Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.
Neurol Sci. 2023 Jun;44(6):1969-1978. doi: 10.1007/s10072-023-06703-1. Epub 2023 Mar 3.
To provide new and comprehensive evidence for diagnosis and management of FOSMN syndrome.
We reviewed our database to identify patients with FOSMN syndrome. Online database including PubMed, EMBASE, and OVID were also searched for relevant cases.
We identified a total of 71 cases, including 4 cases from our database and 67 ones from online searching. A predominance of male was observed [44 (62.0%)] with median onset age of 53 (range: 7-75) years old. The median (range) disease duration was 60 (3-552) months at the time of the visit. The initial symptoms could be sensory deficits in face (80.3%) or oral cavity (4.2%), bulbar paralysis (7.0%), dysosmia (1.4%), dysgeusia (4.2%), weakness or numbness of upper limbs (5.6%), or lower limbs (1.4%). Abnormal blink reflex was presented in 64 (90.1%) patients. CSF tests showed elevated protein level in 5 (7.0%) patients. Six (8.5%) patients had MND-related gene mutation. Five (7.0%) patients showed transient responsiveness to immunosuppressive therapy, then deteriorated relentlessly. Fourteen (19.7%) patients died, with an average survival time of around 4 years. Among them, five patients died of respiratory insufficiency.
The age of onset, progress of disease course, and prognosis of FOSMN syndrome could be varied significantly. The prerequisites of diagnosis were progressive and asymmetric lower motor neuron dysfunction, with sensory dysfunction which usually showed in face at the onset. Immunosuppressive therapy could be tried in some patients with suspected inflammatory clues. In general, FOSMN syndrome tended to be motor neuron disease with sensory involvement.
为 FOSMN 综合征的诊断和治疗提供新的、全面的证据。
我们检索了数据库以确定 FOSMN 综合征患者，并在线检索 PubMed、EMBASE 和 OVID 等数据库以查找相关病例。
共确定了 71 例患者，包括我们数据库中的 4 例和在线检索的 67 例。男性居多[44（62.0%）]，中位发病年龄为 53 岁（范围：7-75 岁）。就诊时中位（范围）病程为 60（3-552）个月。最初的症状可能是面部（80.3%）或口腔（4.2%）感觉缺失、球麻痹（7.0%）、嗅觉障碍（1.4%）、味觉障碍（4.2%）、上肢无力或麻木（5.6%）或下肢无力或麻木（1.4%）。64 例（90.1%）患者出现异常眨眼反射。5 例（7.0%）患者脑脊液蛋白水平升高。6 例（8.5%）患者存在 MND 相关基因突变。5 例（7.0%）患者对免疫抑制治疗有短暂反应，但随后病情不断恶化。14 例（19.7%）患者死亡，平均生存时间约为 4 年。其中，5 例患者因呼吸衰竭死亡。
FOSMN 综合征的发病年龄、疾病进展和预后可能差异很大。诊断的前提是进行性和不对称的下运动神经元功能障碍，最初通常表现为面部感觉功能障碍。对于有炎症线索的疑似患者可尝试免疫抑制治疗。一般来说，FOSMN 综合征倾向于运动神经元病伴感觉受累。
