Aicardi syndrome: Difference between revisions

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==Causes==
==Causes==
Disease name] may be caused by [cause1], [cause2], or [cause3].


OR
* The cause of Aicardi syndrome has not been identified. Due to almost exclisive involvement to [[females]], it is thought that causative [[mutation]] is located in [[X chromosome]], but this altered [[gene]] has not been identified.<ref name="urlAicardi Syndrome - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1381/ |title=Aicardi Syndrome - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref>
 
Common causes of [disease] include [cause1], [cause2], and [cause3].
 
OR
 
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
 
OR
 
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]].


==Differentiating {{PAGENAME}} from Other Diseases==
==Differentiating {{PAGENAME}} from Other Diseases==


*Aicardi syndrome must be differentiated from other diseases, such as:
*Aicardi syndrome must be differentiated from other diseases, such as:
 
**[[Agenesis of the corpus callosum]]. Is a rare [[congenital]] (may be [[Inheritance|inherited]]) condition characterized by early onset of [[seizures]] since the first weeks of life, [[failure to thrive]], and or [[hydrocephalus]].<ref name="pmid11160959">{{cite journal |vauthors=Barkovich AJ, Simon EM, Walsh CA |title=Callosal agenesis with cyst: a better understanding and new classification |journal=Neurology |volume=56 |issue=2 |pages=220–7 |date=January 2001 |pmid=11160959 |doi=10.1212/wnl.56.2.220 |url=}}</ref> Aicardi syndrome may be compossed by abcense [[Agenesis of the corpus callosum|corpus callosum]], but not necessarly all [[agenesis]] are Aicardi syndrome.<ref name="urlAgenesis of Corpus Callosum - NORD (National Organization for Rare Disorders)">{{cite web |url=https://rarediseases.org/rare-diseases/agenesis-of-corpus-callosum/#:~:text=Agenesis%20of%20corpus%20callosum%20(ACC,normally%20composed%20of%20transverse%20fibers. |title=Agenesis of Corpus Callosum - NORD (National Organization for Rare Disorders) |format= |work= |accessdate=}}</ref>
** Agenesis of the corpus callosum<ref name="pmid11160959">{{cite journal |vauthors=Barkovich AJ, Simon EM, Walsh CA |title=Callosal agenesis with cyst: a better understanding and new classification |journal=Neurology |volume=56 |issue=2 |pages=220–7 |date=January 2001 |pmid=11160959 |doi=10.1212/wnl.56.2.220 |url=}}</ref>
**[[Microcephaly]]. Is a [[congenital]] defect present in most of the cases of Aicardi syndrome, but may be as well an isolated condition.
** Microcephaly
**[[Neuronal migration disorders]]. Are congenital conditions that lead to developement abnormalities in [[brain]] structure. These include [[lissencephaly]], [[Heterotopia (medicine)|heterotopia]], [[polymicrogyria]], [[focal cortical dysplasia]], and Aicardi syndrome.<ref name="GuerriniParrini2010">{{cite journal|last1=Guerrini|first1=Renzo|last2=Parrini|first2=Elena|title=Neuronal migration disorders|journal=Neurobiology of Disease|volume=38|issue=2|year=2010|pages=154–166|issn=09699961|doi=10.1016/j.nbd.2009.02.008}}</ref>
** Neuronal migration disorders
**Oculocerebrocutaneous syndrome (OCCS).<ref name="pmid15879499">{{cite journal |vauthors=Moog U, Jones MC, Bird LM, Dobyns WB |title=Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype |journal=J. Med. Genet. |volume=42 |issue=12 |pages=913–21 |date=December 2005 |pmid=15879499 |pmc=1735958 |doi=10.1136/jmg.2005.031369 |url=}}</ref>
** Oculocerebrocutaneous syndrome (OCCS)<ref name="pmid15879499">{{cite journal |vauthors=Moog U, Jones MC, Bird LM, Dobyns WB |title=Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype |journal=J. Med. Genet. |volume=42 |issue=12 |pages=913–21 |date=December 2005 |pmid=15879499 |pmc=1735958 |doi=10.1136/jmg.2005.031369 |url=}}</ref>
**[[Infantile spasms]].
** Infantile spasms


==Epidemiology and Demographics==
==Epidemiology and Demographics==


*Aicardi syndrome is a very rare condition. A precise prevalence and incidence have not been calculated.
*Aicardi syndrome is a very [[Rare disease|rare condition]]. A precise [[prevalence]] and [[incidence]] have not been calculated.
*Around 500 cases of Aicardi syndrome have been reported worldwide.
*Around 500 cases of Aicardi syndrome have been reported worldwide.
*The incidence of Aicardi syndrome has been estimated between 1:105,000 and 1:167,000 in the United States and between 1:93,000 and 1:99,000 in some European countries.<ref name="pmid181826432">{{cite journal |vauthors=Kroner BL, Preiss LR, Ardini MA, Gaillard WD |title=New incidence, prevalence, and survival of Aicardi syndrome from 408 cases |journal=J. Child Neurol. |volume=23 |issue=5 |pages=531–5 |date=May 2008 |pmid=18182643 |doi=10.1177/0883073807309782 |url=}}</ref><ref name="pmid203015554">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>
*The incidence of Aicardi syndrome has been estimated between 1:105,000 and 1:167,000 in the United States and between 1:93,000 and 1:99,000 in some European countries.<ref name="pmid181826432">{{cite journal |vauthors=Kroner BL, Preiss LR, Ardini MA, Gaillard WD |title=New incidence, prevalence, and survival of Aicardi syndrome from 408 cases |journal=J. Child Neurol. |volume=23 |issue=5 |pages=531–5 |date=May 2008 |pmid=18182643 |doi=10.1177/0883073807309782 |url=}}</ref><ref name="pmid203015554">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>


* The prevalence of Aicardi syndrome in the United States has been calculated to be over 853 in the US and over 4,000 worldwide.<ref name="pmid181826432" /><ref name="pmid203015554" />
*The [[prevalence]] of Aicardi syndrome in the United States has been calculated to be over 853 in the US and over 4,000 worldwide.<ref name="pmid181826432" /><ref name="pmid203015554" />


===Gender===
===Gender===
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===Age[edit | edit source]===
===Age[edit | edit source]===


*Aicardi syndrome is a congenital disorder, but most cases are identified around 5 months of age.
*Aicardi syndrome is a [[congenital disorder]], but most cases are identified around 5 months of [[age]].


===Race[edit | edit source]===
===Race[edit | edit source]===


*Apparently, there is no racial predilection for Aicardi syndrome.
*Apparently, there is no [[racial]] predilection for Aicardi syndrome.


<br />
<br />
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==Screening==
==Screening==


* Since the vast majority of Aicardi syndrome cases are caused by ''de novo'' mutations, there is no indication for screening in family members of an affected patient. There is only 1% chance that a sibling of an affected individual will have the disease.
*Since the vast majority of Aicardi syndrome cases are caused by ''[[de novo]]'' [[mutations]], there is no indication for [[screening]] in family members of an affected patient. There is only 1% chance that a sibling of an affected individual will have the [[disease]].
* Females with Aicardi syndrome have 50% of chances to transmit the affected allele to offspring, while conceptuses in males are nonviable.  
*Females with Aicardi syndrome have 50% of chances to transmit the affected allele to offspring, while conceptuses in [[males]] are nonviable.
* Some features from Aicardi syndrome may be detected by prenatal ultrasound.
*Some features from Aicardi syndrome may be detected by [[prenatal]] [[ultrasound]].
* Molecular genetic testing is not feasible due to the unawareness of the responsible gene mutation.
*[[Molecular]] [[Genetic Disorders|genetic testing]] is not feasible due to the unawareness of the responsible [[gene]] [[mutation]].


==Natural History, Complications, Prognosis==
==Natural History, Complications, Prognosis==


*Most of affected females are apparently normal at birth and present infantile spasms around the age of 3 months.  
*Most of affected [[females]] are apparently normal at [[birth]] and present [[infantile spasms]] around the age of 3 months.
*Prognosis for Aicardi syndrome is variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.<ref name="pmid20301555" /><ref name="pmid18182643">{{cite journal |vauthors=Kroner BL, Preiss LR, Ardini MA, Gaillard WD |title=New incidence, prevalence, and survival of Aicardi syndrome from 408 cases |journal=J. Child Neurol. |volume=23 |issue=5 |pages=531–5 |date=May 2008 |pmid=18182643 |doi=10.1177/0883073807309782 |url=}}</ref><ref name="pmid176214792">{{cite journal |vauthors=Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB |title=Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children |journal=J. Child Neurol. |volume=22 |issue=2 |pages=176–84 |date=February 2007 |pmid=17621479 |doi=10.1177/0883073807300298 |url=}}</ref>
*[[Prognosis]] for Aicardi syndrome is variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.<ref name="pmid20301555" /><ref name="pmid18182643">{{cite journal |vauthors=Kroner BL, Preiss LR, Ardini MA, Gaillard WD |title=New incidence, prevalence, and survival of Aicardi syndrome from 408 cases |journal=J. Child Neurol. |volume=23 |issue=5 |pages=531–5 |date=May 2008 |pmid=18182643 |doi=10.1177/0883073807309782 |url=}}</ref><ref name="pmid176214792">{{cite journal |vauthors=Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB |title=Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children |journal=J. Child Neurol. |volume=22 |issue=2 |pages=176–84 |date=February 2007 |pmid=17621479 |doi=10.1177/0883073807300298 |url=}}</ref>
 
 
Additional complications sometimes seen with Aicardi syndrome include [[porencephaly|porencephalic cyst]]s and [[hydrocephalus]], and gastrointestinal problems.
 
The [[prognosis]] varies widely from case to case. However, all individuals reported with Aicardi syndrome to date have experienced a developmental delay of a significant degree, typically resulting in moderate to profound [[mental retardation]]. The age range of the individuals reported with Aicardi syndrome is from birth to the mid-’40s.  Aicardi syndrome appears to be lethal in normal males who have only one [[X chromosome]] (and a [[Y chromosome]]).


*The majority of patients with [disease name] remain asymptomatic for [duration/years].
*The majority of patients with [disease name] remain asymptomatic for [duration/years].
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===Diagnostic Criteria===
===Diagnostic Criteria===


*The diagnosis of Aicardi syndrome according to Sutton et al.<ref name="pmid16158440">{{cite journal |vauthors=Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB |title=Facial and physical features of Aicardi syndrome: infants to teenagers |journal=Am. J. Med. Genet. A |volume=138A |issue=3 |pages=254–8 |date=October 2005 |pmid=16158440 |doi=10.1002/ajmg.a.30963 |url=}}</ref> (modified from Aicardi 1999<ref name="urlwww.int-pediatrics.org2">{{cite web |url=http://www.int-pediatrics.org/PDF/Volume%2014/14-1/aicardi.pdf |title=www.int-pediatrics.org |format= |work= |accessdate=}}</ref>)is made by the presence of all 3 classic features or 2 classic features plus 2 major features; in addition there are supporting features that make diagnosis more reliable.<ref name="pmid203015552">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>
*The [[diagnosis]] of Aicardi syndrome according to Sutton et al.<ref name="pmid16158440">{{cite journal |vauthors=Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB |title=Facial and physical features of Aicardi syndrome: infants to teenagers |journal=Am. J. Med. Genet. A |volume=138A |issue=3 |pages=254–8 |date=October 2005 |pmid=16158440 |doi=10.1002/ajmg.a.30963 |url=}}</ref> (modified from Aicardi 1999<ref name="urlwww.int-pediatrics.org2">{{cite web |url=http://www.int-pediatrics.org/PDF/Volume%2014/14-1/aicardi.pdf |title=www.int-pediatrics.org |format= |work= |accessdate=}}</ref>)is made by the presence of all 3 classic features or 2 classic features plus 2 major features; in addition there are supporting features that make [[diagnosis]] more reliable.<ref name="pmid203015552">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>


{| class="wikitable"
{| class="wikitable"
|+Diagnosis of Aicardi syndrome
|+Diagnosis of Aicardi syndrome
! rowspan="3" |Classic features
! rowspan="3" |Classic features
|Agenesis of the corpus callosum
|[[Agenesis of the corpus callosum]]
|-
|-
|Infantile spasms
|[[Infantile spasms]]
|-
|-
|Distinctive chorioretinal lacunae
|Distinctive chorioretinal [[lacunae]]
|-
|-
! rowspan="4" |Major features
! rowspan="4" |Major features
|Cortical malformations
|[[Cortex|Cortical]] [[malformations]]
|-
|-
|Periventricular and subcortical heterotopia
|Periventricular and [[subcortical]] [[Heterotopia (medicine)|heterotopia]]
|-
|-
|Cysts around third cerebral ventricle and/or choroid plexus
|[[Cysts]] around [[Cerebral ventricle|third cerebral ventricle]] and/or [[choroid plexus]]
|-
|-
|Optic disc/nerve coloboma or hypoplasia
|[[Optic disc]]/nerve [[coloboma]] or [[hypoplasia]]
|-
|-
! rowspan="5" |Supporting features
! rowspan="5" |Supporting features
|Vertebral and rib abnormalities
|[[Vertebral]] and [[rib]] abnormalities
|-
|-
|Microphthalmia
|[[Microphthalmia]]
|-
|-
|"Split-brain" EEG
|"Split-brain" [[EEG]]
|-
|-
|Gross cerebral hemispheric asymmetry
|Gross [[Cerebral hemispheres|cerebral hemispheric]] asymmetry
|-
|-
|Vascular malformations or vascular malignancy
|[[Vascular malformations]] or [[vascular malignancy]]
|}
|}


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===Physical Examination===
===Physical Examination===


* The following characteristics have been present among the reported cases of Aicardi syndrome, it should be noted that most of these features are not present and do not confirm the diagnostic criteria:
*The following characteristics have been present among the reported cases of Aicardi syndrome, it should be noted that most of these features are not present and do not confirm the diagnostic criteria:


====Neurologic====
====Neurologic====


*Axial hypotonia<ref name="pmid15737696">{{cite journal |vauthors=Aicardi J |title=Aicardi syndrome |journal=Brain Dev. |volume=27 |issue=3 |pages=164–71 |date=April 2005 |pmid=15737696 |doi=10.1016/j.braindev.2003.11.011 |url=}}</ref>
*[[Axial]] [[hypotonia]]<ref name="pmid15737696">{{cite journal |vauthors=Aicardi J |title=Aicardi syndrome |journal=Brain Dev. |volume=27 |issue=3 |pages=164–71 |date=April 2005 |pmid=15737696 |doi=10.1016/j.braindev.2003.11.011 |url=}}</ref>
*Appendicular hypertonia with spasticity<ref name="pmid15737696" />
*[[Appendicular]] [[hypertonia]] with [[spasticity]]<ref name="pmid15737696" />
*Brisk deep tendon reflexes<ref name="pmid15737696" />
*Brisk deep [[Tendon reflex|tendon reflexes]]<ref name="pmid15737696" />
*Hemiparesis
*[[Hemiparesis]]
*With or without intellectual disability<ref name="pmid12915018">{{cite journal |vauthors=Yacoub M, Missaoui N, Tabarli B, Ghorbel M, Tlili K, Selmi H, Essoussi A |title=[Aicardi syndrome with favorable outcome] |language=French |journal=Arch Pediatr |volume=10 |issue=6 |pages=530–2 |date=June 2003 |pmid=12915018 |doi=10.1016/s0929-693x(03)00095-2 |url=}}</ref><ref name="pmid17207597">{{cite journal |vauthors=Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P |title=Aicardi syndrome with favorable outcome: case report and review |journal=Brain Dev. |volume=29 |issue=7 |pages=443–6 |date=August 2007 |pmid=17207597 |doi=10.1016/j.braindev.2006.11.011 |url=}}</ref>
*With or without [[intellectual disability]]<ref name="pmid12915018">{{cite journal |vauthors=Yacoub M, Missaoui N, Tabarli B, Ghorbel M, Tlili K, Selmi H, Essoussi A |title=[Aicardi syndrome with favorable outcome] |language=French |journal=Arch Pediatr |volume=10 |issue=6 |pages=530–2 |date=June 2003 |pmid=12915018 |doi=10.1016/s0929-693x(03)00095-2 |url=}}</ref><ref name="pmid17207597">{{cite journal |vauthors=Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P |title=Aicardi syndrome with favorable outcome: case report and review |journal=Brain Dev. |volume=29 |issue=7 |pages=443–6 |date=August 2007 |pmid=17207597 |doi=10.1016/j.braindev.2006.11.011 |url=}}</ref>
*Nystagmus
*[[Nystagmus]]


====Ophthalmologic====
====Ophthalmologic====


*Chorioretinal lacunae<ref name="pmid2773986">{{cite journal |vauthors=Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS |title=Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome |journal=Am. J. Med. Genet. |volume=32 |issue=4 |pages=461–7 |date=April 1989 |pmid=2773986 |doi=10.1002/ajmg.1320320405 |url=}}</ref><ref name="pmid16967367">{{cite journal |vauthors=Palmér L, Zetterlund B, Hård AL, Steneryd K, Kyllerman M |title=Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002 |journal=Neuropediatrics |volume=37 |issue=3 |pages=154–8 |date=June 2006 |pmid=16967367 |doi=10.1055/s-2006-924486 |url=}}</ref>
*Chorioretinal [[lacunae]]<ref name="pmid2773986">{{cite journal |vauthors=Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS |title=Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome |journal=Am. J. Med. Genet. |volume=32 |issue=4 |pages=461–7 |date=April 1989 |pmid=2773986 |doi=10.1002/ajmg.1320320405 |url=}}</ref><ref name="pmid16967367">{{cite journal |vauthors=Palmér L, Zetterlund B, Hård AL, Steneryd K, Kyllerman M |title=Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002 |journal=Neuropediatrics |volume=37 |issue=3 |pages=154–8 |date=June 2006 |pmid=16967367 |doi=10.1055/s-2006-924486 |url=}}</ref>
*Unilateral microphthalmia
*Unilateral [[microphthalmia]]
*Optic nerve coloboma
*[[Optic nerve]] [[coloboma]]
*Detached retina
*[[Retinal detachment|Detached retina]]
*Optic nerve dysplasia or hypoplasia
*[[Optic nerve]] [[dysplasia]] or [[hypoplasia]]
*Persistent fetal vasculature
*Persistent [[fetal]] [[vasculature]]


====Craniofacial====
====Craniofacial====


*Microcephaly
*[[Microcephaly]]
*Short philtrum
*Short [[philtrum]]
*Prominent premaxilla
*Prominent [[premaxilla]]
*Large ears
*Large [[ears]]
*Sparse lateral eyebrows<ref name="pmid161584402">{{cite journal |vauthors=Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB |title=Facial and physical features of Aicardi syndrome: infants to teenagers |journal=Am. J. Med. Genet. A |volume=138A |issue=3 |pages=254–8 |date=October 2005 |pmid=16158440 |doi=10.1002/ajmg.a.30963 |url=}}</ref>
*Sparse lateral [[eyebrows]]<ref name="pmid161584402">{{cite journal |vauthors=Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB |title=Facial and physical features of Aicardi syndrome: infants to teenagers |journal=Am. J. Med. Genet. A |volume=138A |issue=3 |pages=254–8 |date=October 2005 |pmid=16158440 |doi=10.1002/ajmg.a.30963 |url=}}</ref>
*Plagiocephaly
*[[Plagiocephaly]]
*Cleft lip and palate
*[[Cleft lip and palate]]


'''Skeletal'''
'''Skeletal'''


*Costovertebral defects (hemivertebrae, block vertebrae, fused vertebrae, and missing ribs)
*[[Costovertebral]] defects (hemivertebrae, block [[vertebrae]], fused [[vertebrae]], and missing [[ribs]])
*Scoliosis<ref name="pmid27739862">{{cite journal |vauthors=Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS |title=Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome |journal=Am. J. Med. Genet. |volume=32 |issue=4 |pages=461–7 |date=April 1989 |pmid=2773986 |doi=10.1002/ajmg.1320320405 |url=}}</ref>
*[[Scoliosis]]<ref name="pmid27739862">{{cite journal |vauthors=Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS |title=Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome |journal=Am. J. Med. Genet. |volume=32 |issue=4 |pages=461–7 |date=April 1989 |pmid=2773986 |doi=10.1002/ajmg.1320320405 |url=}}</ref>
*Hip dysplasia
*[[Hip dysplasia]]


'''Gastrointestinal'''
'''Gastrointestinal'''


*Constipation
*[[Constipation]]
*Gastroesophageal reflux
*[[Gastroesophageal reflux]]
*Diarrhea
*[[Diarrhea]]
*Feeding difficulties<ref name="pmid17621479">{{cite journal |vauthors=Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB |title=Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children |journal=J. Child Neurol. |volume=22 |issue=2 |pages=176–84 |date=February 2007 |pmid=17621479 |doi=10.1177/0883073807300298 |url=}}</ref>
*[[Feeding difficulties]]<ref name="pmid17621479">{{cite journal |vauthors=Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB |title=Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children |journal=J. Child Neurol. |volume=22 |issue=2 |pages=176–84 |date=February 2007 |pmid=17621479 |doi=10.1177/0883073807300298 |url=}}</ref>


'''Extremities'''
'''Extremities'''


*Small hands<ref name="pmid161584403">{{cite journal |vauthors=Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB |title=Facial and physical features of Aicardi syndrome: infants to teenagers |journal=Am. J. Med. Genet. A |volume=138A |issue=3 |pages=254–8 |date=October 2005 |pmid=16158440 |doi=10.1002/ajmg.a.30963 |url=}}</ref>
*Small [[hands]]<ref name="pmid161584403">{{cite journal |vauthors=Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB |title=Facial and physical features of Aicardi syndrome: infants to teenagers |journal=Am. J. Med. Genet. A |volume=138A |issue=3 |pages=254–8 |date=October 2005 |pmid=16158440 |doi=10.1002/ajmg.a.30963 |url=}}</ref>


'''Dermatologic'''
'''Dermatologic'''


*Vascular malformations<ref name="pmid161584403" />
*[[Vascular malformations]]<ref name="pmid161584403" />
*Pigmentary lesions<ref name="pmid161584403" />
*Pigmentary lesions<ref name="pmid161584403" />


'''Tumors/malignancies'''
'''Tumors/malignancies'''


*Choroid plexus papillomas<ref name="pmid11124640">{{cite journal |vauthors=Taggard DA, Menezes AH |title=Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report |journal=Pediatr Neurosurg |volume=33 |issue=4 |pages=219–23 |date=October 2000 |pmid=11124640 |doi=10.1159/000055956 |url=}}</ref><ref name="pmid12563397">{{cite journal |vauthors=Pianetti Filho G, Fonseca LF, da Silva MC |title=Choroid plexus papilloma and Aicardi syndrome: case report |journal=Arq Neuropsiquiatr |volume=60 |issue=4 |pages=1008–10 |date=December 2002 |pmid=12563397 |doi=10.1590/s0004-282x2002000600023 |url=}}</ref>
*[[Choroid plexus]] [[papillomas]]<ref name="pmid11124640">{{cite journal |vauthors=Taggard DA, Menezes AH |title=Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report |journal=Pediatr Neurosurg |volume=33 |issue=4 |pages=219–23 |date=October 2000 |pmid=11124640 |doi=10.1159/000055956 |url=}}</ref><ref name="pmid12563397">{{cite journal |vauthors=Pianetti Filho G, Fonseca LF, da Silva MC |title=Choroid plexus papilloma and Aicardi syndrome: case report |journal=Arq Neuropsiquiatr |volume=60 |issue=4 |pages=1008–10 |date=December 2002 |pmid=12563397 |doi=10.1590/s0004-282x2002000600023 |url=}}</ref>
*Also lipomas, angiosarcomas, hepatoblastomas, intestinal polyposis, embryonal carcinomas,and large-cell medulloblastomas has been reported<ref name="pmid19610089">{{cite journal |vauthors=Kamien BA, Gabbett MT |title=Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration |journal=Am. J. Med. Genet. A |volume=149A |issue=8 |pages=1850–2 |date=August 2009 |pmid=19610089 |doi=10.1002/ajmg.a.32985 |url=}}</ref><ref name="pmid15534766">{{cite journal |vauthors=Palmér L, Nordborg C, Steneryd K, Aman P, Kyllerman M |title=Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review |journal=Neuropediatrics |volume=35 |issue=5 |pages=307–11 |date=October 2004 |pmid=15534766 |doi=10.1055/s-2004-821253 |url=}}</ref><ref name="pmid161584403" />
*Also [[lipomas]], [[Angiosarcoma|angiosarcomas]], [[Hepatoblastoma|hepatoblastomas]], [[intestinal]] [[polyposis]], [[Embryonal carcinoma|embryonal]] [[carcinomas]],and large-cell [[medulloblastomas]] has been reported<ref name="pmid19610089">{{cite journal |vauthors=Kamien BA, Gabbett MT |title=Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration |journal=Am. J. Med. Genet. A |volume=149A |issue=8 |pages=1850–2 |date=August 2009 |pmid=19610089 |doi=10.1002/ajmg.a.32985 |url=}}</ref><ref name="pmid15534766">{{cite journal |vauthors=Palmér L, Nordborg C, Steneryd K, Aman P, Kyllerman M |title=Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review |journal=Neuropediatrics |volume=35 |issue=5 |pages=307–11 |date=October 2004 |pmid=15534766 |doi=10.1055/s-2004-821253 |url=}}</ref><ref name="pmid161584403" />


'''Endocrine'''  
'''Endocrine'''  
Line 218: Line 201:
===Laboratory Findings===
===Laboratory Findings===


*There are no specific laboratory findings associated with Aicardi syndrome.
*There are no specific [[laboratory]] findings associated with Aicardi syndrome.


===EEG===
===EEG===


*EEG findings associated with Aicardi syndrome include asynchronous multifocal epileptiform defects with breach subduing and separation between the two hemispheres (split-brain).
*[[EEG]] findings associated with Aicardi syndrome include asynchronous multifocal epileptiform defects with breach subduing and separation between the two hemispheres (split-brain).


<br />
<br />
Line 228: Line 211:
===Electrocardiogram===
===Electrocardiogram===


*There are no electrocardiogram findings associated with Aicardi syndrome.
*There are no [[electrocardiogram]] findings associated with Aicardi syndrome.


===X-ray===
===X-ray===


*X-ray of the spine may reveal scoliosis and rib abnormalities.
*[[X-rays|X-ray]] of the [[spine]] may reveal [[scoliosis]] and [[rib]] abnormalities.


===Echocardiography or Ultrasound===
===Echocardiography or Ultrasound===


*There are no characteristic echocardiography/ultrasound findings associated with Aicardi syndrome.
*There are no characteristic [[echocardiography]]/[[ultrasound]] findings associated with Aicardi syndrome.


===CT scan===
===CT scan===


*CT scan of the head in Aicardi syndrome reveals agenesis of the corpus callosum.
*[[CT scan]] of the head in Aicardi syndrome reveals [[agenesis]] of the [[corpus callosum]].
*CT scan of the head in Aicardi syndrome may reveal cortical malformations, periventricular cysts around the third ventricle, choroid plexus, and periventricular and subcortical heterotopia, [[porencephaly|porencephalic cyst]]s, [[hydrocephalus]], and gross cerebral hemispheric asymmetry.
*[[CT scan]] of the [[head]] in Aicardi syndrome may reveal [[Cortex|cortical]] [[malformations]], periventricular [[cysts]] around the [[third ventricle]], [[Choroid plexus|choroid plexu]]<nowiki/>s, and periventricular and subcortical [[Heterotopia (medicine)|heterotopia]], [[porencephaly|porencephalic cyst]]s, [[hydrocephalus]], and gross [[cerebral]] hemispheric asymmetry.


===MRI===
===MRI===


*MRI of the head in Aicardi syndrome reveals agenesis of the corpus callosum.
*[[MRI]] of the head in Aicardi syndrome reveals agenesis of the [[corpus callosum]].
*MRI of the head in Aicardi syndrome may reveal cortical malformations, periventricular cysts around the third ventricle, choroid plexus, periventricular and subcortical heterotopia, [[porencephaly|porencephalic cyst]]s, [[hydrocephalus]], and gross cerebral hemispheric asymmetry.
*[[MRI]] of the [[head]] in Aicardi syndrome may reveal [[Cortex|cortical]] [[malformations]], periventricular [[cysts]] around the [[third ventricle]], [[choroid plexus]], periventricular and [[subcortical]] [[Heterotopia (medicine)|heterotopia]], [[porencephaly|porencephalic cyst]]s, [[hydrocephalus]], and gross cerebral hemispheric asymmetry.


===Other Imaging Findings===
===Other Imaging Findings===


*<br />There are no other imaging findings associated with Aicardi syndrome.
*<br />There are no other [[imaging]] findings associated with Aicardi syndrome.


===Other Diagnostic Studies===
===Other Diagnostic Studies===
Line 272: Line 255:
===Prevention===
===Prevention===


*There are no primary preventive measures available for Aicardi syndrome.<ref name="pmid203015553">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>
*There are no [[Primary prevention|primary preventive]] measures available for Aicardi syndrome.<ref name="pmid203015553">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>


*Secondary preventive measures include routine dermatologic, gastrointestinal, and orthopedic evaluations to monitor for malignancies, gastrointestinal problems, and degree of scoliosis respectively.<ref name="pmid203015553" />
*[[Secondary prevention|Secondary preventive]] measures include routine [[Dermatological|dermatologic]], [[gastrointestinal]], and [[orthopedic]] evaluations to monitor for [[malignancies]], [[gastrointestinal]] problems, and degree of [[scoliosis]] respectively.<ref name="pmid203015553" />


==Support Organizations==
==Support Organizations==

Revision as of 01:43, 20 September 2020

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List of terms related to Aicardi syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.


Overview

Aicardi syndrome is a rare malformation characterized by the partial or total absence of the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Physical examination demonstrate microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Aicardi syndrome is an inherited X-linked dominant disorder trait that is incompatible with life in males.

Historical Perspective

  • In 1946, Krause described a 2-months old girl with seizures, mental retardation, and microcephalus which later died from pneumonia.[1]
  • In 1959, Klein described in an article called "The Pathogenesis of an Atypical Coloboma of the Choroid" an almost identical case of a 2-months old girls with same clinical and anatomopathologic findings as Krause.[2]
  • Aicardi syndrome was first fully described by the French neurologist Jean Aicardi in 1965 in his article "A new syndrome: Spasm in flexion, Callosal agenesis, Ocular abnormalities".[3][4]
  • Historically, Aicardi syndrome was characterized by the triad of infantile spasms, chorioretinal lacunae and agenesis of the corpus callosum.[4]

Classification

  • There is no established system for classification of Aicardi syndrome.

Pathosphysiology

Genetics

Causes

  • The cause of Aicardi syndrome has not been identified. Due to almost exclisive involvement to females, it is thought that causative mutation is located in X chromosome, but this altered gene has not been identified.[13]

Differentiating Aicardi syndrome from Other Diseases

Epidemiology and Demographics

  • Aicardi syndrome is a very rare condition. A precise prevalence and incidence have not been calculated.
  • Around 500 cases of Aicardi syndrome have been reported worldwide.
  • The incidence of Aicardi syndrome has been estimated between 1:105,000 and 1:167,000 in the United States and between 1:93,000 and 1:99,000 in some European countries.[18][19]
  • The prevalence of Aicardi syndrome in the United States has been calculated to be over 853 in the US and over 4,000 worldwide.[18][19]

Gender

  • Females are more commonly affected with Aicardi syndrome than males.[5]

Age[edit | edit source]

Race[edit | edit source]

  • Apparently, there is no racial predilection for Aicardi syndrome.


Risk Factors

  • Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

Screening

  • Since the vast majority of Aicardi syndrome cases are caused by de novo mutations, there is no indication for screening in family members of an affected patient. There is only 1% chance that a sibling of an affected individual will have the disease.
  • Females with Aicardi syndrome have 50% of chances to transmit the affected allele to offspring, while conceptuses in males are nonviable.
  • Some features from Aicardi syndrome may be detected by prenatal ultrasound.
  • Molecular genetic testing is not feasible due to the unawareness of the responsible gene mutation.

Natural History, Complications, Prognosis

  • Most of affected females are apparently normal at birth and present infantile spasms around the age of 3 months.
  • Prognosis for Aicardi syndrome is variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.[5][20][21]
  • The majority of patients with [disease name] remain asymptomatic for [duration/years].
  • Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
  • If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
  • Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
  • Prognosis is generally [excellent/good/poor], and the [1/5/10­year mortality/survival rate] of patients with [disease name] is approximately [#%].

Diagnosis

Diagnostic Criteria

  • The diagnosis of Aicardi syndrome according to Sutton et al.[22] (modified from Aicardi 1999[23])is made by the presence of all 3 classic features or 2 classic features plus 2 major features; in addition there are supporting features that make diagnosis more reliable.[24]
Diagnosis of Aicardi syndrome
Classic features Agenesis of the corpus callosum
Infantile spasms
Distinctive chorioretinal lacunae
Major features Cortical malformations
Periventricular and subcortical heterotopia
Cysts around third cerebral ventricle and/or choroid plexus
Optic disc/nerve coloboma or hypoplasia
Supporting features Vertebral and rib abnormalities
Microphthalmia
"Split-brain" EEG
Gross cerebral hemispheric asymmetry
Vascular malformations or vascular malignancy

History and Symptoms


  • [Disease name] is usually asymptomatic.
  • Symptoms of [disease name] may include the following:
  • [symptom 1]
  • [symptom 2]
  • [symptom 3]
  • [symptom 4]
  • [symptom 5]
  • [symptom 6]


Physical Examination

  • The following characteristics have been present among the reported cases of Aicardi syndrome, it should be noted that most of these features are not present and do not confirm the diagnostic criteria:

Neurologic

Ophthalmologic

Craniofacial

Skeletal

Gastrointestinal

Extremities

Dermatologic

Tumors/malignancies

Endocrine

  • Precocious puberty[21]
  • Delayed puberty[21]

Laboratory Findings

  • There are no specific laboratory findings associated with Aicardi syndrome.

EEG

  • EEG findings associated with Aicardi syndrome include asynchronous multifocal epileptiform defects with breach subduing and separation between the two hemispheres (split-brain).


Electrocardiogram

X-ray

Echocardiography or Ultrasound

CT scan

MRI

Other Imaging Findings


  • There are no other imaging findings associated with Aicardi syndrome.

Other Diagnostic Studies


  • There are no other diagnostic studies associated with Aicardi syndrome.


Treatment

Treatment of Aicardi syndrome primarily involves the management of seizures and early/continuing intervention programs for developmental delays. Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastrointestinal problems. Treatment for pre-encephalic cysts and/or hydrocephalus is often via a shunt or endoscopic fenestration of the cysts, though some require no treatment. Placement of a feeding tube, fundoplication, and surgeries to correct hernias or other gastrointestinal structural problems are sometimes used to treat gastrointestinal issues.

Medical Therapy

  • Tere is no treatment for Aicardi syndrome; the mainstay of therapy is supportive care.

Surgery

  • Surgery is the mainstay of therapy for [disease name].
  • [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
  • [Surgical procedure] can only be performed for patients with [disease stage] [disease name]. ===

Prevention

Support Organizations

Aicardi Syndrome Foundation Support and information for families caring for children with Aicardi Syndrome.
A.A.L Syndrome d'Aicardi
Sindrome di Aicardi

References

  1. ↑ KRAUSE AC (October 1946). "Congenital encephalo-ophthalmic dysplasia". Arch Ophthal. 36 (4): 387–44. doi:10.1001/archopht.1946.00890210395001. PMID 21002031.
  2. ↑ KLIEN BA (November 1959). "The pathogenesis of some atypical colobomas of the choroid". Am. J. Ophthalmol. 48: 597–607. doi:10.1016/0002-9394(59)90450-7. PMID 14409836.
  3. ↑ Wong, Bibiana K. Y.; Sutton, V. Reid (2018). "Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. doi:10.1002/ajmg.c.31658. ISSN 1552-4868.
  4. ↑ 4.0 4.1 "www.int-pediatrics.org" (PDF).
  5. ↑ 5.0 5.1 5.2 5.3 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
  6. ↑ Van den Veyver IB (2002). "Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?". Cytogenet. Genome Res. 99 (1–4): 289–96. doi:10.1159/000071606. PMID 12900577.
  7. ↑ Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB (October 2009). "A genome-wide screen for copy number alterations in Aicardi syndrome". Am. J. Med. Genet. A. 149A (10): 2113–21. doi:10.1002/ajmg.a.32976. PMC 3640635. PMID 19760649.
  8. ↑ Yilmaz S, Fontaine H, Brochet K, Grégoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P (2007). "Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH". Eur J Med Genet. 50 (5): 386–91. doi:10.1016/j.ejmg.2007.05.006. PMID 17625997.
  9. ↑ Zubairi MS, Carter RF, Ronen GM (February 2009). "A male phenotype with Aicardi syndrome". J. Child Neurol. 24 (2): 204–7. doi:10.1177/0883073808322337. PMID 19182158.
  10. ↑ Shetty J, Fraser J, Goudie D, Kirkpatrick M (July 2014). "Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?". Eur. J. Paediatr. Neurol. 18 (4): 529–31. doi:10.1016/j.ejpn.2014.03.004. PMID 24657013.
  11. ↑ Chappelow AV, Reid J, Parikh S, Traboulsi EI (December 2008). "Aicardi syndrome in a genotypic male". Ophthalmic Genet. 29 (4): 181–3. doi:10.1080/13816810802320209. PMID 19005990.
  12. ↑ Anderson S, Menten B, Kogelenberg M, Robertson S, Waginger M, Mentzel HJ, Brandl U, Skirl G, Willems P (February 2009). "Aicardi syndrome in a male patient". Neuropediatrics. 40 (1): 39–42. doi:10.1055/s-0029-1220760. PMID 19639527. Vancouver style error: initials (help)
  13. ↑ "Aicardi Syndrome - GeneReviews® - NCBI Bookshelf".
  14. ↑ Barkovich AJ, Simon EM, Walsh CA (January 2001). "Callosal agenesis with cyst: a better understanding and new classification". Neurology. 56 (2): 220–7. doi:10.1212/wnl.56.2.220. PMID 11160959.
  15. ↑ "Agenesis of Corpus Callosum - NORD (National Organization for Rare Disorders)".
  16. ↑ Guerrini, Renzo; Parrini, Elena (2010). "Neuronal migration disorders". Neurobiology of Disease. 38 (2): 154–166. doi:10.1016/j.nbd.2009.02.008. ISSN 0969-9961.
  17. ↑ Moog U, Jones MC, Bird LM, Dobyns WB (December 2005). "Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype". J. Med. Genet. 42 (12): 913–21. doi:10.1136/jmg.2005.031369. PMC 1735958. PMID 15879499.
  18. ↑ 18.0 18.1 Kroner BL, Preiss LR, Ardini MA, Gaillard WD (May 2008). "New incidence, prevalence, and survival of Aicardi syndrome from 408 cases". J. Child Neurol. 23 (5): 531–5. doi:10.1177/0883073807309782. PMID 18182643.
  19. ↑ 19.0 19.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
  20. ↑ Kroner BL, Preiss LR, Ardini MA, Gaillard WD (May 2008). "New incidence, prevalence, and survival of Aicardi syndrome from 408 cases". J. Child Neurol. 23 (5): 531–5. doi:10.1177/0883073807309782. PMID 18182643.
  21. ↑ 21.0 21.1 21.2 Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB (February 2007). "Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children". J. Child Neurol. 22 (2): 176–84. doi:10.1177/0883073807300298. PMID 17621479.
  22. ↑ Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.
  23. ↑ "www.int-pediatrics.org" (PDF).
  24. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
  25. ↑ 25.0 25.1 25.2 Aicardi J (April 2005). "Aicardi syndrome". Brain Dev. 27 (3): 164–71. doi:10.1016/j.braindev.2003.11.011. PMID 15737696.
  26. ↑ Yacoub M, Missaoui N, Tabarli B, Ghorbel M, Tlili K, Selmi H, Essoussi A (June 2003). "[Aicardi syndrome with favorable outcome]". Arch Pediatr (in French). 10 (6): 530–2. doi:10.1016/s0929-693x(03)00095-2. PMID 12915018.
  27. ↑ Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P (August 2007). "Aicardi syndrome with favorable outcome: case report and review". Brain Dev. 29 (7): 443–6. doi:10.1016/j.braindev.2006.11.011. PMID 17207597.
  28. ↑ Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (April 1989). "Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome". Am. J. Med. Genet. 32 (4): 461–7. doi:10.1002/ajmg.1320320405. PMID 2773986.
  29. ↑ Palmér L, Zetterlund B, Hård AL, Steneryd K, Kyllerman M (June 2006). "Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002". Neuropediatrics. 37 (3): 154–8. doi:10.1055/s-2006-924486. PMID 16967367.
  30. ↑ Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.
  31. ↑ Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (April 1989). "Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome". Am. J. Med. Genet. 32 (4): 461–7. doi:10.1002/ajmg.1320320405. PMID 2773986.
  32. ↑ Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB (February 2007). "Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children". J. Child Neurol. 22 (2): 176–84. doi:10.1177/0883073807300298. PMID 17621479.
  33. ↑ 33.0 33.1 33.2 33.3 Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.
  34. ↑ Taggard DA, Menezes AH (October 2000). "Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report". Pediatr Neurosurg. 33 (4): 219–23. doi:10.1159/000055956. PMID 11124640.
  35. ↑ Pianetti Filho G, Fonseca LF, da Silva MC (December 2002). "Choroid plexus papilloma and Aicardi syndrome: case report". Arq Neuropsiquiatr. 60 (4): 1008–10. doi:10.1590/s0004-282x2002000600023. PMID 12563397.
  36. ↑ Kamien BA, Gabbett MT (August 2009). "Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration". Am. J. Med. Genet. A. 149A (8): 1850–2. doi:10.1002/ajmg.a.32985. PMID 19610089.
  37. ↑ Palmér L, Nordborg C, Steneryd K, Aman P, Kyllerman M (October 2004). "Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review". Neuropediatrics. 35 (5): 307–11. doi:10.1055/s-2004-821253. PMID 15534766.
  38. ↑ 38.0 38.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)

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