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Aicardi syndrome
Background
Aicardi syndrome is a very rare neurological condition that occurs because of a congenital (present at birth) abnormality during brain development. It only occurs in girls as it is lethal to male babies and thought they are lost as a miscarriage. The exact cause is unknown; it is probably due to a gene defect on the X chromosome.
Aicardi syndrome is characterised by underdevelopment or absence of the development the corpus callosum, (the structure that links the two halves of the brain together), infantile spasms and an abnormality to the structure and appearance of the retina of the eyes. In addition, other structures within the brain can also be abnormal. This can result in a variety of types of brain cyst and/or abnormal structure within areas of grey or white matter of the brain (polymicrigyria/heterotopias).
