Muscle biopsy in Pompe disease

Arquivos de Neuro-Psiquiatria

Lineu Cesar Werneck¹  Paulo José Lorenzoni¹  Cláudia Suemi Kamoi Kay¹  Rosana Herminia Scola¹ 

关键词: Glycogen storage disease type II;    muscle biopsy;    immunohistochemistry;    acid phosphatase;    vacuoles;    Doença de depósito de glicogênio tipo II;    biópsia muscular;    imunohistoquímica;    fosfatase ácida;    vacúolos;   

DOI  :  10.1590/0004-282X20130022

来源: SciELO

【 摘 要 】

Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases.Methods:A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases).Results:Vacuoles with or without glycogen storage were found in 18 cases. All cases had increased acid phosphatase activity. The vacuole frequency varied (almost all fibers in the infantile form to only a few in the juvenile/adult form). Atrophy of type 1 and 2 fibers was frequent in all forms. Atrophic angular fibers in the NADH-tetrazolium reductase and nonspecific esterase activity were observed in 4/9 of the juvenile/adult cases.Conclusion:Increased acid phosphatase activity and vacuoles were the primary findings. Most vacuoles were filled with glycogen, and the adult form of the disease had fewer fibers with vacuoles than the infantile or childhood forms.

【 授权许可】

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