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Neuropediatrics 1980; 11(4): 388-392
DOI: 10.1055/s-2008-1071406
© Georg Thieme Verlag KG Stuttgart · New York

RECTAL BIOPSY FINDINGS IN INFANTILE NEUROAXONAL DYSTROPHY

H. H. Goebel1 , A.  Kohlschütter2 , F. J. Schulte3
  • 1Division of Neuropathology, University of Göttingen, Robert-Koch-Str. 40, D-3400 Göttingen, W.-Germany
  • 2Dept. of Pediatrics, University of Göttingen, Humboldtallee 38, D-3400 Göttingen, W.-Germany
  • 3University Children's Clinic Hamburg-Eppendorf, Martinistr. 52, D-2000 Hamburg 20, W.-Germany
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Publikationsdatum:
19. März 2008 (online)

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Abstract

A 21-month-old boy with a family history of parental consanguinity and two siblings having died of a progressive neurological disorder was investigated for a neurometabolic disease because of recent loss of gait and lack of intellectual progress. While a lysosomal disease could not be verified, his clinical findings were compatible with infantile neuroaxonal dystrophy, the diagnosis of which was electron microscopically established by demonstrating typical enlarged axonal terminals in rectal biopsy tissue.

Key words

Neuroaxonal dystrophy - rectal biopsy - ultrastructure - spheroids