Health & Care Information
Brain is the most important part of the body because it controls all of the body’s functions at every level and keeps everything in order. Every portion of the brain is vital in keeping the processes going.
The cerebellum is a tiny brainstem structure in the hindbrain that is in charge of motor control. The cerebellum is even further broken down into various sections, one of which is termed the cerebellar vermis, and is found in the medial region of the rear fossa of the skull, also known as the cortico-nuclear area.
A distinct cerebellar abnormality known as Rhombencephalosynapsis (RES) is defined by the merging of the cerebellar hemispheres and the partial or whole absence of a discernible cerebellar vermis. The unpaired section of the cerebellum that is located in the median region and links the two hemispheres is known as the vermis. Lobules, which are created by groups of folia, make up the vermis as well as the hemispheres of the cell.
The condition usually shows up in early childhood with delayed development, seizures, spasticity or hypotonia, and hydrocephalus. However, there are also certain cases of late diagnoses. MRI ( Magnetic resonance imaging ), which appears to be superior to ultrasound scan for the identification of rear fossa anatomy in children, is used more frequently to make diagnoses.
Some people get this disease because they present a genetic change in the MN1 gene. This condition is mostly seen in people with Gomez-Lopez-Hernandez syndrome (GLHS), and it is also been seen in people with an autism spectrum disorder. The extent of deformity or fusion is used to gauge the intensity of the condition, which also helps with both diagnosis and the selection of more effective treatments.
Rhombencephalosynapsis Symptoms
Most individuals with this illness possess no symptoms at all, which is quite dangerous. However, certain people mostly exhibit the following signs and symptoms:
- People with this disease show signs of mental retardation.
- Spasticity makes the muscles stiff in some places, which makes it hard to talk, walk, or do other physical things.
- Truncal ataxia is mild and does not influence mental abilities. Uneven steps, sudden stops, and long pauses are all signs of this disorder, which is caused by the trunk’s inability to support the body’s weight evenly. This is visible when sitting, walking with the toes pointed, or changing positions.
- Epilepsy is frequently seen as a symptom of this illness.
- Cerebral palsy manifests in early life, typically childhood, and is defined by motor abnormalities.
Rhombencephalosynapsis Causes
Rhombencephalosynapsis is an uncommon form of genetically based neurological illness. More specifically, mutations in the MN1 gene may result in cerebellar malformation, leading to the emergence or adoption of this condition.
Rhombencephalosynapsis Prognosis
The disease’s prognosis depends on how it affects the brain. People with the disease possess a normal IQ or none at all. They also present ataxia, dysarthria, nystagmus, strabismus, and/or behavioral problems, such as auto-aggressive and obsessive-impulsive disorders.
Rhombencephalosynapsis is an uncommon cerebellar disorder that is connected with secondary abnormalities affecting the brain and other parts of the body, as well as a bad prognosis. Fetal ultrasound imaging and MRI are used to detect the lesion during pregnancy, but because it is a rare lesion, a high index of clinical suspicion is needed.
Rhombencephalosynapsis Treatment
The rare neurological condition Rhombencephalosynapsis has no known effective treatment, making it a much worse scenario. Conditions like dementia, ataxia and low IQ severely restrict the quality of life for those who suffer from them.
However, in some circumstances, depending on the severity of the sickness, specialists prescribe surgery, which often provides some hope in an otherwise hopeless situation. In addition, patients receive symptomatic treatment, which focuses on relieving their distress by alleviating their symptoms.
GLHS(Gomez-Lopez-Hernandez syndrome) and autism spectrum disorder, respectively, are two associated or co-occurring diseases that can make it more difficult for patients and complicate disease management.
By giving patients symptomatic treatment, which involves treating the signs and symptoms, this condition is mostly controlled. It seems beneficial for those with this ailment, and it also raises their quality of life. There is no medication for this disease that can cure sufferers. Depending on the state of the disorder, surgical treatment is sometimes assumed to be an ideal solution.
