Diagnostic approach to Aicardi syndrome: A case report

Aicardi syndrome – case report and literature review

“…Aicardi syndrome is a genetic disorder reported in the great majority of cases in females [6,23]. There are hypotheses that this disease is caused by a de novo dominant X-linked genetic mutation, and the inactivation of the X chromosome has been correlated with the severity of the phenotype [2,6,23,40].…”

“…Aicardi syndrome is a genetic disorder reported in the great majority of cases in females [6,23]. There are hypotheses that this disease is caused by a de novo dominant X-linked genetic mutation, and the inactivation of the X chromosome has been correlated with the severity of the phenotype [2,6,23,40]. Nonetheless, several cases of males with the 47, XXY karyotype and some males with the 46, XY karyotype who have a characteristic presentation of this syndrome have been described [2,4,5].…”

“…Nonetheless, several cases of males with the 47, XXY karyotype and some males with the 46, XY karyotype who have a characteristic presentation of this syndrome have been described [2,4,5]. A mutation in a male (XY) whose X chromosome is single and homozygous is almost always lethal [1,6,7]. Some theories say that 46, XY male cases are low-level mosaics for 47, XXY, but this has not been confirmed by research [1,2,3].…”

“…Some theories say that 46, XY male cases are low-level mosaics for 47, XXY, but this has not been confirmed by research [1,2,3]. Patients with Klinefelter syndrome (47, XXY) have a better chance of survival until birth than patients with a 46, XY karyotype, possibly because they have two X chromosomes [2,6]. The gene responsible for AS has not been identified to date.…”

“…A few 46, XY boys have been described to have the characteristic presentation of this syndrome [1,2,3,4,5]. However, mutations in the male population (XY) are almost always lethal [1,6,7]. The main features of this syndrome include epileptic spasms with a tendency of progression, agenesis or hypogenesis of the corpus callosum (CC) and distinctive chorioretinal lacunae.…”