Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features

Claire Dolfus; Jean-Philippe Simon; Gérard Landemore; François Leroy; Françoise Chapon

doi:10.5114/fn.2016.62539

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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3/2016
vol. 54

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abstract:

Case report

Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features

Claire Dolfus

¹

,

Jean-Philippe Simon

²

,

Gérard Landemore

¹

,

François Leroy

³

,

Françoise Chapon

²

Department of Pathology, University Hospital of Caen, France
Department of Pathology and Neuromuscular Competence Center, University Hospital of Caen, France
Neuromuscular Competence Center, University Hospital of Caen, France

Folia Neuropathol 2016; 54 (3): 295-302

DOI: https://doi.org/10.5114/fn.2016.62539

Online publish date: 2016/10/03

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AMA

Dolfus C, Simon J, Landemore G, Leroy F, Chapon F. Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features. Folia Neuropathologica. 2016;54(3):295-302. doi:10.5114/fn.2016.62539.

APA

Dolfus, C., Simon, J., Landemore, G., Leroy, F.,  & Chapon, F. (2016). Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features. Folia Neuropathologica, 54(3), 295-302. https://doi.org/10.5114/fn.2016.62539

Chicago

Dolfus, Claire, Jean-Philippe Simon, Gérard Landemore, François Leroy,  and Françoise Chapon. 2016. "Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features". Folia Neuropathologica 54 (3): 295-302. doi:10.5114/fn.2016.62539.

Harvard

Dolfus, C., Simon, J., Landemore, G., Leroy, F.,  and Chapon, F. (2016). Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features. Folia Neuropathologica, 54(3), pp.295-302. https://doi.org/10.5114/fn.2016.62539

MLA

Dolfus, Claire et al. "Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features." Folia Neuropathologica, vol. 54, no. 3, 2016, pp. 295-302. doi:10.5114/fn.2016.62539.

Vancouver

Dolfus C, Simon J, Landemore G, Leroy F, Chapon F. Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features. Folia Neuropathologica. 2016;54(3):295-302. doi:10.5114/fn.2016.62539.

PlumX metrics:

Introduction: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim

of our study was to investigate the presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsies of patients with late-onset Pompe disease.

Material and methods: We retrospectively studied muscle biopsies of all cases of the adult form of Pompe disease diagnosed at the University Hospital of Caen. Three of these four cases showed atypical clinical signs, and diagnosis was established tardily based on family history or systematic analysis of acid maltase activity.

Results: All biopsies showed some rimmed vacuoles. The acid phosphatase reaction showed positive inclusions and labelled vacuoles in biopsies of all patients.

Conclusions: The presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsy should suggest the diagnosis of the adult form of Pompe disease, this is decisive since effective therapy is available.

keywords:

Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features

Claire Dolfus 1 , Jean-Philippe Simon 2 , Gérard Landemore 1 , François Leroy 3 , Françoise Chapon 2

muscle, storage, alpha-glucosidase, Pompe, lysosomal, pathology, rimmed, vacuole, phosphatase

Claire Dolfus

¹

,

Jean-Philippe Simon

²

,

Gérard Landemore

¹

,

François Leroy

³

,

Françoise Chapon

²