Service de Dermatologie, Centre Hospitalo-Universitaire de Besançon, Besançon, France.
Département de Génétique, Hôpital Henri-Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.
Orphanet J Rare Dis. 2021 Jan 28;16(1):49. doi: 10.1186/s13023-021-01680-0.
Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain. The diagnosis requires the presence of several schwannomas and whole-body FDG-PET/MRI might help detect extra schwannomas in patients when the diagnosis is uncertain. Among the 25 patients treated for Schwannomatosis in our tertiary center, three men and two women had had a FDG-PET/MRI performed, and the number of schwannomas detected by FDG-PET/MRI outnumbered the number of schwannomas suspected during the clinical examination. The majority of schwannomas exhibited a radiolabeling (median of 66.7%, range 28-93%). Our findings show that FDG-PET/MRI could prove useful when suspecting schwannomatosis to accelerate diagnosis and offer optimal care to patients.
神经鞘瘤病是一种罕见的常染色体显性遗传综合征,其特征为多发性神经鞘瘤。主要症状为神经性疼痛。诊断需要存在多个神经鞘瘤,而全身 FDG-PET/MRI 可能有助于在诊断不确定时检测出患者的额外神经鞘瘤。在我们的三级中心治疗的 25 名神经鞘瘤病患者中,有 3 名男性和 2 名女性进行了 FDG-PET/MRI 检查,FDG-PET/MRI 检测到的神经鞘瘤数量超过了临床检查中怀疑的神经鞘瘤数量。大多数神经鞘瘤表现出放射性标记(中位数为 66.7%,范围为 28-93%)。我们的研究结果表明,当怀疑神经鞘瘤病时,FDG-PET/MRI 可能有助于加速诊断并为患者提供最佳治疗。