De Cauwer H, Heytens L, Lübke U, Ceuterick C, Martin J J
Department of Intensive Care in Collaboration, Born-Bunge Foundation, University of Antwerp (U.I.A), Belgium.
Clin Neuropathol. 1997 Sep-Oct;16(5):237-42.
We report a family that was referred to our laboratory after a fatal malignant hyperthermia (MH) accident during general anesthesia. Postmortem study of different muscles of the proband pointed retrospectively to the presence of central core disease (CCD). Of the 8 family members investigated by histology and in vitro contracture testing (IVCT) 5 were found to be MH-susceptible. Neurological examination was completely normal. Histologically, these 5 patients showed a highly variable proportion (6-89%) of cores in type 1 fibers on light microscopy. In 3 patients definite central cores were found, in 1 patient multicore disease was diagnosed, and 1 patients presented with a mixed central/paracentral form. Electron microscopy could detect cores in only 4 out of 5 patients. These results demonstrate the difficulty to diagnose central or multicore disease and suggest that mixed forms within the same family may occur. The one histologically dubious patient in this family shows that the most sensitive test for the diagnosis of this myopathy might be the IVCT.
我们报告了一个在全身麻醉期间发生致命恶性高热（MH）事故后被转诊至我们实验室的家族。对先证者不同肌肉的尸检回顾性地指出存在中央轴空病（CCD）。通过组织学和体外挛缩试验（IVCT）对8名家族成员进行调查，发现其中5名对MH易感。神经学检查完全正常。组织学上，这5例患者在光学显微镜下显示1型纤维中轴空的比例差异很大（6 - 89%）。在3例患者中发现了明确的中央轴空，1例患者被诊断为多核病，1例患者表现为中央/近中央混合形式。电子显微镜仅在5例患者中的4例检测到轴空。这些结果表明诊断中央或多核病存在困难，并提示同一家族中可能出现混合形式。该家族中1例组织学诊断存疑的患者表明，诊断这种肌病最敏感的检测方法可能是IVCT。
