孤立性先天性筋原性眼瞼下垂症および無顆粒性眼瞼下垂症の病理組織学的評価と臨床的相関の検討

A Study of Histopathologic Evaluation and Clinical Correlation for Isolated Congenital Myogenic Ptosis and Aponeurotic Ptosis.

• Hilal Nalci Baytaroğlu
• Bengisu Kaya
• Petek Korkusuz
• Melek B Hoşal

抄録

目的:

孤立性先天性筋原性・無顆粒性眼瞼下垂症における浮腫筋/無顆粒性物質の光顕微鏡所見および透過電子顕微鏡所見、および臨床所見との相関を評価する。

PURPOSE: To evaluate light microscopy and transmission electron microscopy findings of levator muscle/aponeurosis materials and their correlation with clinical findings in isolated congenital myogenic and aponeurotic blepharoptosis.

方法:

患者から人口統計学的および臨床的データを取得した。筋繊維の形態に関する定性的・定量的な評価は、平板筋・小骨膜切除術の際に切除された小骨膜の最近接部から得られた組織サンプルを用いて、光顕微鏡および透過型電子顕微鏡を用いて行った。

METHODS: Demographic and clinical data were obtained from patients. Qualitative and quantitative evaluations for muscle fiber morphology were performed using light microscopy and transmission electron microscopy on tissue samples which were obtained from the most proximal part of the aponeurosis excised during levator muscle/aponeurosis resection surgery.

結果:

症例のうち17例（55％）は孤立性先天性筋原性眼瞼下垂症であり、14例（45％）は無顆粒性眼瞼下垂症であった。両群ともに筋束分裂、細胞質喪失、中心核が認められた。筋組織の被覆は、筋原性群では67％で25％、11％で50％、11％で75％、11％で100％であった。アポニューロ群では、筋組織が試料の25％を覆っていたのは44.5％、11％で50％、44.5％で100％であった（χ、p＝0.52）。透過型電子顕微鏡下では、退化した小器官が占有するZ線の乱れを伴う筋原線維喪失領域が両群に存在し、所見は群間で有意差はなかった(χ, p > 0.05)。平均ミトコンドリア径は、アポニューロ眼瞼下垂症で有意に大きかった(Mann-Whitney U, p = 0.047)。機能的パラメータと顕微鏡的パラメータの間には相関関係は認められなかった。

RESULTS: Seventeen (55%) of the cases were isolated congenital myogenic ptosis, and 14 (45%) were aponeurotic ptosis. Muscle bundle splitting, cytoplasmic loss, and centrally located nuclei were observed in both groups. Muscle tissue covered 25% of the sample in 67% of the cases, 50% in 11%, 75% in 11%, and 100% in 11% in the myogenic group. In the aponeurotic group, muscle tissue covered 25% of the sample in 44.5% of the cases, 50% in 11%, and 100% in 44.5% (χ, p = 0.52). Myofibrillar loss areas accompanied by Z-line disorganization which were occupied by degenerated organelles were present in both groups under transmission electron microscopy, and findings were not significantly different between groups (χ, p > 0.05). Mean mitochondrial diameter was significantly larger in aponeurotic ptosis (Mann-Whitney U, p = 0.047). No correlation was found between functional and microscopic parameters.

結論:

線条筋の量の減少と繊維損傷指標の存在が両群で観察された。筋原性眼瞼下垂症における筋繊維の喪失は、筋形成不全の特徴である可能性があります。筋原性眼瞼下垂症における筋線維損傷は、酸化ストレスや長期的な収縮ストレスの増加によって説明できる可能性がある。さらなる遺伝学的および免疫組織化学的研究は、疾患の病態をさらに理解するのに役立つであろう。

CONCLUSION: Decreased amount of striated muscle and the presence of fiber damage indicators were observed in both groups. Muscle fiber loss in myogenic ptosis may be a feature of muscle dysgenesis. Ultrastructural damage in aponeurotic ptosis may be explained with increased oxidative stress or long-term contractile stress. Further genetic and immunohistochemical studies will be helpful to further understand the pathogenesis of diseases.