Summary
A dystrophic newborn girl (38th week of gestation) presented as a floppy infant with relapsing episodes of lactic acidosis and progressive cerebral deterioration. She died after serious apnoea at the age of 8 weeks. Neuropathological examination demonstrated widespread changes of Leigh's subacute polioencephalomyelopathy affecting the cerebral cortex, basal ganglia, mesencephalon and spinal cord. In addition, there was severe leukoencephalopathy of the cerebral hemispheres with sudanophilic tissue degregation, advanced axonal loss and reactive astrocytic gliosis. There was marked demyelination of the sciatic nerves. Electron-microscopical examination of the hypertrophic heart revealed pathological mitochondria with tubular inclusions suggestive of primary mitochondrial cardiomyopathy. Similar mitochondrial changes were not detected in the CNS and PNS. The complex of neuropathological alterations in this case is nevertheless consistent with a congenital variant of Leigh's disease.
Similar content being viewed by others
Explore related subjects
Discover the latest articles and news from researchers in related subjects, suggested using machine learning.References
Adachi M, Schneck L, Cara J, Volk BW (1973) Spongy degeneration of the central nervous system (van Bogaert and Bertrand type; Canavan's disease). A review. Human Pathol 4:331–347
Berthrong M, Sabiston DC (1951) Cerebral lesions in congenital heart disease. A review of autopsies on one hundred and sixty-two cases. Bull Johns Hopkins Hosp 89:384–406
Carleton CC, Collins GH, Schimpff RD (1976) Subacute necrotizing encephalopathy (Leigh's disease): Two unusual cases. South Med J 69:1301–1305
Castaigne P, Lhermitte F, Escourolle R, Chain F, Fardeau M, Hauw JJ, Curet J, Flavigny C (1977) Étude anatomo-clinique d'une observation d'“ophthalmoplégia plus” avec analyse des lésions musculaires, nerveuses centrales, oculaires, myocardiques et thyroidiennes. Rev Neurol (Paris) 133:369–386
Crosby TW, Chou SM (1974) “Ragged-red” fibers in Leigh's disease. Neurology 24:49–54
Crompton MR (1969) Spongiform subacute necrotizing encephalomyelopathy. Acta Neuropathol (Berl) 13:294–298
David RB, Mamunes P, Rosenblum WI (1976) Necrotizing encephalomyelopathy (Leigh). In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 28. North-Holland Publishing Company, Amsterdam, pp 349–363
Dayan AD, Ockenden BG, Crome L (1970) Necrotizing encephalomyelopathy of Leigh. Neuropathological findings in 8 cases. Arch Dis Child 45:39–48
Di Mauro S (1979) Mitochondrial myopathies. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 41. North-Holland Publishing Company, Amsterdam, pp 208–227
Dunn HG, Dolman CL (1972) Necrotizing encephalomyelopathy. Report of a case with manifestations resembling Behr's syndrome. Eur Neurol 7:34–55
Egger J, Lake BD, Wilson J (1981) Mitochondrial cytopathy. A multisystem disorder with ragged red fibers on muscle biopsy. Arch Dis Child 56:741–752
Egger J, Wynne-Williams CJE, Erdohazi M (1982) Mitochondrial cytopathy or Leigh's syndrome? Mitochondrial abnormalities in spongiform encephalopathies. Neuropediatrics 13:219–224
Exss R, Gulotta F, Kallfelz HC, Völpel M (1974) Wernicke's encephalopathy and cardiomyopathy in a boy with Friedreich's ataxia. Neuropediatrics 5:162–174
Farkas-Bargeton E, Goutières F, Richardet JM, Thieffry S, Brissaud HE (1971) Leucoencéphalopathie familiale associée à une acidose lactique congénitale. Acta Neuropathol (Berl) 17:156–168
Feigin I, Wolf A (1954) A disease in infants resembling chronic Wernicke's encephalopathy. J Pediatr 45:243–263
Feigin I, Kim HS (1977) Subacute necrotizing encephalomyelopathy in a neonatal infant. J Neuropathol Exp Neurol 36:364–372
Fowler M, Mellor G (1965) Cerebral malformation and degeneration produced in later foetal life by a primary cardiac anomaly. J Pathol 90:523–532
Ghatak NR, Hirano A, Poon TP, French JH (1972) Trichopoliodystrophy. II. Pathological changes in skeletal muscle and nervous system. Arch Neurol 26:60–72
Guazzi GC, Martin JJ, Brucher JM, Taper HS, Macken J, Neetens A, van Haegenborch J (1968) Sur l'importance de l'atteinte vasculaire et de la dystrophie gliale dans l'encéphalomyélopathie nécrosante de Leigh. Etude de deux familles et de trois observations anatomiques. J Neurol Sci 7:357–379
Kearns TP (1965) External ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy: a newly recognized syndrome. Trans Am Ophthalmol Soc 63:559–625
Langes K, Frenzel H, Seitz RJ, Kluitmann G (1984) Cardiomyopathy associated with Leigh's disease. (in preparation)
Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216–221
Lewis AJ (1965) Infantile subacute necrotizing encephalopathy. Can Med Assoc J 93:878–881
Monpetit VJA, Andermann F, Carpenter S, Fawcett JS, Zborowska-Sluis D, Giberson HR (1971) Subacute necrotizing encephalomyelopathy. A review and a study of two families. Brain 94:1–30
Namiki H (1965) Subacute necrotizing encephalomyelopathy. Arch Neurol 12:98–107
Pincus JH (1972) Subacute necrotizing encephalomyelopathy (Leigh's disease): A consideration of clinical features and etiology. Dev Med Child Neurol 14:87–101
Sandbank U, Lerman P (1972) Progressive cerebral poliodystrophy — Alpers' disease. Disorganized giant neuronal mitochondria on electron microscopy. J Neurol Neurosurg Psychiatry 35:749–755
Schneck L, Adachi M, Briet P, Wolnitz A, Volk BW (1973) Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue. J Neurol Sci 19:37–44
Shapira Y, Cederbaum SD, Cancilla PA, Nielsen D, Lippe BM (1975) Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Neurology 25:614–621
Solheid C, Stoupel N, Martin JJ (1971) La forme adulte à évolution chronique de l'encéphalopathie nécrosante de Leigh. Sa situation vis-à-vis des formes infanto-juvéniles. Acta Neurol Belg 71:282–295
Spurr AR (1969) A low-viscosity epoxy resin embedding medium for electron microscopy. J Ultrastruct Res 26:31–43
Terplan KL (1973) Patterns of brain damage in infants and children with congenital heart disease. Association with catheterization and surgical procedures. Am J Dis Child 125:175–185
Tom MI, Rewcastle NB (1962) Infantile subacute necrotizing encephalopathy. Neurology 12:624–628
Venable JH, Coggeshall R (1965) A simplified lead citrate stain for use in electron microscopy. J Cell Biol 25:407–408
Vuia O (1975) The cortical form of subacute necrotizing encephalopathy of the Leigh type. A light- and electronmicroscopic study. J Neurol Sci 26:295–304
Walter GF, Tassin S, Brucher JM (1981) Familial mitochondrial myopathies. Acta Neuropathol [Suppl] (Berl) 7:283–286
Walter GF (1983) Myoencephalopathies with abnormal mitochondria: A review. Clin Neuropathol 2:101–113
Weber T, Seitz RJ, Liebert UG, Gallasch E, Wechsler W (1984) Affinity cytochemical demonstration of vascular endothelial in brain tumors by biotinylated Ulex europaeus type I lectin. (in preparation)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Seitz, R.J., Langes, K., Frenzel, H. et al. Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy. Acta Neuropathol 64, 167–171 (1984). https://doi.org/10.1007/BF00695581
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00695581