NEUROLOGY 2008;70:e36
© 2008 American Academy of Neurology
Resident and Fellow Section
Teaching NeuroImage: Axial muscle atrophy in adult-onset Pompe disease
Bashar Katirji, MD,
Vita Kesner, MD, PhD,
Rana B. Hejal, MD and
Amer Alshekhlee, MD, MSc
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).
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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)
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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.
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REFERENCES
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- 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]
- 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]
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