|Contributed by Antje Bornemann, MD1, Jürgen Bohl, MD2, Hans-Michael Schneider, MD3, Hans H. Goebel, MD2, Peter F. Schmidt, PhD4 and Romain K. Gherardi, MD5|
1Institute of Brain Research, Eberhard-Karls University, Tübingen, Germany;
2Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany;
3Department of Pathology, St. Vincentius Hospitals, Karlsruhe, Germany;
4Institute for Medical Physics and Biophysics, Westfälische Wilhelms-University, Münster, Germany;
5Department of Pathology, Hôpital Henri Mondor, Créteil, France
|Published on line in July 2003|
A female in her 60s general practitioner first noticed muscular atrophy of both arms 10 years ago. She also experienced difficulties standing in an upright position because of weakness of her paraspinal muscles, and difficulties walking downhill. She uses walking canes and is exhausted after walking more than 500 m. Creatine kinase was slightly elevated (95 U/l). There is no family history of muscular diseases. On physical examination she showed facial weakness and reduced muscular strength of the shoulder and upper arm muscles, with scapular winging. There was also weakness of limb girdle muscles with Gowers' maneuver, atrophy of upper leg muscles, and hyperlordosis. The EMG of her right medial vastus muscle revealed a myopathic pattern whereas nerve conduction velocities were normal. A tentative diagnosis of facioscapulohumeral dystrophy (FSHD) was made. A biopsy was taken from the left deltoid muscle. Vaccination against hepatitis A and B into the left deltoid muscle had been performed 4 weeks prior to biopsy.
Muscle fibers were normal (Fig. 1) except for a few hypotrophic fibers (not shown). In the perimysial connective tissue, a single large collection of macrophages contained PAS+ deposits (Figs. 1 and 2). On electron microscopic examination, the deposits consisted of densely packed spicules measuring 60-120 nm in length and 1-2 nm in width (Fig. 3; bar = 2 µm).