Degeneffe Aurélie, Dagonnier Marie, D'hondt Alain, Elosegi Jose Antonio
Department of Neurology, CHU Ambroise Paré Hospital, Boulevard John Fitzgerald Kennedy 2, 7000, Mons, Belgium.
Intensive Care Unit, CHU Ambroise Paré Hospital, Mons, Belgium.
BMC Neurol. 2018 Oct 18;18(1):173. doi: 10.1186/s12883-018-1176-3.
Progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome is a rare neurological condition. Its clinical characteristics include axial and limb muscle rigidity, myoclonus, painful spasms and hyperekplexia. Diagnosis of this disease can be very challenging and optimal long-term treatment is unclear.
We report a case of a 62 year old patient admitted for repetitive myoclonus and rigidity in the lower limbs progressing since 10 years, associated with a fluctuating encephalopathy requiring stays in Intensive Care Unit. Multiple diagnostics and treatment were proposed, unsuccessfully, before the diagnosis of PERM syndrome was established. In association with the clinical presentation, a strong positive result for GAD (glutamic acid decarboxylase) antibodies lead to the diagnosis of PERM syndrome.
PERM syndrome is a rare disease and its diagnosis is not easy. Once the diagnosis is established, the correct treatment should follow and could be lifesaving, regardless of a delayed diagnosis. Maintenance of long-term oral corticotherapy is suggested to prevent relapses.
僵人综合征伴肌阵挛（PERM）是一种罕见的神经系统疾病。其临床特征包括躯干和四肢肌肉僵硬、肌阵挛、疼痛性痉挛和惊吓反射亢进。该病的诊断极具挑战性，最佳的长期治疗方案尚不明确。
我们报告一例62岁患者，自10年前起出现下肢反复肌阵挛和僵硬，并伴有波动性脑病，需入住重症监护病房。在确诊PERM综合征之前，曾进行多次诊断和治疗，但均未成功。结合临床表现，谷氨酸脱羧酶（GAD）抗体检测呈强阳性，从而确诊为PERM综合征。
PERM综合征是一种罕见疾病，诊断不易。一旦确诊，应采取正确治疗，这可能挽救生命，即便诊断延迟。建议长期口服皮质激素治疗以预防复发。
