Richards-Rundle Syndrome
| Classification according to ICD-10 | |
|---|---|
| G60.2 | Neuropathy associated with hereditary ataxia |
| ICD-10 online (WHO version 2019) | |
The Richards-Rundle syndrome is a very rare congenital disease with the main features related to the cerebellum ataxia , numbness , hypogonadotropic hypogonadism and mental retardation .
Synonyms are: familial ataxia-hypogonadism syndrome; english Ketoaciduria-intellectual disability-ataxia-deafness syndrome
The name refers to the authors of the first description from 1959 by the English doctors B. W. Richards and AT Rundle .
Spread and cause
The frequency and cause are not known, the inheritance is autosomal - recessive .
Clinical manifestations
Clinical criteria are:
- Onset of illness in early childhood
- Increasing ataxia , pronounced limbs
- Muscle hypotension , delayed start to run
- Hyporeflexia to later areflexia
- Horizontal nystagmus
- increasing hearing loss to deafness
- Mental retardation after normal development during the first two years of life
- Hypogenitalism (Leidig hypogonadism, primary amenorrhea )
- Hypogonadotropic hypogenitalism
- Kyphoscoliosis , arches foot , clubfoot
- Atrophy of the small hand muscles
pathology
There is a systemic atrophy of the olivar nucleus and cerebellum with degeneration of nerve tracts of the medulla oblongata , pons , spinal muscles and involvement of peripheral nerves .
literature
- P. Fehlow, F. Walther: Richards-Rundle syndrome. In: Clinical Pediatrics. Vol. 203, No. 3, 1991 May-Jun, pp. 184-186, doi: 10.1055 / s-2007-1025427 , PMID 1857055 .
- M. Franceschi, F. Parmigiani, P. Zamproni, G. Cairoli, N. Canal: Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family. In: Journal of neurology. Vol. 231, No. 1, 1984, pp. 11-13, PMID 6425460 .
Individual evidence
- ↑ a b c 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 .
- ↑ a b Richards-Rundle syndrome. In: Orphanet (Rare Disease Database).
- ^ BW Richards, AT, Rundle: A familial hormonal disorder associated with mental deficiency, deaf mutism and ataxia. In: Journal of Mental Deficiency Research . Vol. 3, 1959, pp. 33-55.
- ↑ Richards-Rundle syndrome. In: Online Mendelian Inheritance in Man . (English)
