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)

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.

References

  • 1 Cape C A, Johnson W W, Pitner S E. Nemaline structures in polymyositis.  Neurology. 1970;  20 494-502
  • 2 Fukunaga H, Osame M, Igata A. A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities.  J Neurol Sci. 1980;  46 169-177
  • 3 Jungbluth H, Sewry C A, Muntoni F. What's new in neuromuscular disorders? The congenital myopathies.  Eur J Paediatr Neurol. 2003;  7 23-30
  • 4 Kirby D M, Crawford M, Cleary M A, Dahl H-HM, Dennet X, Thorburn D R. Respiratory chain complex I deficiency. An underdiagnosed energy generation disorder.  Neurology. 1999;  52 1255-1264
  • 5 Kirby D M, Salemi R, Sugiana C. et al . NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.  J Clin Invest. 2004;  in press
  • 6 Kornfeld M. Mixed nemaline-mitochondrial “myopathy”.  Acta Neuropathol. 1980;  51 185-189
  • 7 Oldfors A, Tulinius M. Mitochondrial encephalomyopathies.  J Neuropath Exp Neurol. 2003;  62 217-227
  • 8 Osame M, Kawabuchi M, Igata A, Sugita H. Changes at the neuromuscular junctions in the affected muscles of neostigmine-treated rats, tenotomized rats and a patient with nemaline myopathy.  Acta Histochem Cytochem. 1977;  10 70-80
  • 9 Oya Y, Segawa M, Ogawa M, Goto Y, Nonaka I, Kawai M. Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report.  Rinsho Shinkeigaku. 2000;  40 452-458 (in Japanese)
  • 10 Pourmand R, Azzarelli B. Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria.  Muscle Nerve. 1994;  17 1218-1220
  • 11 Reimann J, Kunz W S, Veilhaber S, Kappes-Horn K, Schroder R. Mitochondrial dysfunction in myofibrillar myopathy.  Neuropathol Appl Neurobiol. 2003;  29 45-51
  • 12 Rustin P, Chretien D, Bourgeron T. et al . Biochemical and molecular investigations in respiratory chain deficiencies.  Clin Chim Acta. 1994;  228 35-51
  • 13 Schroder R, Kunz W S, Rouan F. et al . Disorganisation of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.  J Neuropathol Exp Neurol. 2002;  61 520-530
  • 14 Shapira Y A, Yarom R, Blank A. Nemaline myopathy and a mitochondrial neuromuscular disorder in the one family.  Neuropediatrics. 1981;  12 152-165
  • 15 Yamamoto M, Koga Y, Ohtaki E, Nonaka I. Focal cytochrome c oxidase deficiency in various neuromuscular diseases.  J Neurol Sci. 1989;  91 207-213

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

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