Jeune-Tommasi-Freycon-Nivelon syndrome
| Classification according to ICD-10 | |
|---|---|
| H90 | Hearing loss due to conductive or sensory sound disorder |
| R27.0 | Ataxia, unspecified |
| ICD-10 online (WHO version 2019) | |
The Jeune-Tommasi-Freycon-Nivelon syndrome is a very rare congenital disease with a combination of deafness , cerebellar ataxia and oligophrenia .
Synonyms are: English Cerebellar ataxia associated with deafness
The name refers to the authors of the first description from 1963 by the French pediatricians Matis Jeune (1910–1983), M. Tommasi , F. Freycon and JL Nivelon .
Clinical manifestations
Clinical criteria are:
- Short stature
- Oligophrenia
- Bilateral progressive inner ear hearing loss
- Cerebellar disorders with ataxia, intention tremor and dysarthria
- Atrophy of the small hand muscles, decreased patellar tendon reflex
- strongly increased tendency to caries
- Pigmentation disorders of the skin
- Hepatomegaly , cardiomegaly
Web links
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ M. Jeune, M. Tommasi, F. Freycon, JN Nivelon: Syndrome familiale associant ataxie, surdité et elogophrénie, sclérose myocardique d'évolution fatale chez l'un des enfants. In: Pédiatrie , Vol. 18, 1963, pp. 984-987
