伴有颈胸段脂肪瘤病的肌阵挛性癫痫伴破碎红纤维综合征（MERRF综合征）。
MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis.
作者信息
Carré F, Hervochon R, Foirest C, Tankéré F
机构信息
Service d'ORL et chirurgie cervico-faciale, faculté de médecine, hôpital Pitié-Salpêtrière, Sorbonne Université, AP-HP, 75013 Paris, France.
Service d'ORL et chirurgie cervico-faciale, faculté de médecine, hôpital Pitié-Salpêtrière, Sorbonne Université, AP-HP, 75013 Paris, France.
出版信息
Eur Ann Otorhinolaryngol Head Neck Dis. 2019 Apr;136(2):113-114. doi: 10.1016/j.anorl.2018.10.015. Epub 2018 Nov 5.
INTRODUCTION
Patients with MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) usually present with encephalomyopathy. However, progressive, recurrent cervicothoracic lipomatosis may be rarely observed.
CASE REPORT
The authors report 4 cases of MERRF syndrome associated with lipomatosis. In 3 patients, the diagnosis of MERRF syndrome was established on the basis of the clinical features of the lipomas and clinical interview revealing a personal or family history of lipomas and myopathy.
DISCUSSION
In the presence of extensive spinal lipomatosis, the presence of other clinical signs of MERRF syndrome in the patient or the patient's family must be investigated. A diagnosis of MERRF syndrome can guide appropriate genetic counselling.
引言
肌阵挛性癫痫伴破碎红纤维综合征（MERRF综合征）患者通常表现为脑肌病。然而，进行性复发性颈胸段脂肪瘤病可能很少见。
病例报告
作者报告了4例与脂肪瘤病相关的MERRF综合征病例。在3例患者中，根据脂肪瘤的临床特征以及临床访谈揭示的个人或家族脂肪瘤和肌病病史，确诊为MERRF综合征。
讨论
在存在广泛的脊柱脂肪瘤病的情况下，必须调查患者或患者家族中是否存在MERRF综合征的其他临床体征。MERRF综合征的诊断可以指导适当的遗传咨询。
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