ZIB

Treffer pro Seite

Treffer 1 - 1 | 1 Treffer

Sortierung

Digitale Medien

Autopsy findings in two siblings with infantile Refsum disease (1992)

Chow, C. W. ; Poulos, A. ; Fellenberg, A. J. ; [weitere]

Springer

Acta neuropathologica 83 (1992), S. 190-195

zur Merkliste hinzufügen auf der Merkliste

Details

ISSN: 1432-0533

Schlagwort(e): Sisters ; Adrenal atrophy ; Cirrhosis ; Ectopic Purkinje cells ; Young age at death

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Summary Recognition of adrenal atrophy during a review of autopsy findings in two sisters who died at 8 months and 3 1/2 years prompted estimation of very long chain fatty acids, phytanic acid and pristanic acid on wet liver fixed in formalin for 12 years. These were shown to be markedly increased and defects in multiple peroxisomal functions and decrease in particulate catalase were shown in cultured fibroblasts, confirming an abnormality of peroxisomal biogenesis. The patients had presented with failure to thrive, recurrent diarrohea and vomiting, poor mental development, retinal pigmentation, blindness and in the older patient deafness, with only mild dysmorphic features. Autopsy in the older patient showed adrenal atrophy, cirrhosis, and foamy histiocytes in multiple organs. The brain showed no demyelination, little cytoarchitectural abnormality, occasional perivascular histiocytes in the grey matter and meninges and prominent Purkinje cells in the molecular layer of the cerebellum. In the younger patient the changes were very subtle in spite of the marked clinical similarity. Despite the young age at death the clinicopathological features are most suggestive of infantile Refsum disease. In many situations anatomical pathology can be very useful in the recognition and study of peroxisomal disorders.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00308478

Permalink

Bibliothek	Standort	Signatur	Band/Heft/Jahr	Verfügbarkeit

Andere fanden auch interessant ...

Artikel (Nationallizenzen)

Volltext

Treffer 1 - 1 | 1 Treffer