An association of Bourneville's disease and Fuchs-Kiloh-Nevin ophthalmoplegia externa progressiva is reported. Bourneville's disease was diagnosed from the presence of Pringle type fibroadenoma on the face, typo- and hyperchromic skin blotches and fibromas, endocranial calcifications, and retinal phacoma, while ophthalmoplegia was indicated by palpebral ptosis and progressive alterations of extrinsic ocular motility, normal pupil response to light, the histological picture and EMG findings, and normal serum CPK, aldolase, transaminases and LDH. Assessment of the currrent state of knowledge concerning the genetic, embryological, and anatomopathological features of these two forms suggests that they are not related etiopathogenetically.
|Translated title of the contribution||An unusual association of Bourneville's disease and ophthalmoplegia externa progressiva|
|Number of pages||6|
|Publication status||Published - 1979|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health