Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family

M. Franceschi, F. Parmigiani, P. Zamproni, G. Cairoli, N. Canal

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impaired insulin secretion. Cochleovestibular investigation of the sibship revealed in each subject more or less severe forms of bulbo-pontine cochleovestibular dysfunction. Three members of the same sibship had cutaneous signs of abortive forms of neurofibromatosis: the son of one of these subjects had a severe form of fully developed neurofibromatosis. Whether there is a pathogenetic linkage between the hereditary multisystemic degeneration (RRS), the dysembryopathy (neurofibromatosis) and the cochleovestibular dysfunction in this family is still not clear.

Original languageEnglish
Pages (from-to)11-13
Number of pages3
JournalJournal of Neurology
Volume231
Issue number1
DOIs
Publication statusPublished - Feb 1984

Fingerprint

Neurofibromatoses
Hypogonadism
Alopecia
Ataxia
Hearing Loss
Insulin
Skin
Richards-Rundle syndrome

Keywords

  • Cochleovestibular dysfunction
  • Neurofibromatosis
  • Richards-Rundle syndrome

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Franceschi, M., Parmigiani, F., Zamproni, P., Cairoli, G., & Canal, N. (1984). Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family. Journal of Neurology, 231(1), 11-13. https://doi.org/10.1007/BF00313645

Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family. / Franceschi, M.; Parmigiani, F.; Zamproni, P.; Cairoli, G.; Canal, N.

In: Journal of Neurology, Vol. 231, No. 1, 02.1984, p. 11-13.

Research output: Contribution to journalArticle

Franceschi, M, Parmigiani, F, Zamproni, P, Cairoli, G & Canal, N 1984, 'Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family', Journal of Neurology, vol. 231, no. 1, pp. 11-13. https://doi.org/10.1007/BF00313645
Franceschi, M. ; Parmigiani, F. ; Zamproni, P. ; Cairoli, G. ; Canal, N. / Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family. In: Journal of Neurology. 1984 ; Vol. 231, No. 1. pp. 11-13.
@article{2017988d93bc4367be1f7047f12b8cd7,
title = "Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family",
abstract = "The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impaired insulin secretion. Cochleovestibular investigation of the sibship revealed in each subject more or less severe forms of bulbo-pontine cochleovestibular dysfunction. Three members of the same sibship had cutaneous signs of abortive forms of neurofibromatosis: the son of one of these subjects had a severe form of fully developed neurofibromatosis. Whether there is a pathogenetic linkage between the hereditary multisystemic degeneration (RRS), the dysembryopathy (neurofibromatosis) and the cochleovestibular dysfunction in this family is still not clear.",
keywords = "Cochleovestibular dysfunction, Neurofibromatosis, Richards-Rundle syndrome",
author = "M. Franceschi and F. Parmigiani and P. Zamproni and G. Cairoli and N. Canal",
year = "1984",
month = "2",
doi = "10.1007/BF00313645",
language = "English",
volume = "231",
pages = "11--13",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Dr. Dietrich Steinkopff Verlag GmbH and Co. KG",
number = "1",

}

TY - JOUR

T1 - Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family

AU - Franceschi, M.

AU - Parmigiani, F.

AU - Zamproni, P.

AU - Cairoli, G.

AU - Canal, N.

PY - 1984/2

Y1 - 1984/2

N2 - The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impaired insulin secretion. Cochleovestibular investigation of the sibship revealed in each subject more or less severe forms of bulbo-pontine cochleovestibular dysfunction. Three members of the same sibship had cutaneous signs of abortive forms of neurofibromatosis: the son of one of these subjects had a severe form of fully developed neurofibromatosis. Whether there is a pathogenetic linkage between the hereditary multisystemic degeneration (RRS), the dysembryopathy (neurofibromatosis) and the cochleovestibular dysfunction in this family is still not clear.

AB - The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impaired insulin secretion. Cochleovestibular investigation of the sibship revealed in each subject more or less severe forms of bulbo-pontine cochleovestibular dysfunction. Three members of the same sibship had cutaneous signs of abortive forms of neurofibromatosis: the son of one of these subjects had a severe form of fully developed neurofibromatosis. Whether there is a pathogenetic linkage between the hereditary multisystemic degeneration (RRS), the dysembryopathy (neurofibromatosis) and the cochleovestibular dysfunction in this family is still not clear.

KW - Cochleovestibular dysfunction

KW - Neurofibromatosis

KW - Richards-Rundle syndrome

UR - http://www.scopus.com/inward/record.url?scp=0021349729&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021349729&partnerID=8YFLogxK

U2 - 10.1007/BF00313645

DO - 10.1007/BF00313645

M3 - Article

VL - 231

SP - 11

EP - 13

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 1

ER -