Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Pisa 56128, Italy.
Metabolic and Muscular Unit, Meyer Children's Hospital, Florence, Italy.
Neuromuscul Disord. 2019 Jan;29(1):67-69. doi: 10.1016/j.nmd.2018.11.006. Epub 2018 Nov 22.
We present a 29-year-old man with visual failure since childhood, muscle weakness, subtle heart muscle hypertrophy, and seizures who was initially considered to be affected by a mitochondrial encephalomyopathy because of the multiple unspecific involvement of brain, muscle and retinal tissues. Only the muscle biopsy findings correctly guided the genetic investigations and the identification of an autophagic vacuolar myopathy due to a homozygous mutation in CLN3. We believe that information in autophagic muscle disorders should further alert clinicians to consider CLN3 in individuals with vacuolar myopathy, especially if they have visual and cardiac involvement.
我们报告了一位 29 岁男性患者，自幼视力丧失，肌肉无力，心肌轻度肥大，伴有癫痫发作。最初考虑为线粒体脑肌病，因为脑、肌肉和视网膜组织存在多种非特异性受累。只有肌肉活检结果正确指导了基因研究，发现了 CLN3 纯合突变导致的自噬空泡性肌病。我们认为，自噬性肌病的相关信息应进一步提醒临床医生，在空泡性肌病患者中考虑 CLN3，特别是当他们存在视力和心脏受累时。
