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Teaching NeuroImage: Axial muscle atrophy in adult-onset Pompe disease

From Neurological Institute (B.K., V.K., A.A.) and Division of Pulmonary and Critical Care Medicine (R.B.H.), University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, OH.

Address correspondence and reprint requests to Dr. Amer Alshekhlee, Department of Neurology, University Hospitals Case Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106-5040 amer.alshekhlee{at}uhhospitals.org

A 38-year-old man presented with a 2-year history of dyspnea resulting in hypercarbic respiratory failure. CT scan of the chest displayed atrophy of the thoracic paraspinal and chest wall muscles (figure). He had neck and abdominal muscle weakness with normal limbs strength. Creatine kinase was increased (704 IU/L; normal 0 to 240). Electromyography showed insertional myotonic discharges in paraspinal muscles without voluntary motor unit activity. Biopsy of the deltoid muscle demonstrated scarce lysosomal glycogen accumulation. Acid-alpha-glucosidase activity in a dried blood spot was reduced (0.59 to 3.88 pmol/punch/hour; normal: 10.00 to 48.96).

View larger version (31K): [in this window] [in a new window]   Figure Noncontrast CT scan of the chest showing severe atrophy with fat replacement of the paraspinal (arrows) and chest wall muscles in the patient (A) compared to an age-matched normal subject (B)

Adult-onset Pompe disease is a rare, potentially treatable glycogen storage disorder.¹ It may be overlooked because of the preferential involvement of the axial muscles resulting in truncal muscle weakness and respiratory failure.²

Disclosure: The authors report no conflicts of interest.

	REFERENCES

Top. REFERENCES

 

1. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68:99–107.[Abstract/Free Full Text]
2. Hagemans ML, Hop WJ, Van Doorn PA, et al. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 2006;66:581.[Abstract/Free Full Text]

This Article Figures Only Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Katirji, B. Articles by Alshekhlee, A. Search for Related Content PubMed PubMed Citation Articles by Katirji, B. Articles by Alshekhlee, A. Related Collections CT Muscle disease