Aicardi Syndrome - Causes, Symptoms and Treatment
Aicardi syndrome is a genetic disorder caused due to gene mutations and is mainly found in females. The male version of this disorder is very rare and lethal.
What is Aicardi syndrome?
It is a genetic disorder in which the corpus callosum (the key structure/part that joins the two sides of the brain) is either incomplete or completely absent and problems like retinal abnormalities and seizure (infantile spasms or jerking) are developed. Aicardi syndrome is also considered to be caused due to problems with X chromosome and is common in people who have inherited X-linked dominant mutant gene related problems.
The syndrome was first studied and described by a French neurologist Dr. Aicardi. One notable fact about this syndrome is that it mainly occurs in females and very rarely in males, except for those with Klinefelter syndrome.
Causes
As mentioned above, Aicardi syndrome is a genetic disorder and is thought to be related to abnormalities involved with X-chromosomes. X-linked dominant mutant genes are considered to be the main reason for the development of this syndrome in infants. Other clinical causes of this syndrome are still unknown and are subject of research for many scientists across the world.
Symptoms
Generally the symptoms related to this syndrome start surfacing when the child is 3 to 6 months of age. Seizures in the form of infantile spasms (also known as jerking) are among the first symptoms of Aicardi syndrome.
The other symptoms of this syndrome include lesions/lacunae on the retina or optic nerve leading to limitations in visual ability causing blindness in children, abnormally developed ribs or spinal cords, mental retardation due to developmental delay, micropthalmia (underdeveloped/smaller eye), abnormally and unequally developed halves of the brain (porencephalic cysts), skeletal structure development abnormalities in some cases which leads to inability to walk or move, development of embryonic soft tissue carcinoma, angiosarcoma and hepatoblastoma etc. and focal motor seizure, development of hemi and fused vertebrates, scoliosis, hypotonia, spasticity etc.
Diagnosis
Earlier, Electroencephalogram (EEG) was used to diagnose the condition, but it has been witnessed that EEG results cannot be reliably used.
Onset of seizures in the form of jerks (infantile spasms) in children is studied and further observations are carried out in order to confirm the disorder. Unfortunately, it is very hard in the initial stage (when the child is just 3 to 6 months of age) and can be confirmed only when the child grows older. The three main symptoms: partially developed or absent corpus callosum in the brain, eye abnormalities, and seizures are used to diagnose the disease; physical examination at certain extent and medical imaging such as CT scan, MRI scan, Ultrasound scan etc. are used to confirm these symptoms.
Treatment
As the syndrome starts with seizures in children, management of seizures with the help of medication is the first step. Further, other symptoms are treated in order to help the child live a normal life. Delayed development of the child is managed with the help of various therapies involving special mental activities, physical and occupational therapies etc.
Along with treating the symptoms, treatment for the complications caused due to Aicardi syndrome is also very important. Shunt and endoscopic fenestration of cysts are used to treat porencephalic cysts and hydrocephalus etc., surgeries and use of support equipment are also used.
It is a genetic disorder in which the corpus callosum (the key structure/part that joins the two sides of the brain) is either incomplete or completely absent and problems like retinal abnormalities and seizure (infantile spasms or jerking) are developed. Aicardi syndrome is also considered to be caused due to problems with X chromosome and is common in people who have inherited X-linked dominant mutant gene related problems.
The syndrome was first studied and described by a French neurologist Dr. Aicardi. One notable fact about this syndrome is that it mainly occurs in females and very rarely in males, except for those with Klinefelter syndrome.
Causes
As mentioned above, Aicardi syndrome is a genetic disorder and is thought to be related to abnormalities involved with X-chromosomes. X-linked dominant mutant genes are considered to be the main reason for the development of this syndrome in infants. Other clinical causes of this syndrome are still unknown and are subject of research for many scientists across the world.
Symptoms
Generally the symptoms related to this syndrome start surfacing when the child is 3 to 6 months of age. Seizures in the form of infantile spasms (also known as jerking) are among the first symptoms of Aicardi syndrome.
The other symptoms of this syndrome include lesions/lacunae on the retina or optic nerve leading to limitations in visual ability causing blindness in children, abnormally developed ribs or spinal cords, mental retardation due to developmental delay, micropthalmia (underdeveloped/smaller eye), abnormally and unequally developed halves of the brain (porencephalic cysts), skeletal structure development abnormalities in some cases which leads to inability to walk or move, development of embryonic soft tissue carcinoma, angiosarcoma and hepatoblastoma etc. and focal motor seizure, development of hemi and fused vertebrates, scoliosis, hypotonia, spasticity etc.
Diagnosis
Earlier, Electroencephalogram (EEG) was used to diagnose the condition, but it has been witnessed that EEG results cannot be reliably used.
Onset of seizures in the form of jerks (infantile spasms) in children is studied and further observations are carried out in order to confirm the disorder. Unfortunately, it is very hard in the initial stage (when the child is just 3 to 6 months of age) and can be confirmed only when the child grows older. The three main symptoms: partially developed or absent corpus callosum in the brain, eye abnormalities, and seizures are used to diagnose the disease; physical examination at certain extent and medical imaging such as CT scan, MRI scan, Ultrasound scan etc. are used to confirm these symptoms.
Treatment
As the syndrome starts with seizures in children, management of seizures with the help of medication is the first step. Further, other symptoms are treated in order to help the child live a normal life. Delayed development of the child is managed with the help of various therapies involving special mental activities, physical and occupational therapies etc.
Along with treating the symptoms, treatment for the complications caused due to Aicardi syndrome is also very important. Shunt and endoscopic fenestration of cysts are used to treat porencephalic cysts and hydrocephalus etc., surgeries and use of support equipment are also used.
Like This Article?
Follow:
Post Comment