Corpus callosum agenesis

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 corpus callosum agenesis ( bar agenesis ) is a congenital malformation of the brain , which is characterized by the fact that the connection between the right and left hemispheres, the corpus callosum , is missing or severely underdeveloped. The nerve fibers that normally make up the beam run lengthways within each hemisphere and form a structure called a Probst bundle .

Usually there is also colpozephaly .

In partial corpus callosum agenesis, only part of the bar is missing. If, on the other hand, the bar was surgically severed, it is not a case of a corpus callosum agenesis, but a split brain .

frequency

As a rule, corpus callosum agenesis occurs sporadically, but the occasional occurrence in siblings indicates an involvement of genetic factors ( X-chromosomal or autosomal recessive inheritance ) and it is assumed here that 10% of the siblings are responsible for traits. In general, the incidence is 3: 1,000 to 7: 1,000.

diagnosis

Corpus callosum agenesis is congenital and manifests itself in early childhood. A prenatal diagnosis is possible. In more than 70  syndromes , bar agenesis is one of the typical features (= syndromatic corpus callosum agenesis ). Four out of 50 children have a chromosome peculiarity: very often peculiarities in the area of chromosomes 8 , 13 or 18 can be found here, such as Patau syndrome ( trisomy 13 ), Edwards syndrome ( trisomy 18 ) or triploidy . Bar deficiency was also sometimes found in people with chromosome aberrations of chromosome 3.

forecast

The range of possible development of children with corpus callosum agenesis is quite wide. It depends, among other things, on whether the malformation is present individually or whether it is a characteristic of a special disability , which in turn is accompanied by other symptoms that influence development. Depending on the situation, the development prognosis for children with bar agenesis ranges from a largely lacking special symptomatology to severe physical and cognitive disabilities (possibly also with epilepsy , ataxia or disruption of thermoregulation, for example ).

In the context of syndromes

With several syndromes, a bar deficiency can occur with:

• Delleman Syndrome
• Edwards Syndrome
• Greig syndrome
• L1CAM syndrome
• Microdeletion Syndrome 21q22
• Miller-Dieker Syndrome
• Patau syndrome
• Polymicrogyria with optic nerve hypoplasia
• Septo-optic dysplasia
• Smith-Lemli-Opitz syndrome
• XLAG syndrome
• Vici syndrome

Web links

• Children with lack of beams

Individual evidence

1. ^ AJ Barkovich, D. Norman: Anomalies of the corpus callosum: correlation with further anomalies of the brain. In: American Journal of Roentgenology . Vol. 151, No. 1, July 1988, pp. 171-179, doi: 10.2214 / ajr.151.1.171 , PMID 3259802 .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !