidence that patients with r(22) can develop clinical features of NF2, including the development of bilateral vestibular schwannomas, and should be monitored for hearing disturbances starting in puberty as a warning sign for these tumors.
22号环状染色体（r[22]）可导致颅内肿瘤的发生，如脑膜瘤、神经纤维瘤和神经鞘瘤，类似于2型神经纤维瘤病（NF2）。
一名18岁女性，患有r(22)，有全球发育迟缓及认知障碍病史，出现突发听力丧失。磁共振成像（MRI）显示双侧前庭神经鞘瘤。鉴于该患者听力有记录的听力下降，较大的肿瘤采用射波刀分次立体定向放射外科治疗，较小的肿瘤正在监测中。
该病例进一步证明，r(22)患者可出现NF2的临床特征，包括双侧前庭神经鞘瘤的发生，青春期开始应监测听力障碍，作为这些肿瘤的警示信号。
