Congenital hypereplexia
| Classification according to ICD-10 | |
|---|---|
| G25.8 | hereditary hypereplexia |
| ICD-10 online (WHO version 2019) | |
The congenital Hyperekplexia (syn. Stiff baby syndrome ) is a rare inherited genetic disorder ( autosomal -dominant or -rezessiv inherited), the (tactile and acoustic stimuli are inadequately answered) in neurological symptoms manifested. To a cot death prevention, prompt diagnosis (including delineation of epilepsy) and the rapid initiation of appropriate treatment are necessary. The syndrome was first described in 1958.
root cause
Congenital hyperekplexia is a mostly autosomal dominant disorder with a mutation in the glycine receptor (GLR). Both the alpha subunit (GLRA1) and the beta subunit (GLRB) of the receptor are affected. There are still numerous mutation variants, including autosomal recessive forms. 5q32-35 and 4q31-3 were identified as locations in the genome.
Clinical manifestations
Immediately after birth, there is hypertension of the skeletal muscles (up to rigidity, hence the English name Stiff Baby Syndrome ). In addition, there is an increased Moro reflex . In addition, acoustic or tactile stimuli lead to spasmodic tension of the muscles, which can also lead to life-threatening situations with apnea in newborns .
The symptoms subside with increasing age, for example in the case of sudden fright, however, even in adulthood, a corresponding muscle stiffness (stiff man) can occur while consciousness is maintained at the same time.
treatment
The treatment is carried out using clonazepam . However, drugs used to treat epilepsy can make symptoms worse.
Literature and individual references
- GLRA1
- SK Chung, et al .: Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. In: The Journal of neuroscience: the official journal of the Society for Neuroscience. Volume 30, Number 28, July 2010, pp. 9612-9620, ISSN 1529-2401 . doi : 10.1523 / JNEUROSCI.1763-10.2010 . PMID 20631190 .
- ↑ Lentze MJ, ea: Pediatrics: Basics and Practice , Springer, 2002, p. 1482, ISBN 3540436286
- ↑ a b c Witkowski R., ea.a: Lexicon of Syndromes and Malformations: Causes, Genetics, Risks , Springer, 2003, p. 573, ISBN 3540443053 , here online
- ^ CP Panayiotopoulos: A Clinical Guide to Epileptic Syndromes and their Treatment . Springer Science & Business Media, May 10, 2010, ISBN 978-1-84628-644-5 , p. 113.
