Aicardi syndrome
| Classification according to ICD-10 | |
|---|---|
| Q04.0 | Congenital malformations of the corpus callosum Agenesis of the corpus callosum |
| ICD-10 online (WHO version 2019) | |
The Aicardi Syndrome is probably X-linked , dominant inherited congenital malformation with changes in the brain , the eyes and the fuselage skeleton, the ribs and spine . It was described for the first time in 1969 by the French neurologist Jean Aicardi and defined as the triad of bar deficiency , chorioretinal lacunae and BNS attacks (West syndrome). In the meantime, the presence of two of these criteria is referred to as Aicardi syndrome, if there are other typical disease findings. The change in the brain is characterized by a pronounced corpus callosum agenesis , a malformation of the bar between the halves of the brain , usually with colpozephaly . Benign tumors of the choroid plexus, so-called plexus papilloma , occur more frequently. The changes in the eye are mainly malformations of the retina (chorioretinal lacunae) and colobomas . Changes in the trunk skeleton are scolioses , often with vertebral malformations (fusions, segmentation disorders) and rib anomalies.
With around one case per 100,000 born (almost exclusively in girls: gynecotropia ), the disease is a rare disease . There is presumably a mutation on the X chromosome that is usually fatal in male fetuses because they only have one X chromosome. A mutation that sufficiently explains the disease has not yet been identified.
Children with Aicardi syndrome usually lag significantly behind in cognitive and motor development. They show muscle cramps ( myoclonus ) and epileptic seizures (such as West syndrome ) at an early stage . Life expectancy is considered to be significantly limited. The course of the disease is very different, however, only mentally mild or even not at all affected children are known.
The Aicardi-Goutières syndrome is an entirely different hereditary brain development disorder.
literature
- Tena Rosser: Aicardi syndrome . In: Archives of Neurology . tape 60 , no. 10 , 2003, ISSN 0003-9942 , p. 1471–1473 , doi : 10.1001 / archneur.60.10.1471 , PMID 14568821 .
Individual evidence
- ^ Jean Aicardi: Aicardi syndrome . In: Brain and Development . tape 27 , no. 3 , April 2005, ISSN 0387-7604 , p. 164-171 , doi : 10.1016 / j.braindev.2003.11.011 .
- ↑ Barbara L. Kroner, Liliana R. Preiss, Mary-Anne Ardini, William D. Gaillard: New Incidence, Prevalence, and Survival of Aicardi Syndrome From 408 Cases . In: Journal of Child Neurology . tape 23 , no. 5 , 2008, ISSN 0883-0738 , p. 531-535 , doi : 10.1177 / 0883073807309782 .
- ↑ Bibiana KY Wong, V. Reid Sutton: Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination . In: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics . tape 178 , no. 4 , December 2018, ISSN 1552-4876 , p. 423-431 , doi : 10.1002 / ajmg.c.31658 , PMID 30536540 .
- ↑ L. Palmér, B. Zetterlund, A.-L. Hård, K. Steneryd, M. Kyllerman: Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002 . In: Neuropediatrics . tape 38 , no. 4 , August 2007, ISSN 0174-304X , p. 188-192 , doi : 10.1055 / s-2007-991146 , PMID 18058626 .
