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.
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.
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Rowlatt, U. Cockayne's syndrome. Acta Neuropathol 14, 52–61 (1969). https://doi.org/10.1007/BF00687702
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DOI: https://doi.org/10.1007/BF00687702