Acta Neuropathologica

, Volume 14, Issue 1, pp 52–61 | Cite as

Cockayne's syndrome

Report of case with necropsy findings
  • Ursula Rowlatt
Original Investigations

Summary

The clinical and necropsy findings have been described in an 11 year old girl with classical Cockayne's syndrome which consists of microcephaly, dwarfism, bird facies, mental deficiency, retinal pigmentation, deafness, large hands and feet, and a thick skull with a small pituitary fossa. The disease, as is usual, appeared after a normal first year of life and was characterized by initial mental and physical retardation followed by progressive deterioration. The most striking neuropathological findings were marked atrophy of white matter, patchy demyelination of residual fibres in cerebrum, cerebellum, brain stem and spinal cord, fine deposition of calcium in the cerebral and cerebellar cortical ribbon and coarse focal calcification of the basal ganglia. The most likely cause of this rare condition is probably an inherited genetic defect involving several germ layers.

Key-Words

Cockayne's Disease Dwarfism Pelizaeus-Merzbacher Disease Calcium Deposition Microcephaly 

Zusammenfassung

Klinisch-autoptischer Fallbericht eines 11 jährigen Mädchens mit klasischem Cockayne-Syndrom, bestehend aus Mikrocephalie, Zwergwuchs, Vogelgesicht, psychischer Retardierung, Retinitis pigmentosa, Taubheit, großen Händen und Füßen sowie dickem Schädel mit kleiner Fossa hypophyseos. Wie üblich, setzte die Erkrankung nach regelrechter Frühentwicklung ein. Sie war durch initiale psychische und physische Retardierung mit späterer progressiver Demenz gekennzeichnet. Die wesentlichen neuropathologischen Befunde waren deutliche Atrophie des Markes, fleckige Entmarkung der verbliebenen Fasern in Groß- und Kleinhirn, Hirnstamm und Rückenmark, zarte Kalkablagerungen im Rindenband des Groß- und Kleinhirns sowie grobe fokale Verkalkungen in den Stammganglien. Die wahrscheinlichste Ursache dieser seltenen Erkrankung ist ein angeborener genetischer Defekt, der verschiedene Keimblätter betrifft.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Civantos, F.: Human chromosomal abnormalities. Bull. Tulane med. Fac.20, 241–253 (1961).Google Scholar
  2. Cockayne, E. A.: Dwarfism with retinal atrophy and deafness. Arch. Dis. Childh.11, 1–8 (1936).Google Scholar
  3. —: Dwarfism with retinal atrophy and deafness. Arch. Dis. Childh.21, 52–54 (1946).Google Scholar
  4. Cullen, M., andH. Mora: Sindrome de Cockayne. Arch. argent. Pediat.55, 16–21 (1961).Google Scholar
  5. Daughaday, W. H., andM. L. Parker: The pituitary in disorders of growth. DM (Chic.)95, 31 (1962).Google Scholar
  6. Gellis, S. S.: Cockayne's syndrome: Heredofamilial disorder of growth and development. In: The Year Book of Pediatrics, pp. 468–471. Chicago: Year Book Medical Publishers 1961–1962.Google Scholar
  7. Horanyi-Hechst, B., andA. Meyer: Diffuse sclerosis with preserved myelin islands. J. ment. Sci.85, 22–28 (1939).Google Scholar
  8. Jervis, G. A.: Microcephaly with extensive calcium deposits and demyelination. J. Neuropath. exp. Neurol.13, 318–328 (1954).Google Scholar
  9. Keay, A. J., M. F. Oliver, andG. S. Boyd: Progeria and atherosclerosis. Arch. Dis. Childh.30, 410–414 (1955).Google Scholar
  10. Lieberman, W. J., R. A. Schimer, andC. H. Snyder: Cockayne's disease. Amer. J. Ophthal.52, 116–118 (1961).Google Scholar
  11. MacDonald, W. B., K. D. Fitch, andI. C. Lewis: Cockayne's syndrome. An heredo-familial disordor of growth and development. Pediatrics25, 997–1007 (1960).Google Scholar
  12. Mcintyre, C. A., andH. W. Brown: Twins with cachectic dwarfism. J. Pediat.67, 1204 to 1206 (1965).Google Scholar
  13. Mann, T. P., andA. Russell: Study of a microcephalic midget of extreme type. Proc. roy. Soc. Med.52, 1024–1027 (1959).Google Scholar
  14. Marie, J., B. Lévêque, J. C. Hesse etJ. Buri: Nanisme avec rétinite pigmentaire et surdité. Syndrome de Cockayne. Sem. Hôp. Paris34, 2808–2812 (1958).Google Scholar
  15. Moossy, J.: The neuropathology of Cockayne's syndrome. J. Neuropath. exp. Neurol.26, 654–660 (1967).Google Scholar
  16. Neill, C. A., andM. M. Dingwall: A syndrome resembling progeria: A review of two cases. Arch. Dis. Childh.25, 213–223 (1950).Google Scholar
  17. Norman, R. M.: Malformations of the nervous system, birth injury and diseases of early life. In:Greenfield's Neuropathology, p. 350, 2nd edit. London: E. Arnold 1963a.Google Scholar
  18. Norman, R. M.: Neuropathological aspects of the lipoidoses and the leucodystrophies. Proc. 2nd int. Congr. ment. Retard., Vienna 1961, part 1, pp. 97–110 (1963b).Google Scholar
  19. —, andA. H. Tingey: Sudanophil leucodystrophy and Pelizaeus-Merzbacher disease. In: Brain lipids and lipoproteins, and the leucodystrophies.Folchi-Pi, J., andH. J. Bauer ed. Amsterdam-London-New York: Elservier Publishing Company 1963.Google Scholar
  20. —, andH. Urich: The influence of a vascular factor on the distribution of symmetrical cerebral calcifications. J. Neurol. Neurosurg. Psychiat.23, 142–147 (1960).Google Scholar
  21. Ohno, T., andM. Hirooka: Renal lesions in Cockayne's syndrome. Tohoku J. exp. Med.89, 151–166 (1966).Google Scholar
  22. Paddison, R. M., J. Moossy, V. J. Derbes, andW. Kloepeer: Cockayne's syndrome. Derm. Trop.2, 195–203 (1963).Google Scholar
  23. Seckel, H. P. G.: Bird-headed dwarfs. Basel-New York: S. Karger 1960.Google Scholar
  24. Spark, H.: Cachectic dwarfism resembling the Cockayne-Neill type. J. Pediat.66, 41–47 (1965).Google Scholar
  25. Suwa, S.: Low birth weight dwarfism. Jap. J. Pediat.17, 878–890. Cited byOhno andHirooka (1964).Google Scholar
  26. Uesugi, M., O. Nakagawa, andT. Uesugi: A case regarded as Cockayne's syndrome. J. clin. Ophthal. (Tokyo)4, 1777–1785 (1960).Google Scholar
  27. Upjohn, C.: Familial dwarfism associated with microcephaly, mental retardation and anaemia. Proc. roy. Soc. Med.48, 334–335 (1955).Google Scholar
  28. Wilkins, L.: The diagnosis and treatment of endocrine disorders in childhood and adolescence, 3rd edit. Springfield, Ill.: Ch. C. Thomas 1965.Google Scholar
  29. Windmiller, J., P. J. Whalley, andC. W. Fink: Cockayne's syndrome with chromosomal analysis. Amer. J. Dis. Childh.105, 204–208 (1963).Google Scholar

Copyright information

© Springer-Verlag 1969

Authors and Affiliations

  • Ursula Rowlatt
    • 1
    • 2
  1. 1.Department of Morbid Anatomy and HistologyCentral Middlesex HospitalLondonEngland
  2. 2.Lincoln Park Zoological GardensChicagoUSA

Personalised recommendations