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Diagnostic Value of the Muscle Biopsy in the Neonatal Period

Diagnostic Value of the Muscle Biopsy in the Neonatal Period Abstract • Muscle biopsy specimens of 20 full-term neonates (13 surgical and seven necropsy specimens) with clinical evidence of neuromuscular disease were studied to determine the diagnostic usefulness of this procedure in the newborn. Characteristic pathologic alterations were identified in specific diseases. Some findings were similar to those seen later in life, but others differed from those expected in the same diseases at older ages. Persistence of fetal muscle cells was a characteristic common to several congenital myopathies and neuropathies. Lymphocytic infiltrates, muscle fiber necrosis, and architectural alterations of the muscle fibers were not seen at birth. Extramedullary hematopoiesis may involve newborn muscle. Muscle biopsy is a safe and simple procedure in the neonatal period and has a diagnostic reliability as good as at older ages, but histochemistry and sometimes electron microscopy are essential supplements to classical histology for interpretation. Recommended indications for muscle biopsy in the neonatal period are multiple joint contractures at birth or hypotonia and weakness, of unknown origin. (Am J Dis Child 132:782-785, 1978) References 1. Sarnat HB, Case ME, Graviss R: Sacral agenesis: Neurologic and neuropathologic features . Neurology 26:1124-1129, 1976.Crossref 2. Emery AEH: Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy . Nature 266:472-473, 1977.Crossref 3. Mahoney MJ, Haseltine FP, Hobbins JC, et al: Prenatal diagnosis of Duchenne's muscular dystrophy . N Engl J Med 297:968-973, 1977.Crossref 4. Karpati G, Carpenter S, Watters GV: Infantile myotonic dystrophy: Histochemical and electron microscopic features in skeletal muscle . Neurology 23:1066-1077, 1973.Crossref 5. Farkas E, Tomé FMS, Fardeau M, et al: Histochemical and ultrastructural study of muscle biopsies in three cases of dystrophia myotonica in the newborn child . J Neurol Sci 21:273-288, 1974.Crossref 6. Sarnat HB, Silbert SW: Maturational arrest of fetal muscle in neonatal myotonic dystrophy . Arch Neurol 33:446-474, 1976. 7. Spiro AJ, Shy GM, Gonatas NK: Myotubular myopathy . Arch Neurol 14:1-14, 1966.Crossref 8. Raju TNK, Vidyasagar D, Reyes MG, et al: Centronuclear myopathy in newborn period causing severe respiratory distress . Pediatrics 59:29-34, 1977. 9. Barth PG, van Wijngaarden GK, Bethlem J: X-linked myotubular myopathy with fatal neonatal asphyxia . Neurology 25:531-536, 1975.Crossref 10. Brooke MH: Congenital fiber type dysproportion , in Kakulas BA (ed): Clinical Studies in Myology . Amsterdam, Excerpta Medica, 1973, pt 2, pp 147-159. 11. Fardeau M, Harpey J-P, Caille B, et al: Hypotonies néo-natales avec disproportion congenitale des differentes types de fibre musculaire et petitesse relative des fibres de type I . Arch Fr Pediatr 32:901-914, 1975. 12. Bethlem J, van Wijngaarden GK, Meijer AEFH, et al: Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures . Neurology 19:705-710, 1969.Crossref 13. Engel WK, Gold GN, Karpati G: Type I fiber hypotrophy and central nuclei: A rare congenital muscle abnormality with a possible experimental model . Arch Neurol 18:435-444, 1968.Crossref 14. Karpati G, Carpenter S, Nelson RF: Type I muscle fiber atrophy and central nuclei: A rare familial neuromuscular disease . J Neurol Sci 10:489-500, 1970.Crossref 15. Gubbay SS, Walton JN, Pearce GW: Clinical and pathological study of a case of congenital muscular dystrophy . J Neurol Neurosurg Psychiatry 29:500-508, 1966.Crossref 16. Zellweger H, Afifi A, McCormick WF, et al: Severe congenital muscular dystrophy . Am J Dis Child 114:591-602, 1967. 17. Short JK: Congenital muscular dystrophy . Neurology 13:526-530, 1973.Crossref 18. Fowler M, Manson JI: Congenital muscular dystrophy with malformations in the central nervous system , in: Kakulas BA (ed): Clinical Studies in Myology . Amsterdam, Excerpta Medica, 1973, pt 2, pp 192-197. 19. Kamoshita S, Konishi Y, Segawa M, et al: Congenital muscular dystrophy as a disease of the central nervous system . Arch Neurol 33:513-516, 1976.Crossref 20. Sarnat HB: Neuromuscular disorders in the neonatal period , in Korobkin R, Guilleminault C (eds): Advances in Perinatal Neurology , to be published. 21. Curless RG, Nelson MB: Needle biopsies of muscle in infants for diagnosis and research . Dev Med Child Neurol 17:592-601, 1975.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Diagnostic Value of the Muscle Biopsy in the Neonatal Period

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1978.02120330054014
Publisher site
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Abstract

Abstract • Muscle biopsy specimens of 20 full-term neonates (13 surgical and seven necropsy specimens) with clinical evidence of neuromuscular disease were studied to determine the diagnostic usefulness of this procedure in the newborn. Characteristic pathologic alterations were identified in specific diseases. Some findings were similar to those seen later in life, but others differed from those expected in the same diseases at older ages. Persistence of fetal muscle cells was a characteristic common to several congenital myopathies and neuropathies. Lymphocytic infiltrates, muscle fiber necrosis, and architectural alterations of the muscle fibers were not seen at birth. Extramedullary hematopoiesis may involve newborn muscle. Muscle biopsy is a safe and simple procedure in the neonatal period and has a diagnostic reliability as good as at older ages, but histochemistry and sometimes electron microscopy are essential supplements to classical histology for interpretation. Recommended indications for muscle biopsy in the neonatal period are multiple joint contractures at birth or hypotonia and weakness, of unknown origin. (Am J Dis Child 132:782-785, 1978) References 1. Sarnat HB, Case ME, Graviss R: Sacral agenesis: Neurologic and neuropathologic features . Neurology 26:1124-1129, 1976.Crossref 2. Emery AEH: Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy . Nature 266:472-473, 1977.Crossref 3. Mahoney MJ, Haseltine FP, Hobbins JC, et al: Prenatal diagnosis of Duchenne's muscular dystrophy . N Engl J Med 297:968-973, 1977.Crossref 4. Karpati G, Carpenter S, Watters GV: Infantile myotonic dystrophy: Histochemical and electron microscopic features in skeletal muscle . Neurology 23:1066-1077, 1973.Crossref 5. Farkas E, Tomé FMS, Fardeau M, et al: Histochemical and ultrastructural study of muscle biopsies in three cases of dystrophia myotonica in the newborn child . J Neurol Sci 21:273-288, 1974.Crossref 6. Sarnat HB, Silbert SW: Maturational arrest of fetal muscle in neonatal myotonic dystrophy . Arch Neurol 33:446-474, 1976. 7. Spiro AJ, Shy GM, Gonatas NK: Myotubular myopathy . Arch Neurol 14:1-14, 1966.Crossref 8. Raju TNK, Vidyasagar D, Reyes MG, et al: Centronuclear myopathy in newborn period causing severe respiratory distress . Pediatrics 59:29-34, 1977. 9. Barth PG, van Wijngaarden GK, Bethlem J: X-linked myotubular myopathy with fatal neonatal asphyxia . Neurology 25:531-536, 1975.Crossref 10. Brooke MH: Congenital fiber type dysproportion , in Kakulas BA (ed): Clinical Studies in Myology . Amsterdam, Excerpta Medica, 1973, pt 2, pp 147-159. 11. Fardeau M, Harpey J-P, Caille B, et al: Hypotonies néo-natales avec disproportion congenitale des differentes types de fibre musculaire et petitesse relative des fibres de type I . Arch Fr Pediatr 32:901-914, 1975. 12. Bethlem J, van Wijngaarden GK, Meijer AEFH, et al: Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures . Neurology 19:705-710, 1969.Crossref 13. Engel WK, Gold GN, Karpati G: Type I fiber hypotrophy and central nuclei: A rare congenital muscle abnormality with a possible experimental model . Arch Neurol 18:435-444, 1968.Crossref 14. Karpati G, Carpenter S, Nelson RF: Type I muscle fiber atrophy and central nuclei: A rare familial neuromuscular disease . J Neurol Sci 10:489-500, 1970.Crossref 15. Gubbay SS, Walton JN, Pearce GW: Clinical and pathological study of a case of congenital muscular dystrophy . J Neurol Neurosurg Psychiatry 29:500-508, 1966.Crossref 16. Zellweger H, Afifi A, McCormick WF, et al: Severe congenital muscular dystrophy . Am J Dis Child 114:591-602, 1967. 17. Short JK: Congenital muscular dystrophy . Neurology 13:526-530, 1973.Crossref 18. Fowler M, Manson JI: Congenital muscular dystrophy with malformations in the central nervous system , in: Kakulas BA (ed): Clinical Studies in Myology . Amsterdam, Excerpta Medica, 1973, pt 2, pp 192-197. 19. Kamoshita S, Konishi Y, Segawa M, et al: Congenital muscular dystrophy as a disease of the central nervous system . Arch Neurol 33:513-516, 1976.Crossref 20. Sarnat HB: Neuromuscular disorders in the neonatal period , in Korobkin R, Guilleminault C (eds): Advances in Perinatal Neurology , to be published. 21. Curless RG, Nelson MB: Needle biopsies of muscle in infants for diagnosis and research . Dev Med Child Neurol 17:592-601, 1975.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Aug 1, 1978

References