alexa Abstract | Muscle MRI in Classic Infantile Pompe Disease

Journal of Rare Disorders: Diagnosis & Therapy
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Research Article Open Access


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

To read the full article Peer-reviewed Article PDF image | Peer-reviewed Full Article image

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


Orphan Diseases, Rare Congential disorders

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us