RARA ASSOCIAZIONE DI SCLEROSI TUBEROSA DI BOURNEVILLE ED OFTALMOPLEGIA ESTERNA PROGRESSIVA

Translated title of the contribution: An unusual association of Bourneville's disease and ophthalmoplegia externa progressiva

G. Gemme, E. Bonioli, G. Ruffa, P. Patrone, F. Cardillo Piccolino

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageItalian
Pages (from-to)339-344
Number of pages6
JournalMinerva Pediatrica
Volume31
Issue number5
Publication statusPublished - 1979

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Ophthalmoplegia
Tuberous Sclerosis
Fibroadenoma
Fructose-Bisphosphate Aldolase
Fibroma
Eyelids
Pupil
Transaminases
Light
Skin
Serum

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Gemme, G., Bonioli, E., Ruffa, G., Patrone, P., & Cardillo Piccolino, F. (1979). RARA ASSOCIAZIONE DI SCLEROSI TUBEROSA DI BOURNEVILLE ED OFTALMOPLEGIA ESTERNA PROGRESSIVA. Minerva Pediatrica, 31(5), 339-344.

RARA ASSOCIAZIONE DI SCLEROSI TUBEROSA DI BOURNEVILLE ED OFTALMOPLEGIA ESTERNA PROGRESSIVA. / Gemme, G.; Bonioli, E.; Ruffa, G.; Patrone, P.; Cardillo Piccolino, F.

In: Minerva Pediatrica, Vol. 31, No. 5, 1979, p. 339-344.

Research output: Contribution to journalArticle

Gemme, G, Bonioli, E, Ruffa, G, Patrone, P & Cardillo Piccolino, F 1979, 'RARA ASSOCIAZIONE DI SCLEROSI TUBEROSA DI BOURNEVILLE ED OFTALMOPLEGIA ESTERNA PROGRESSIVA', Minerva Pediatrica, vol. 31, no. 5, pp. 339-344.
Gemme G, Bonioli E, Ruffa G, Patrone P, Cardillo Piccolino F. RARA ASSOCIAZIONE DI SCLEROSI TUBEROSA DI BOURNEVILLE ED OFTALMOPLEGIA ESTERNA PROGRESSIVA. Minerva Pediatrica. 1979;31(5):339-344.
Gemme, G. ; Bonioli, E. ; Ruffa, G. ; Patrone, P. ; Cardillo Piccolino, F. / RARA ASSOCIAZIONE DI SCLEROSI TUBEROSA DI BOURNEVILLE ED OFTALMOPLEGIA ESTERNA PROGRESSIVA. In: Minerva Pediatrica. 1979 ; Vol. 31, No. 5. pp. 339-344.
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