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Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease and KCC3 axonopathy among other names, [1] is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus callosum. [1] [2] [3 ...
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain , in the embryo is disrupted.
X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. [2] Only 13 cases (all male) have been described in medical literature. [3] Transmission is X-linked recessive. [4]
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
Dejerine in 1892 described specific symptoms resulting from a lesion to the corpus callosum that caused alexia without agraphia. The patient had a lesion in the left occipital lobe, blocking sight in the right visual field , and in the splenium of the corpus callosum. Dejerine interpreted this case as a disconnection of the speech area in the ...
The symptoms of refractory (difficult to treat) epilepsy can be reduced by cutting through the corpus callosum in an operation known as a corpus callosotomy lobotomy paralysis. [28] This is usually reserved for cases in which complex or grand mal seizures are produced by an epileptogenic focus on one side of the brain, causing an ...
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. [2] Other malformations of the brain and skeleton may also occur.
A wide variety of symptoms are potential clinical features of ciliopathy. The signs most exclusive to a ciliopathy, in descending order of exclusivity, are: [8]: 138 Dandy–Walker malformation (cerebellar vermis hypoplasia, usually with hydrocephalus) Agenesis of the corpus callosum; Situs inversus; Posterior encephalocele; Polycystic kidneys