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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Arq. Neuro-Psiquiatr. vol.75 no.11 São Paulo Nov. 2017 

Images in Neurology

Abnormal tongue features as a clinical clue for late-onset Pompe's disease

Achado anormal na língua como dica clínica para doença de Pompe de início tardio

Wladimir Bocca Vieira de Rezende Pinto1 

Paulo Victor Sgobbi de Souza1 

Thiago Bortholin1 

Fernando George Monteiro Naylor1 

Acary Souza Bulle Oliveira1 

1Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromuscular, São Paulo SP, Brasil

A 58-year-old woman presented with slowly-progressive lower limb weakness. Medical history disclosed a six-year history of obstructive sleep apnea syndrome (OSAS). Examination disclosed abnormal tongue features (Figure 1) and proximal flaccid tetraparesis. Muscle MRI showed marked compromise of the adductor magnus, and muscle biopsy disclosed vacuolar myopathy with PAS-positive vacuoles (Figure 2). Dried blood spot-based GAA (acid alpha-glucosidase) activity testing and GAA gene sequencing confirmed late-onset Pompe's disease (LOPD). Clinicians should consider LOPD in cases of limb-girdle weakness with atypical findings1, such as obstructive sleep apnea syndrome, pulmonary hypertension, axial involvement with myotonic or complex repetitive discharges and tongue weakness with fatty infiltration2.

Figure 1 Abnormal tongue morphology in LOPD. (A- B) Diffuse tongue atrophy and abnormal fatty replacement of the tongue musculature resembling a ‘tumor-like” structure in the right side of the tongue (white arrow). 

Figure 2 Muscle MRI and muscle biopsy findings in LOPD. (A) Right thigh muscle MRI showed marked compromise of the adductor magnus and mild involvement of the vastus medialis and vastus intermedius muscles. (B–D) Deltoid muscle biopsy showing vacuolar myopathy (black arrow-head) with PAS-positive vacuoles (black arrow). 


1. Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005;128(3):671-7. ]

2. Milisenda JC, Pujol T, Grau JM. Not only bright tongue sign in Pompe disease. Neurology. 2016;87(15):1629-30. ]

Received: December 17, 2016; Accepted: July 17, 2017

Correspondence: Wladimir Bocca Vieira de Rezende Pinto; Departamento de Neurologia e Neurocirurgia da UNIFESP; Rua Estado de Israel, 899; 04022-002 São Paulo SP, Brasil; E-mail:

Conflict of interest: There is no conflict of interest to declare.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.