Nyssen-van-Bogaert syndrome
| Classification according to ICD-10 | |
|---|---|
| G11.1 | Early onset of cerebellar ataxia |
| ICD-10 online (WHO version 2019) | |
The Nyssen van Bogaert syndrome is a very rare congenital neurodegenerative disease with the main features of an atrophy of various cranial nerve nuclei .
Synonyms are: pigmented form of orthochromatic leukodystrophy; Latin Atrophia optico-cochleo-dentata Nyssen-van-Bogaert ; Dentatus-Optic-Cochlear Atrophy; French Dégénérescence optico-cochléo-dentelée
The name refers to the first authors of the first description from 1934 by the Dutch neurologist Réne Nyssen (1891–1972) and the Belgian neuropathologist Ludo van Bogaert (1897–1989).
The disease is counted among the hereditary ataxias, viewed as a pigmented form of orthochromatic leukodystrophy or assigned to the multiple systemic atrophies.
The term may not be used consistently.
pathology
This is due to atrophy of the dentate nucleus , the optic nerve and the cochlear nucleus .
Clinical manifestations
Clinical criteria are:
- Onset of illness usually before the age of 15
- Neurodegeneration with muscular dystonia, muscle hypotonia -to-atonia, later rigidity and spasticity
- Reduction of statomotor skills
- Loss of vision due to optic atrophy and external ophthalmoplegia
- Hearing loss
- Intelligence and language degradation
Differential diagnosis
Hereditary forms of spinocerebelial ataxia must be distinguished .
Individual evidence
- ↑ a b c d 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 .
- ↑ Who named it
- ^ R. Nyssen, L. van Bogaert: La dégénérescence systématisée optico-cochléo-dentelée. In: Revue neurologique , Paris, 1934, Vol. 2, pp. 321-345.
- ↑ JC Möller, IH Sünkeler, WH Oertel, HD Mennel: The pigmented form of orthochromatic leukodystrophy. In: The neurologist. Vol. 74, No. 12, December 2003, pp. 1127-1133, doi: 10.1007 / s00115-003-1585-3 , PMID 14647915 .
- ↑ A. Larnaout, M. Ben Hamida, F. Hentati: A clinicopathological observation of Nyssen-van Bogaert syndrome with second motor neuron degeneration: two distinct clinical entities. In: Acta Neurologica Scandinavica. Vol. 98, No. 6, December 1998, pp. 452-457, PMID 9875626 .
