Hostname: page-component-78c5997874-dh8gc Total loading time: 0 Render date: 2024-11-05T11:34:30.886Z Has data issue: false hasContentIssue false
  • English
  • Français

Neonatal Myotubular Myopathy: Neuropathy and Failure of Postnatal Maturation of Fetal Muscle

Published online by Cambridge University Press:  18 September 2015

Harvey B. Sarnat ,
Sanford I. Roth  and
Jorge F. Jimenez
Harvey B. Sarnat*
Affiliation:
Departments of Paediatrics (Neurology) and Pathology, University of Calgary Faculty of Medicine, Calgary, Alberta, and the Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, U.S.A.
Sanford I. Roth
Affiliation:
Departments of Paediatrics (Neurology) and Pathology, University of Calgary Faculty of Medicine, Calgary, Alberta, and the Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, U.S.A.
Jorge F. Jimenez
Affiliation:
Departments of Paediatrics (Neurology) and Pathology, University of Calgary Faculty of Medicine, Calgary, Alberta, and the Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, U.S.A.
*
Alberta Children’s Hospital, 1820 Richmond Road, Calgary, Alberta T2T 5C7
Rights & Permissions [Opens in a new window]

Summary:

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 natural course of the pathologic features in striated muscle was studied in a full-term infant with myotubular myopathy. At 5 days of age a muscle biopsy revealed that more than 90 percent of muscle fibers fulfilled histologic, histochemical and electron microscopic criteria of fetal myotubes. The infant died unexpectedly at 9 months of age from spontaneous rupture of a multifocal cavernous hemangioma of the liver. Postmortem examination revealed that progressive maturation of the fetal muscle had not occurred postnatally, and more than 90 percent of myofibers were still apparent myotubes. This maturational arrest was generalized to all striated muscles. The only changes detected since the neonatal period were hypertrophy of the small population of large fibers, but with minor cytoarchitectural alterations, and loss of the incomplete histochemical differentiation with ATPase stains or dedifferentiation not attributed to postmortem diffusion. Involvement of the gubernaculum testis accounted for the undescended testicles. The brain and spinal cord appeared normal. Evidence of degenerating and regenerating axons in the sciatic nerve suggested that the etiology of this maturational arrest of fetal muscle may be neurogenic.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 8 , Issue 4 , November 1981 , pp. 313 - 320
Copyright
Copyright © Canadian Neurological Sciences Federation 1981

References

Barth, P.G., Van Wijngaarden, G.K., Bethlem, J., (1975). X-linked myotubular myopathy with fatal neonatal asphyxia. Neurology 25, 531–536.CrossRefGoogle ScholarPubMed
Bethlem, J., Van Wijngaarden, G.K., Meuer, A.E.F.H., (1969). Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures. Neurology 19, 705–710.CrossRefGoogle ScholarPubMed
Campbell, M.J., Rebeiz, J.J., Walton, J.N., (1969). Myotubular, centronuclear or pericentronuclear myopathy? J. Neurol. Sci. 8, 425–443.Google ScholarPubMed
Coërs, C., Telerman-Toppet, N., Gerard, J.M., Szliwowski, H., Bethlem, J., Van Wijngaarden, G.K., (1976). Changes in motor innervation and histochemical pattern of muscle fibers in some congenital myopathies. Neurology 26, 1046–1053.CrossRefGoogle ScholarPubMed
Drachman, D.B., Farbrough, D.M., (1976). Are muscle fibers denervated in myotonic dystrophy? Arch. Neurol. 33, 485–488.CrossRefGoogle ScholarPubMed
Elder, G.B., Dean, D., Mccomas, A.J., Paes, B., Desa, D., (1981). Infantile centronuclear myopathy. Evidence suggesting incomplete innervation, in pressGoogle Scholar
Engel, W.K., Karpati, G., (1968). Impaired skeletal muscle maturation following neonatal neurectomy. Devel. Biol. 17, 713–723.CrossRefGoogle ScholarPubMed
Engel, W.K., Gold, G.N., Karpati, G., (1968). Type 1 fiber hypotrophy and central nuclei. Arch. Neurol. 18, 435–444.Google Scholar
Ilina, N.A., Averyanov, U.N., Potomskaya, L.Z., Ivanchenko, O.V., Biryukov, V.B., (1979). X-linked myotubular myopathy. Zh. Nevropatol Psikhiatr Im. S.S. Korsakova 79, 1334–1338 (in Russian).Google Scholar
Karpati, G., Carpenter, S., (1976). Maturational arrest. Arch. Neurol. 33, 847 (letter).CrossRefGoogle ScholarPubMed
Sarnat, H.B., Sarnat, M.S., (1982). Muscle diseases in the newborn, in: Pediatrics Update, 4th ed., Stern, L., ed, Elsevier North-Holland, Publ. Co., N.Y., in pressGoogle Scholar
Sarnat, H.B., Silbert, S.W., (1976). Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases. Arch. Neurol. 33, 466–474.CrossRefGoogle ScholarPubMed
Zimmerman, P., Weber, V., (1979). Familial centronuclear myopathy: a haploid DNA disease? Acta. Neuropathol. 46, 209–214.CrossRefGoogle Scholar