Neuropediatrics 2005; 36(1): 35-39
DOI: 10.1055/s-2004-830531
Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Congenital Myopathy with Tubular Aggregates and Tubulofilamentous IBM-Type Inclusions

A. Fidziańska1 , A. Kamińska1 , 2 , B. Ryniewicz2
  • 1Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
  • 2Department of Neurology, Medical University in Warsaw, Warsaw, Poland
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Publikationsverlauf

Received: July 2, 2004

Accepted after Revision: November 12, 2004

Publikationsdatum:
09. Februar 2005 (online)

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Abstract

We report on a 16-year-old girl with a unique neuromuscular disorder characterised by progressive proximal muscle weakness and numerous tubular aggregates, intracytoplasmic, as well as intranuclear inclusions of the IBM type in her muscle biopsy. The clinical features of the presented case, as manifested by the early childhood onset of the disease, proximal weakness, lumbar hyperlordosis, and bilateral Achilles tendon contractures, were suggestive of congenital myopathy. To the best of our knowledge, the coexistence of tubular aggregates and tubulofilamentous inclusions of the IBM type in a child has never been described.

References

MD, PhD Anna Fidziańska

Neuromuscular Unit
Medical Research Centre
Polish Academy of Sciences

Pawińskiego 5

02-106 Warsaw

Poland

eMail: neurmyol@cmdik.pan.pl