Summary

Neuromuscul Disord. 2012 May;22(5):389-93. doi: 10.1016/j.nmd.2011.11.003. Epub 2011 Dec 21.

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.

Abstract:

Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-onset Pompe disease whose muscle pathology showed no typical vacuolated fibers but did show unique globular inclusions with acid phosphatase activity. The acid phosphatase-positive globular inclusions may be a useful diagnostic marker for adult-onset Pompe disease even when typical vacuolated fibers are absent.

日本語要旨:

ポンペ病特有の筋線維内空胞性変化を欠く2例の成人型ポンペ病例を報告した。両例とも細胞質内に酸フォスファターゼ陽性の封入体を有していた。後方視的に検討したところ、同様の封入体は小児例・成人例の大半に認められた。従って、酸フォスファターゼ陽性封入体は特に診断が難しいとされる成人型の診断に有用であると考えられる。

PMID:  22196155

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