Hostname: page-component-cd9895bd7-fscjk Total loading time: 0 Render date: 2024-12-28T03:03:38.519Z Has data issue: false hasContentIssue false
  • English
  • Français

Fatal Nemaline Myopathy in Infancy

Published online by Cambridge University Press:  18 September 2015

Joseph B. McMenamin ,
Bernadette Curry ,
Glen P. Taylor ,
Laurence E. Becker  and
E. Gordon Murphy
Joseph B. McMenamin
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
Bernadette Curry
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
Glen P. Taylor
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
Laurence E. Becker
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
E. Gordon Murphy*
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
*
Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8
Rights & Permissions [Opens in a new window]

Abstract:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue 2 , May 1984 , pp. 305 - 309
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

References

Bender, AN. (1980) In: Vinken, PJ., Bruyn, GW. (eds) Handbook of Clinical Neurology Vol. 41, Part 2. Diseases of Muscle, New York, Elsevier, pp. 1–26.Google Scholar
Brooke, MH. (1977) A clinicians view of neuromuscular diseases. Williams and Wilkins p. 209.Google Scholar
Conen, PE.Murphy, EG., Donohue, WL. (1963) Light and electron microscopic studies of “myogranules” in a child with hypotonia and muscle weakness. Can. Med. Assoc. J. 9: 983.Google Scholar
Dahl, DS.Klatzow, FW. (1974) Congenital rod disease. Furtherevidence of innervation abnormalities as the basis for the clinicopathological features. J. Neurol. Sci. 23: 371.CrossRefGoogle Scholar
Dubowitz, V. (1978) Muscle disorders in childhood. London, W.B. Saunders.Google ScholarPubMed
Eeg-Olofsson, O.Henriksson, KG., Thornell, LE., Wesstrom, G. (1983) Early infant death in nemaline (rod) myopathy. Brain Dev. 5: 53.CrossRefGoogle ScholarPubMed
Engel, WK. (1970) Selective and non-selective susceptibility of muscle fiber types. Arch. Neurol. 22: 97.CrossRefGoogle Scholar
Gillies, C.Raye, J., Vasan, R., Hart, WE., Goldblatt, PJ. (1979) Nemaline (rod) myopathy. Arch. Pathol. Lab. Med. 103: 1.Google ScholarPubMed
Gutrecht, JA.Dyck, PJ. (1970) Quantitative teased-fibre and histological studies of human sural nerve during postnatal development. J. Comp. Neurol. 138: 117.CrossRefGoogle Scholar
Harper, PS. (1975) Congenital myotonic dystrophy in Britain 1. clinical aspects. Arch. Dis. Child 50: 505.CrossRefGoogle Scholar
Jennekens, FGI.Roord, JJ., Veldman, H., Willemse, J., Joskusch, BM. (1983) Congenital nemaline myopathy. 1. Defective organization of alpha-actinin is restricted to muscle. Muscle & Nerve 6: 61.CrossRefGoogle Scholar
Karpati, LG.Carpenter, S., Andermann, F. (1971) A new concept of childhood nemaline myopathy. Arch. Neurol. 24: 291.CrossRefGoogle ScholarPubMed
Kolin, IS. (1967) Nemaline myopathy: A fatal case. Amer. J. Dis. Child 114: 95.CrossRefGoogle Scholar
Kondo, K.Yuasa, T. (1980) Genetics of congenital nemaline myopathy. Muscle & Nerve 3: 308.CrossRefGoogle ScholarPubMed
Matsuo, T.Tashiro, T., Ikeda, T., Tsujihata, M., Shimomura, C. (1982) Fatal neonatal nemaline myopathy. Acta Pathol. Jpn. 32: 907.Google ScholarPubMed
McComb, RD.Markesbery, WR., O’Connor, WN. (1979) Fatal neonatal nemaline myopathy with multiple congenital anomalies. J. Petiatr. 94: 47.Google ScholarPubMed
McMenamin, JB.Becker, LE., Murphy, EG. (1982) Congenital muscular dystrophy, a clinicopathological report of 24 cases. J. Pediatr. 5: 692.CrossRefGoogle Scholar
Neustein, HB. (1973) Nemaline myopathy: A family study with three autopsied cases. Arch. Pathol. 96: 192.Google ScholarPubMed
Norton, P.Ellison, P., Suliaman, AR., Harb, J. (1983) Nemaline myopathy in the neonate. Neurology 33: 351.CrossRefGoogle ScholarPubMed
Origuchi, Y. (1981) Quantitative histological study in the sural nerves of children. Brain Dev. 3: 395.CrossRefGoogle ScholarPubMed
Price, HM.Gordon, GB., Pearson, CM., Munsat, TL., Blumberg, TM. (1965) New evidence for excessive accumulation of Z-band material in nemaline myopathy. Proc. Natl. Acad. Sci. (USA) 54: 1398.CrossRefGoogle ScholarPubMed
Sachis, PN.Armstrong, DL., Becker, LE., Byran, AC. (1982) Myelination of the human vagus nerve from 24 weeks post-conceptional age to adolescence. J. Neuropath. Exp. Neurol. 41: 466.CrossRefGoogle Scholar
Shafiq, SA.Dubowitz, V., Peterson, H de C., Milhorat, AT. (1967) Nemaline myopathy: Report of a fatal case, with histochemical and electron microscopic studies. Brain 90: 817.CrossRefGoogle ScholarPubMed
Shy, GM.Engel, WK.Sommers, JE., Wanko, T. (1963) Nemaline myopathy, a new congenital myopathy. Brain 86: 793.CrossRefGoogle ScholarPubMed
Volpe, JJ. (1981) Neurology of the Newborn. Philadelphiam, W.B. Saunders p. 468.Google ScholarPubMed
Yamaguchi, M.Robson, RM., Stromer, MH., Dahl, DS., Uda, T. (1978) Actin filaments form the backbone of nemaline myopathy rods. Nature 271: 265.CrossRefGoogle ScholarPubMed