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Neuropediatrics 2004; 35(5): 302-306
DOI: 10.1055/s-2004-821243
Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Nemaline Rods and Complex I Deficiency in Three Infants with Hypotonia, Motor Delay and Failure to Thrive

P. J. Lamont1 , D. R. Thorburn2 , V. Fabian3 , J. Vajsar4 , C. Hawkins5 , A. Saada (Reisch)6 , H. Durling3 , N. G. Laing3 , Y. Nevo7
  • 1Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, Western Australia
  • 2Murdoch Children's Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
  • 3Department of Pathology, Royal Perth Hospital, Perth, Western Australia
  • 4Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Canada
  • 5Department of Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Canada
  • 6Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
  • 7Institute for Child Development and Paediatric Neurology Unit, Tel Aviv Sourasky Medical Centre, Sackler Faculty of Medicine, Tel Aviv University, Israel
Further Information

Publication History

Received: January 27, 2004

Accepted after Revision: July 14, 2004

Publication Date:
08 November 2004 (online)

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Abstract

Three infants are described who had nemaline rods on muscle biopsy and isolated deficiency of complex I of the respiratory chain on biochemical analysis. They all manifested failure to thrive from birth, and hypotonia and muscle weakness within the first three months of life. Different genetic defects leading to isolated complex I deficiency have been described associated with a variety of morphological changes on muscle biopsy, but rods have not been described. Nemaline rods have been secondary phenomena in a number of conditions, as well as being the primary abnormality in nemaline myopathy. However, the combination of nemaline rods and complex I deficiency is an association not previously reported.

Key words

Complex I deficiency - nemaline rods - developmental delay

References

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Dr. P. J. Lamont

Neurogenetic Unit
Department of Neurology
Royal Perth Hospital

PO Box X2213

Perth

Western Australia 6847

Australia

Email: phillipa.lamont@health.wa.gov.au