Subscribe to RSS
DOI: 10.1055/s-2003-38616
Georg Thieme Verlag Stuttgart · New York
Congenital Myopathy with Abundant Ring Fibres, Rimmed Vacuoles and Inclusion Body Myositis-Type Inclusions
Publication History
Received: May 4, 2002
Accepted after Revision: November 9, 2002
Publication Date:
11 April 2003 (online)

Abstract
We report a 17-year-old girl with an unusual neuromuscular disorder characterised by slowly progressive proximal muscle weakness whose muscle biopsy showed multiple ring fibres and numerous rimmed vacuoles as well as intracytoplasmic and intranuclear inclusions of the inclusion body myositis-type. The clinical features of the presented case, manifested by the onset of the disease in early childhood, delayed motor development, short stature, lordosis and joint contractures were suggestive of congenital myopathy. The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.
Key words
Congenital myopathy - ring fibres - inclusion body myositis-type inclusions
References
- 1 Askanas V, Engel W K. Sporadic inclusion body myositis and its similarities to Alzheimer disease brain. Recent approaches to diagnosis and pathogenesis and relation to aging. Scand J Rheumatol. 1998; 27 389-405
- 2 Askanas V, Engel W K. Sporadic inclusion body myositis and hereditary inclusion body myopathies: current concepts of diagnosis and pathogenesis. Curr Opin Rheumatol. 1998; 10 530-542
- 3 Bethlem J, Wijngaarden G K. The incidence of ringed fibres and sarcoplasmic masses in normal and diseased muscle. J Neurol Neurosurg Psychiat. 1963; 26 326-332
- 4 Carpenter S. Inclusion body myopathy: a review. J Neuropathol Exp Neurol. 1996; 55 1105-1114
- 5 Coulter C L, Marks W A, Bodensteiner J B. et al . An adult onset myopathy characterized by a double ring appearance of muscle fibres. Neuromusc Disord. 1991; 1 205-209
- 6 Del Bigio M R, Jay V. Inclusion body myositis with abundant ring fibres. Acta Neuropathol. 1992; 85 105-110
-
7 Fidziańska A.
An approach to the pathogenesis of some congenital myopathies. Recent Achievements in Restorative Neurology. Vol. 2. Progressive Neuromuscular Diseases. London, Basel, New York; Karger 1986: 305-317 - 8 Fidziańska A, Badurska B, Ryniewicz B, Dembek I. Cap disease: new congenital myopathy. Neurology. 1981; 31 1113-1120
- 9 Goebel H H. Congenital myopathies. Semin Pediatr Neurol. 1996; 3 152-161
-
10 Goebel H H, Lenard H G.
Congenital myopathies. LP Rowland, Di Mauro S Handbook of Clinical Neurology. Vol 18 (62): Myopathies. Amsterdam; Elsevier Science Publishers 1992 - 11 Jongen P JH, Terlaak H J, Stadhouders A DM. Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Neuromusc Disord. 1995; 5 31-38
- 12 Ringel S P, Neville H E, Duster M C, Carroll J E. A new neuromuscular disease with trilaminar muscle fibres. Neurology. 1978; 28 282-289
- 13 Shy G M, Magee K R. A new congenital non-progressive myopathy. Brain. 1956; 79 610-618
- 14 Spiro A J, Shy G M, Gonatas N K. Myotubular myopathy. Archiv Neurol. 1966; 14 1-4
- 15 Tomé F MS, Leclerc A, Lopez N. et al . Childhood onset myopathy characterized by cytoplasmic and nuclear inclusions containing 16 - 18 nm tubulofilaments. Neurology. 1993; 43 201
A. Kamińska
Samodzielny Publiczny Centralny Szpital Kliniczny w Warszawie · Katedra I Klinika Neurologi
ul. Banacha 1 a
02 - 097 Warsawa
Poland
Email: amkam@amwaw.edu.pl