
#REDIRECT Aicardi syndrome
Aicardi syndrome is a congenital disorder thought to result from an abnormality of the X chromosome and characterized by absence of the corpus callosum, retinal abnormalities, and seizures (often infantile spasms). == History == It was first described by Jean Aicardi, a France neurologist in 1965. == Epidemiology == There are about 500 cases worldwide, almost all of them in females, because it is thought to be lethal in otherwise genetically normal males. It has been identified in males with Klinefelter syndrome, who have an extra X chromosome. == Pathophysiology == == Features == Children are most commonly identified with Aicardi Syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development. Prognosis varies widely, though all experience developmental delays of some degree, typically moderate to severe mental retardation. == Diagnosis == Aicardi syndrome is characterized by the following "markers": # Absence of the corpus callosum, either partial or complete. # Infantile spasms # Lesions or "lacunae" of the retina of the eye that are very specific to this disorder # Other types of defects of the brain such as microcephaly, enlarged ventricles, or porencephalic cysts == Treatment == Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. == Prognosis == The known age range of affected children is from birth to the mid 20’s. Congenital genetic disorders Neurology Eponymous diseases
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Words begining with Aicardi_Syndrome:
Aicardi_Syndrome
Aicardi_syndrome
Aicardi Syndrome
#REDIRECT Aicardi syndrome
Aicardi syndrome
Aicardi syndrome is a congenital disorder thought to result from an abnormality of the X chromosome and characterized by absence of the corpus callosum, retinal abnormalities, and seizures (often infantile spasms). == History == It was first described by Jean Aicardi, a France neurologist in 1965. == Epidemiology == There are about 500 cases worldwide, almost all of them in females, because it is thought to be lethal in otherwise genetically normal males. It has been identified in males with Klinefelter syndrome, who have an extra X chromosome. == Pathophysiology == == Features == Children are most commonly identified with Aicardi Syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development. Prognosis varies widely, though all experience developmental delays of some degree, typically moderate to severe mental retardation. == Diagnosis == Aicardi syndrome is characterized by the following "markers": # Absence of the corpus callosum, either partial or complete. # Infantile spasms # Lesions or "lacunae" of the retina of the eye that are very specific to this disorder # Other types of defects of the brain such as microcephaly, enlarged ventricles, or porencephalic cysts == Treatment == Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. == Prognosis == The known age range of affected children is from birth to the mid 20’s. Congenital genetic disorders Neurology Eponymous diseases
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A
AB | AC | AD | AE | AF | AG | AH | AI | AJ | AK | AL | AM | AN | AO | AP | AR | AS | AT | AU | AW | AX | AY | AZ |Words begining with Aicardi_Syndrome:
Aicardi_Syndrome
Aicardi_syndrome
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