Grech Neil, Caruana Galizia John Paul, Pace Adrian
Department of Medicine, Mater Dei Hospital, Msida, Malta
Edinburgh Medical School: Clinical Sciences, The University of Edinburgh College of Medicine and Veterinary Medicine, Edinburgh, UK.
Pract Neurol. 2022 Feb;22(1):48-50. doi: 10.1136/practneurol-2021-003087. Epub 2021 Jul 28.
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome (formerly stiff-man syndrome). It is rare and disabling, and characterised by brainstem symptoms, muscle stiffness, breathing issues and autonomic dysfunction. We describe a 65-year-old man who presented with odynophagia together with tongue and neck swelling, followed by multiple cranial nerve palsies culminating in bilateral vocal cord paralysis with acute stridor. He subsequently developed progressive generalised hypertonia and painful limb spasms. Serum antiglycine receptor antibody was strongly positive, but antiglutamic acid decarboxylase and other antibodies relating to stiff-person syndrome were negative. We diagnosed PERM and gave intravenous corticosteroids and immunoglobulins without benefit; however, following plasma exchange he has made a sustained improvement.
进行性脑脊髓炎伴强直和肌阵挛(PERM)是僵人综合征(原称僵人症)的一种亚型。它罕见且会导致残疾,其特征为脑干症状、肌肉僵硬、呼吸问题和自主神经功能障碍。我们报告一名65岁男性,他起初出现吞咽疼痛伴舌部和颈部肿胀,随后出现多组颅神经麻痹,最终发展为双侧声带麻痹并伴有急性喘鸣。随后他出现进行性全身肌张力增高和肢体疼痛性痉挛。血清抗甘氨酸受体抗体呈强阳性,但抗谷氨酸脱羧酶及其他与僵人综合征相关的抗体均为阴性。我们诊断为PERM,并给予静脉注射皮质类固醇和免疫球蛋白,但未见效果;然而,在进行血浆置换后,他持续好转。