Acta Neuropathologica

, Volume 24, Issue 2, pp 153–160 | Cite as

Progressive degeneration of the cerebral cortex in infancy

Report of a case
  • K. Skullerud
  • A. Torvik
  • L. Skaare-Botner
Original Investigations


The clinical and pathological features of a case with primary progressive degeneration of the cerebral cortex are presented. Two siblings had nearly identical clinical histories. All three children were born microcephalic and they died at the age of 7, 10 and 18 months, respectively. All showed progressive mental and motor deterioration. Myoclonus and attacks of opisthotonus were prominent features. Postmortem examination was performed in the third child, who died at the age of 10 months. The brain weight was 310 g. The cerebral cortex was severely atrophic, with extensive laminar neuronal loss. The cerebellum was normal. The optic tracts were atrophic. Neuronal loss was observed also in a few other systems but their relation to the primary disease is uncertain. The basal ganglia were normal and the hippocampus showed only slight nerve cell loss.

The case is considered to belong to a small group of cases with primary progressive cortical degeneration described by Laurence and Cavanagh (1968). This group should be distinguished from cases with secondary cortical degeneration caused by anoxic damage from recurrent epileptic attacks. The primary cortical degeneration may start shortly before birth, or after a brief periood of normal postnatal development. A positive family history has been reported in most cases, suggesting an inherited metabolic defect as cause of the disease.

Key words

Metabolic Encephalopathy Cerebral Degeneration Alpers' Disease 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Blackwood, W., Buxton, P. H., Cumings, J. N., Robertson, D. J., Tucker, S. M.: Diffuse cerebral degeneration in infancy (Alpers' disease). Arch. Dis. Childh.38, 193–204 (1963).Google Scholar
  2. Brun, A.: The subpial granular layer of the foetal cerebral cortex in man. Acta path. microbiol. scand., Suppl.179, 1–98 (1965).Google Scholar
  3. Christensen, E., Hőjgaard, K.: Poliodystrophia cerebri progressive infantilis. An entity? Acta neurol. scand.40, 21–40 (1964).Google Scholar
  4. Christensen, E., Krabbe, K.: Poliodystrophia cerebri progressive (infantilis). Arch. Neurol. Psychiat. (Chic.)61, 28–43 (1949).Google Scholar
  5. Jellinger, K., Seitelberger, F.: Spongy glio-neuronal dystrophy in infancy and childhood. Acta neuropath. (Berl.)16, 125–140 (1970).Google Scholar
  6. Kramer, W.: Poliodysplasia cerebri. Acta psychiat. scand.28, 413–427 (1953).Google Scholar
  7. Laurence, K. M., Cavanagh, J. B.: Progressive degeneration of the cerebral cortex in infancy. Brain91, 261–280 (1968).Google Scholar
  8. Norman, R. M.: Alpers' disease (poliodystrophia cerebri progressiva). In: Greenfield's Neuropathology, pp. 405–407. W. Blackwood, W. H. McMenemey, A. Meyer, R. M. Norman, and D. S. Russell, eds. London: Edw. Arnold 1963.Google Scholar
  9. Rusk, G. Y., Nixon, C. E.: Diffuse cortical sclerosis. A clinical and pathologic report of two cases. J. Lab. clin. Med.12, 644–660 (1927).Google Scholar
  10. Torvik, A.: Transneuronal changes in the inferior olive and the pontine nuclei in kittens. J. Neuropath. exp. Neurol.15, 119–145 (1956).Google Scholar
  11. Trumpy, J. H.: Transneuronal degeneration in the pontine nuclei of the cat. Ergebn. Anat. Entwickl. Gesch.44, 1–72 (1971).Google Scholar
  12. Ulrich, J., Cunz, A.: Die Alpersche Krankheit. Schweiz. Arch. Neurol. Psychiat.97, 297–303 (1966).Google Scholar
  13. Verhaart, W. J. C.: Progressive infantile cortical poliodystrophy. In: Pathology of the Nervous System, Vol. 2, pp. 1404–1410. J. Minckler, ed. New York: McGraw-Hill Book Co. 1971.Google Scholar
  14. Wolf, A., Cowen, D.: The cerebral atrophies and encephalomalacias of infancy and childhood. Ass. Res. nerv. Dis. Proc.34, 199–330 (1954).Google Scholar

Copyright information

© Springer-Verlag 1973

Authors and Affiliations

  • K. Skullerud
    • 1
    • 2
  • A. Torvik
    • 1
    • 2
  • L. Skaare-Botner
    • 1
    • 2
  1. 1.Laboratory of NeuropathologyUllevål HospitalOsloNorway
  2. 2.Pediatric DepartmentStavanger HospitalStavangerNorway

Personalised recommendations