[Diagnosis of Spielmayer-Vogt disease. Electron microscopy of conjunctival biopsy].
The authors describe ultrastructural changes in conjunctival specimens from five patients with Spielmeyer-Vogt-Batten's disease. Four of the specimens contained lysosomal "fingerprint-bodies", regarded as a specific lesion for this disease. When the biochemical defect remains unknown, the recognition of these ultrastructural changes is a valuable diagnostic tool to supplement clinical and electrophysiological examinations.
Haugen
O H
OH
Oyeavdelingen, Haukeland sykehus, Bergen.
Seland
J H
JH
Sommerfelt
K
K
Waaler
P E
PE
D001706:Biopsy; D002648:Child; D003228:Conjunctiva / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology*
Diagnostikk av Spielmeyer-Vogts sykdom. Elektronmikroskopi av konjunktivalbiopsi.