Aicardi Syndrome

A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.

Also Known As:

Networked: 82 relevant articles (2 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Seizures (Seizure)
2.	Lissencephaly
3.	Mental Retardation (Idiocy)
4.	Hydrocephalus (Hydrocephaly)
5.	Macrocephaly

Experts

1.	Sutton, V Reid: 4 articles (06/2012 - 11/2008)
2.	Van den Veyver, Ignatia B: 4 articles (06/2012 - 01/2004)
3.	Eble, Tanya N: 3 articles (06/2012 - 03/2009)
4.	Lewis, Richard A: 2 articles (06/2012 - 03/2009)
5.	Carmant, Lionel: 2 articles (04/2011 - 11/2004)
6.	Wang, Xiaoling: 2 articles (10/2009 - 03/2009)
7.	Lewis, Richard Alan: 2 articles (10/2009 - 11/2008)
8.	Gilbert-Barness, Enid: 2 articles (01/2009 - 03/2002)
9.	Opitz, John M: 2 articles (08/2005 - 03/2002)
10.	Goudie, David: 1 article (07/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aicardi Syndrome:

1.	VigabatrinFDA Link 03/01/1995 - "Another infant with Aicardi syndrome improved with vigabatrin. " 11/09/2004 - "Early treatment of Aicardi syndrome with vigabatrin can improve outcome."
2.	Adrenocorticotropic Hormone (ACTH)FDA Link 11/01/1991 - "These findings indicate that the auditory system is also involved in the Aicardi syndrome and that ACTH is effective for its dysfunction." 07/01/1990 - "The features of these are 1) late onset of seizures, 2) good response to ACTH therapy, 3) no significant abnormalities of brain except for agenesis of corpus callosum."
3.	DNA (Deoxyribonucleic Acid)IBA 01/01/1991 - "Aicardi syndrome: early neuroradiological manifestations and results of DNA studies in one patient." 10/01/2009 - "As an alternative approach to localize the mutant gene, we screened the DNA of 38 girls with Aicardi syndrome by high-resolution, genome-wide array comparative genomic hybridization for copy number gains and losses. " 03/01/2009 - "We studied XCI patterns in DNA extracted from peripheral blood leukocytes of 35 girls with typical Aicardi syndrome (AIC) from 0.25 to 16.42 years of age, using the human androgen receptor assay. "
4.	Fluorescein (Funduscein)FDA LinkGeneric 06/01/2011 - "Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study." 06/01/2011 - "We report the use of fluorescein angiography and spectral domain optical coherence tomography to examine the posterior segment structures in an 8-month-old girl with Aicardi syndrome. "
5.	XXY syndromeIBA 07/01/2014 - "Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?" 10/01/2009 - "Aicardi syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. " 11/15/2008 - "Aicardi syndrome is sporadic and has been observed only in females and 47,XXY males. " 06/01/1990 - "All patients with Aicardi syndrome are female or have a 47,XXY karyotype. " 12/01/1979 - "The Aicardi syndrome in a 47, XXY male."
6.	Retinaldehyde (Retinal)IBA 01/01/2009 - "Cerebellar and retinal migration defects have not been described before in Aicardi syndrome and may have had a bearing on this patient's eventual outcome." 07/01/2000 - "There is some similarity to patients with Aicardi syndrome (AS), but the retinal lesions in our patient are different and she does not have agenesis of the corpus callosum, one of the diagnostic features of AS. " 02/26/1998 - "Detailed ophthalmologic examination did not show retinal lacunae typical of Aicardi syndrome. " 10/01/1990 - "However, she had a normal-appearing corpus callosum on CT and magnetic resonance imaging scans of the brain and her retinal findings were not typical for Aicardi syndrome. " 11/01/1986 - "Anomalies of retinal architecture in Aicardi syndrome."
7.	X-linked HydrocephalusIBA 04/01/2012 - "X-linked hydrocephalus (XLH) has an incidence of 1/30,000 male births and is characterized by intellectual disability, spastic paraplegia, adducted thumbs, and agenesis of corpus callosum, and/or corticospinal tract. " 01/01/2001 - "L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. " 07/01/1992 - "X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 30007) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of corpus callosum and mental retardation. " 06/01/1997 - "X-linked hydrocephalus, MASA syndrome and certain forms of X-linked spastic paraplegia and agenesis of corpus callosum are now known to be due to mutations in the gene for the neural cell adhesion molecule L1 (19, 30). "
8.	ColpocephalyIBA 05/01/2010 - "agenesis of corpus callosum, colpocephaly, and pachygyria as well as strabismus and tracheo-laryngeal hypoplasia, were diagnosed. " 05/01/2009 - "Calcified meconium balls in a newborn: an unusual case with imperforate anus, rectourinary fistula, colpocephaly, and agenesis of corpus callosum." 02/26/1998 - "In addition to microphthalmia and linear skin streaks, he had a secundum ASD, hypospadias with chordee, anal fistula, and agenesis of corpus callosum with colpocephaly. " 02/01/2001 - "A case of central nervous system anomalies(agenesis of corpus callosum, colpocephaly, hydrocephalus, congenital dermal sinus) associated with congenital heart disease(double-outlet right ventricle, complete endocardial cushion defect, atrial septal defect, pulmonary arterial stenosis, patent ductus arteriosus) is reported. " 02/01/2001 - "[A case of central nervous system anomalies (agenesis of corpus callosum, colpocephaly, hydrocephalus, congenital dermal sinus) associated with congenital heart disease(double-outlet right ventricle, complete endocardial cushion defect, atrial septal defect, pulmonary arterial stenosis, patent ductus arteriosus)]."
9.	Shapiro syndromeIBA 10/01/2013 - "The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome." 08/01/2005 - "Only 5 cases at best seem to conform to the pattern of spontaneous periodic hypothermia or Shapiro's syndrome (in which agenesis of corpus callosum is typically found). " 01/01/1984 - "We studied a patient with spontaneous periodic hypothermia, agenesis of corpus callosum (Shapiro's syndrome), polydipsia polyuria, and hyponatremia. "
10.	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 06/01/2006 - "A novel missense mutation of the L1CAM gene (Xq28) is described in an adult patient affected with severe mental retardation, spastic paraparesis, adducted thumbs, agenesis of corpus callosum and microcephaly (L1 disease). " 06/01/1997 - "X-linked hydrocephalus, MASA syndrome and certain forms of X-linked spastic paraplegia and agenesis of corpus callosum are now known to be due to mutations in the gene for the neural cell adhesion molecule L1 (19, 30). "

Therapies and Procedures

1.	Vagus Nerve Stimulation 03/01/2014 - "Seizure outcome following CC or vagus nerve stimulation in patients with Aicardi syndrome is variable. "
2.	Split-Brain Procedure (Split-Brain) 06/01/2001 - "We report a case of Aicardi syndrome in a female child with 2 month old, ocular abnormalities "chorioretinal lacunae", flexion in spasms, hipsarrhythmic "split brain", callosal agenesis referred to Service of Neuropediatric and Neurophysiology of Base Hospital of São José do Rio Preto, SP, Brazil."
3.	Fundoplication 02/01/2011 - "Anesthetic management of a child with Aicardi syndrome undergoing laparoscopic Nissen's fundoplication: a case report."
4.	Ventriculoperitoneal Shunt 12/01/1999 - "One of the born children had Pallister-Hall syndrome and died on day 19, and another had Aicardi's syndrome, is retarded and has fits, 1 with a posterior fossa cyst developed hydrocephalus in utero and was delivered early for the insertion of a ventriculoperitoneal shunt, he is moderately mentally delayed. "
5.	Traction 02/01/1997 - "On the basis of histological findings reported in the literature we suggest a combined pathogenesis of the ablatio retinae in our patient with Aicardi syndrome: traction and foramina."