Kyllerman M, Brandberg G, Wiklund L-M, Månsson J-E
Section of Neuropediatrics, The Queen Silvia Children's Hospital, Göteborg, Sweden.
Neuropediatrics. 2002 Apr;33(2):69-72. doi: 10.1055/s-2002-32366.
We describe painful subcutaneous lipomatosis in four members of a two-generation family. Lipomas appeared in adulthood, were circumscribed, painful on touch and mainly localized to the trunk and proximal parts of the extremities. The disorder was associated with dysarthria, visual pursuit defect and progressive dystonia. MRI showed bilateral increasing cystic lesions in the basal parts of the putamen. No other abnormalities were detected. The lesions corresponded well with the clinical presentation in the patients. Investigation for mitochondrial disease with muscle biopsy and mitochondrial DNA gave normal results. No consistent biochemical changes were found. The disorder in this family was considered to differ from MERRF with lipomatous lesions and multiple symmetric lipomatosis but compatible with a Dercum disease variant.
我们描述了一个两代家族中四名成员患有的疼痛性皮下脂肪瘤病。脂肪瘤在成年期出现，边界清晰，触痛，主要位于躯干和四肢近端。该疾病与构音障碍、视跟踪缺陷和进行性肌张力障碍有关。磁共振成像（MRI）显示双侧壳核底部囊性病变增多。未检测到其他异常。这些病变与患者的临床表现高度相符。通过肌肉活检和线粒体DNA对线粒体疾病进行的检查结果正常。未发现一致的生化变化。该家族的这种疾病被认为与伴有脂肪瘤性病变的肌阵挛性癫痫伴破碎红纤维综合征（MERRF）和多发性对称性脂肪瘤病不同，但与德卡姆病变体相符。
