Aicardi syndrome
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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
- The mutated gene in Aicardi syndrome has not been identified.[5]
- It is thought that Aicardi syndrome is caused by de novo mutations in X-chromosome that cause its inactivation. There are no reported cases of transmitted deffective X chromosome. [6]
- Attempts to identify the mutated gene in Aicardi syndrome by X-chromosome DNA microarrays, comparative hybridization, and genome sequencing have been unsuccessfull.[7][8]
- Most of the cases, Aicardi syndrome appears to be lethal in males with only one X chromosome.[5]
- Rare cases of males with Aicardi syndrome have been reported, these present with a XXY karyotype (Klinefelter syndrome).[9][10] Cases with XY karyotype are thought to be caused by mosaicisms.[11][12]
Causes
Disease name] may be caused by [cause1], [cause2], or [cause3].
OR
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 here.
Differentiating Aicardi syndrome from Other Diseases
- [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as:
- [Differential dx1]
- [Differential dx2]
- [Differential dx3]
Epidemiology and Demographics
- Aicardi syndrome is a very rare condition. A precise prevalence and incidence has not been calculated.
- Around 500 cases of Aicardi syndrome have been reported worldwide.
Gender
- Females are much more commonly affected with Aicardi syndrome than males.[5]
- The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
- In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].
Age[edit | edit source]
- Patients of all age groups may develop [disease name].
- [Disease name] is more commonly observed among patients aged [age range] years old.
- [Disease name] is more commonly observed among [elderly patients/young patients/children].
Gender[edit | edit source]
- [Disease name] affects men and women equally.
- [Gender 1] are more commonly affected with [disease name] than [gender 2].
- The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.
Race[edit | edit source]
- There is no racial predilection for [disease name].
- [Disease name] usually affects individuals of the [race 1] race.
- [Race 2] individuals are less likely to develop [disease name].
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
Natural History, Complications, Prognosis
- 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][13][14]
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.
Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems.
The prognosis varies widely from case to case. However, all individuals reported with Aicardi syndrome to date have experienced 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 40’s. 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].
- 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.[15] (modified from Aicardi 1999[16])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.[17]
| 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
Neurologic
- Axial hypotonia[18]
- Appendicular hypertonia with spasticity[18]
- Brisk deep tendon reflexes[18]
- Hemiparesis
- With or without intellectual disability[19][20]
- Nystagmus
Ophthalmologic
- Chorioretinal lacunae[21][22]
- Unilateral microphthalmia
- Optic nerve coloboma
- Detached retina
- Optic nerve dysplasia or hypoplasia
- Persistent fetal vasculature
Craniofacial
- Microcephaly
- Short philtrum
- Prominent premaxilla
- Large ears
- Sparse lateral eyebrows[23]
- Plagiocephaly
- Cleft lip and palate
Skeletal
- Costovertebral defects (hemivertebrae, block vertebrae, fused vertebrae, and missing ribs)
- Scoliosis[24]
- Hip dysplasia
Gastrointestinal
- Constipation
- Gastroesophageal reflux
- Diarrhea
- Feeding difficulties[25]
Extremities
- Small hands[26]
Dermatologic
Tumors/malignancies
- Choroid plexus papillomas[27][28]
- Also lipomas, angiosarcomas, hepatoblastomas, intestinal polyposis, embryonal carcinomas,and large-cell medulloblastomas has been reported[29][30][26]
Endocrine
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
- There are no electrocardiogram findings associated with Aicardi syndrome.
X-ray
- X-ray of the spine may reveal scoliosis, and rib abnormalities.
Echocardiography or Ultrasound
- There are no characteristic echocardiography/ultrasound findings associated with Aicardi syndrome.
CT scan
- CT scan of the head in Aicardi syndrome reveals an agenesis of the corpus callosumm.
- 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, and gross cerebral hemispheric asymmetry.
MRI
- MRI of the head in Aicardi syndrome reveals an agenesis of the corpus callosumm.
- MRI of the head in Aicardi syndrome may reveal cortical malformations, periventricular cysts around the third ventricle, choroid plexus, periventricular and subcortical heterotopia, and gross cerebral hemispheric asymmetry.
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 management of seizures and early/continuing intervention programs for developmental delays. Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems. Treatment for prencephalic 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 gastro-intestinal 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
- There are no primary preventive measures available for Aicardi syndrome.[31]
- Secondary preventive measures includes routine dermatologic, gastrointestinal, and orthopedic evaluations to monitor for malignancies, gastrointestinal problems, and degree of scoliosis respectively.[31]
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
- ↑ KRAUSE AC (October 1946). "Congenital encephalo-ophthalmic dysplasia". Arch Ophthal. 36 (4): 387–44. doi:10.1001/archopht.1946.00890210395001. PMID 21002031.
- ↑ 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.
- ↑ 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.
- ↑ 4.0 4.1 "www.int-pediatrics.org" (PDF).
- ↑ 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) - ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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)
- ↑ 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.
- ↑ 14.0 14.1 14.2 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.
- ↑ 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.
- ↑ "www.int-pediatrics.org" (PDF).
- ↑ 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) - ↑ 18.0 18.1 18.2 Aicardi J (April 2005). "Aicardi syndrome". Brain Dev. 27 (3): 164–71. doi:10.1016/j.braindev.2003.11.011. PMID 15737696.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 26.0 26.1 26.2 26.3 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 31.0 31.1 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)