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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).
The males (all infants) had partial corpus callosum agenesis, severe intellectual disabilities, developmental delays, and epilepsy. The disorder first manifested right after birth, with recurrent seizures occurring hours after it. Out of these 5 babies, 3 had died. Post-mortem examination of one of the dead infants revealed chemical and ...
The patient usually has a history of alcohol use disorder or malnutrition and neurological symptoms are sometimes present and can help lead to a diagnosis. MBD can be told apart from other neural diseases due to the symmetry of the lesions in the corpus callosum as well as the fact that these lesions don't affect the upper and lower edges. [4]
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.
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 ...
By contrast, anomia is a deficit of expressive language, and a symptom of all forms of aphasia, but patients whose primary deficit is word retrieval are diagnosed with anomic aphasia. [2] Individuals with aphasia who display anomia can often describe an object in detail and maybe even use hand gestures to demonstrate how the object is used, but ...
Some patients do not show most of the symptoms related to colpocephaly, such as psychomotor abnormalities and agenesis of the corpus callosum. In some cases, signs appear later on in life and a significant number of children only develop minor disabilities. The following list includes common symptoms of colpocephaly. [3] [4] [5]
Split-brain or callosal syndrome is a type of disconnection syndrome when the corpus callosum connecting the two hemispheres of the brain is severed to some degree. It is an association of symptoms produced by disruption of, or interference with, the connection between the hemispheres of the brain.