Quinonez Jonathan, Ruxmohan Samir, Paesani Sylvia, Patel Abhinav, Edaki Omo
Neurology/Osteopathic Neuromuscular Medicine, Larkin Community Hospital, Miami, USA.
Neurology, Larkin Community Hospital, Miami, USA.
Cureus. 2021 Nov 10;13(11):e19435. doi: 10.7759/cureus.19435. eCollection 2021 Nov.
Neurofibromatosis type 1 (NF-1), also known as Von Recklinghausen's disease, is an autosomal-dominant disease that is characterized by high-frequency mutations leading to multiple benign tumors called neurofibromas and café au lait spots on the skin. Although NF-1 mainly affects the nervous system, it can have multisystem involvement as well, associated with the cardiovascular, orthopedic, gastrointestinal, and dermatologic systems. Psychiatric complications like anxiety, dysthymia, and depression have also been reported in patients with NF-1. The prevalence of this disorder is one in 3,000 births. NF-1 patients have a higher prevalence of seizures compared to the general population. A 20-year-old male with a diagnosis of NF-1 at the age of three months presented to the emergency room (ER) of a local hospital for the evaluation of an unwitnessed seizure characterized by loss of consciousness and bladder control. MRI of the brain without contrast revealed hyperintensities in the mesial temporal lobe bilaterally, with a hyperintense FLAIR lesion in the splenium of the corpus callosum. The patient exhibited sudden aggression and combativeness while in the ER and also experienced a second seizure, which prompted immediate intubation. A second MRI with contrast confirmed the presence of the lesion. The patient also underwent electroencephalogram (EEG) monitoring later during his hospital stay, the results of which were unremarkable. This case report discusses an adult male with NF-1 and a tumor of the splenium of the corpus callosum. The displayed imaging suggested a possible etiology for high seizure frequency in patients with NF-1 compared to the general population.
1型神经纤维瘤病(NF-1),也称为冯雷克林霍增氏病,是一种常染色体显性疾病,其特征是高频突变导致多发性良性肿瘤,即神经纤维瘤,以及皮肤上的牛奶咖啡斑。虽然NF-1主要影响神经系统,但它也可能累及多个系统,与心血管、骨科、胃肠道和皮肤系统有关。NF-1患者还报告有焦虑、心境恶劣和抑郁等精神并发症。这种疾病的患病率为三千分之一。与普通人群相比,NF-1患者癫痫发作的患病率更高。一名20岁男性在三个月大时被诊断为NF-1,因一次无人目睹的以意识丧失和膀胱失控为特征的癫痫发作而前往当地医院急诊室就诊。脑部无造影剂的MRI显示双侧内侧颞叶有高信号,胼胝体压部有一个高信号的液体衰减反转恢复(FLAIR)病变。该患者在急诊室时突然出现攻击性行为和好斗情绪,还经历了第二次癫痫发作,这促使立即进行插管。第二次有造影剂的MRI证实了病变的存在。该患者在住院期间还接受了脑电图(EEG)监测,结果无明显异常。本病例报告讨论了一名患有NF-1和胼胝体压部肿瘤的成年男性。所展示的影像学检查提示了NF-1患者与普通人群相比癫痫发作频率高的可能病因。