Journal of Rare Disorders: Diagnosis & Therapy

Muscle MRI in Classic Infantile Pompe Disease

Abstract Context: Neuromuscular imaging techniques are helpful tools to create a better understanding of pathophysiological processes of neuromuscular diseases. MRI has been used to study skeletal muscle damage in patients with late-onset Pompe disease. We used this technique to investigate the upper leg muscles of patients with classic infantile Pompe disease. Case report: Five patients with classic infantile Pompe disease were included. The median age was four months and none of the infants had yet been treated with enzyme replacement therapy. All patients had prominent muscle weakness and strikingly abnormal muscle histopathology sections taken from the lateral vastus muscle. Conclusions: MR images showed almost no abnormalities except for some hypertrophy of the muscles on T1 and T2-weighted images. The hypertrophic appearance of the muscles demonstrated using MRI in patients with classic infantile Pompe disease is consistent with the degree of muscle firmness palpated on clinical examination. Further investigation is required to establish if the hypertrophic appearance of muscles on MRI in classic infantile patients is related to the glycogen accumulation observed in muscle biopsies. Keywords: Pompe disease; Lysosomal storage disorder; Glycogen storage disease type II; MRI Muscle biopsy Abbreviations: AIMS: Alberta Infant Motor Scale; ERT Enzyme Replacement Therapy; GAA Acid α-glucosidase; MRI Magnetic Resonance Imaging; PAS Periodic Acid-Schiff; TR Repetition Time; TE Echo Time

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Author(s):

Stephan C Wens, Tessa E van Doeveren, Maarten H Lequin, Carin M van Gelder, Rob M Verdijk, Hannerieke J van der Hout, Pieter A van Doorn, Ans T van der Ploeg and Rene I de Coo

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