Fidziańska Anna, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I
Neuromuscular Unit, MRC, Polish Academy of Science, 1a Banacha Str., 02-097 Warsaw, Poland.
Acta Neuropathol. 2004 Mar;107(3):197-203. doi: 10.1007/s00401-003-0794-y. Epub 2004 Jan 8.
We reported three cases (two familial and one sporadic) of X-linked Emery-Dreifuss muscular dystrophy (EDMD), genetically documented. Two patients demonstrated a typical inclusion body myositis (IBM)-like morphology. The third patient had only minor changes. Patients had elbow and ankle contractures, progressive wasting of humeroperoneal muscles and cardiac failure (pacemaker implantation in all). There was a mutation within the Xq28 gene and complete absence of emerin in the nuclear membrane. Mononuclear cell infiltrations, rimmed vacuoles, amyloid deposits, as well as cytoplasmic and nuclear tubulofilamentous muscle inclusions were most unusual findings. Coexistence of IBM-like morphology and X-linked recessive EDMD might indicate that pathological features of IBM are nonspecific and may be present in other neuromuscular disorders.
我们报告了3例经基因证实的X连锁型埃默里-德赖富斯肌营养不良症（EDMD）病例（2例家族性和1例散发性）。2例患者表现出典型的包涵体肌炎（IBM）样形态。第3例患者仅有轻微变化。患者均有肘部和踝部挛缩、肱腓肌进行性萎缩以及心力衰竭（均植入了起搏器）。Xq28基因存在突变，核膜中完全没有emerin。单核细胞浸润、镶边空泡、淀粉样沉积物以及细胞质和细胞核管状丝肌包涵体是最不寻常的发现。IBM样形态与X连锁隐性EDMD并存可能表明IBM的病理特征是非特异性的，可能存在于其他神经肌肉疾病中。
