Agenesis of the corpus callosum: Difference between revisions
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'''Agenesis of the Corpus Callosum''' ('''ACC''') is a rare birth defect ([[congenital disorder]]) in which there is a complete or partial absence of the [[corpus callosum]]. Agenesis of the corpus callosum occurs when the corpus callosum, the band of tissue connecting the two hemispheres of the brain, does not develop typically in utero. In addition to agenesis of the corpus callosum, other callosal disorders include hypogenesis (partial formation), dysgenesis (malformation) of the corpus callosum, and hypoplasia (underdevelopment) of the corpus callosum. [http://www.umaine.edu/edhd/research/accnetwork/whatisacc.htm] | '''Agenesis of the Corpus Callosum''' ('''ACC''') is a rare birth defect ([[congenital disorder]]) in which there is a complete or partial absence of the [[corpus callosum]]. Agenesis of the corpus callosum occurs when the corpus callosum, the band of tissue connecting the two hemispheres of the brain, does not develop typically in utero. In addition to agenesis of the corpus callosum, other callosal disorders include hypogenesis (partial formation), dysgenesis (malformation) of the corpus callosum, and hypoplasia (underdevelopment) of the corpus callosum. [http://www.umaine.edu/edhd/research/accnetwork/whatisacc.htm] | ||
== Cause == | == Cause == | ||
Agenesis of the Corpus Callosum is caused by disruption to development of the fetal brain between the 5th and 16th week of pregnancy.[http://www.nodcc.org/what_is_a_callosal_disorder.php] In most cases, it is not possible to know what caused an individual to have ACC or another callosal disorder. However, research suggests that some possible causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders. [http://www.umaine.edu/edhd/research/accnetwork/whatisacc.htm] | Agenesis of the Corpus Callosum is caused by disruption to development of the fetal brain between the 5th and 16th week of pregnancy.[http://www.nodcc.org/what_is_a_callosal_disorder.php] In most cases, it is not possible to know what caused an individual to have ACC or another callosal disorder. However, research suggests that some possible causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders. [http://www.umaine.edu/edhd/research/accnetwork/whatisacc.htm] | ||
=== Relation to other rare disorders: genetic ciliopathy === | |||
Until recently, the medical literature did not indicate a connection among many [[genetic disorder]]s, both [[Syndrome|genetic syndromes]] and [[Disease|genetic diseases]], that are now being found to be related. As a result of new genetic research, some of these are, in fact, highly related in their [[genotype|root cause]] despite the widely-varying set of medical [[phenotype|symptoms]] that are clinically visible in the [[Disorder (medicine)|disorders]]. Agenesis of the corpus callosum is one such disease, part of an [[emergence|emerging]] class of diseases called [[ciliopathy|cilopathies]]. The underlying cause may be a dysfunctional molecular mechanism in the primary [[cilia]] structures of the [[Cell (biology)|cell]], [[organelle]]s which are present in many cellular types throughout the [[human]] body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often [[pleiotropic|multi-symptom]] nature of a large set of syndromes and diseases. Known ciliopathies include [[primary ciliary dyskinesia]], [[Bardet-Biedl syndrome]], [[polycystic kidney disease|polycystic kidney]] and [[polycystic liver disease|liver disease]], [[nephronophthisis]], [[Alstrom syndrome]], [[Meckel-Gruber syndrome]] and some forms of [[retinopathy|retinal degeneration]].<ref>{{cite journal | |||
| last = Badano | |||
| first = Jose L. | |||
| authorlink = | |||
| coauthors = Norimasa Mitsuma, Phil L. Beales, Nicholas Katsanis | |||
| title = The Ciliopathies: An Emerging Class of Human Genetic Disorders | |||
| journal = Annual Review of Genomics and Human Genetics | |||
| volume = 7 | |||
| issue = | |||
| pages = 125-148 | |||
| publisher = | |||
| location = | |||
| date = September 2006 | |||
| url = http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610 | |||
| doi = 10.1146/annurev.genom.7.080505.115610 | |||
| id = | |||
| accessdate = 2008-06-15}}</ref> | |||
=== Other Associated Syndromes and Conditions === | |||
Some syndromes that frequently include ACC are Aicardi syndrome, Andermann's syndrome, Shapiro's syndrome, Acrocallosal syndrome,[[septo-optic dysplasia]], [[Mowat-Wilson syndrome]] and [[Menkes syndrome]]. Some conditions that are sometimes associated with ACC include maternal nutritional deficiencies or infections, metabolic disorders, [[Fetal alcohol syndrome]], and orofacial abnormalities. [http://www.umaine.edu/edhd/research/accnetwork/whatisacc.htm] | |||
== Signs and symptoms == | == Signs and symptoms == | ||
Signs and symptoms of Agenesis of the Corpus Callosum and other callosal disorders vary greatly among individuals. However, some characteristics common in individuals with callosal disorders include vision impairments, low muscle tone ([[hypotonia]]), poor [[motor coordination]], delays in motor milestones such as sitting and walking, low perception of pain, delayed toilet training, chewing and swallowing difficulties, early speech and language delays, and social difficulties. Recent research suggests that specific social difficulties may be a result of impaired [[face perception|face processing]].[http://emotion.caltech.edu/agcc/] Unusual social behavior in childhood is often mistaken for or misdiagnosed as [[Asperger's syndrome]] or other [[autism spectrum disorders]]. Other characteristics sometimes associated with callosal disorders include [[seizures]], [[spasticity]], early feeding difficulties and/or gastric reflux, hearing impairments, abnormal head and facial features, and mental retardation.[http://www.umaine.edu/edhd/research/accnetwork/whatisacc.htm] | Signs and symptoms of Agenesis of the Corpus Callosum and other callosal disorders vary greatly among individuals. However, some characteristics common in individuals with callosal disorders include vision impairments, low muscle tone ([[hypotonia]]), poor [[motor coordination]], delays in motor milestones such as sitting and walking, low perception of pain, delayed toilet training, chewing and swallowing difficulties, early speech and language delays, and social difficulties. Recent research suggests that specific social difficulties may be a result of impaired [[face perception|face processing]].[http://emotion.caltech.edu/agcc/] Unusual social behavior in childhood is often mistaken for or misdiagnosed as [[Asperger's syndrome]] or other [[autism spectrum disorders]]. Other characteristics sometimes associated with callosal disorders include [[seizures]], [[spasticity]], early feeding difficulties and/or gastric reflux, hearing impairments, abnormal head and facial features, and mental retardation.[http://www.umaine.edu/edhd/research/accnetwork/whatisacc.htm] | ||
== | == Diagnosis == | ||
Callosal disorders can only be diagnosed through a brain scan. [http://www.nodcc.org/what_is_a_callosal_disorder.php] They may be diagnosed through an [[MRI]], [[CT Scan]], prenatal ultrasound, or prenatal MRI. [http://www.umaine.edu/edhd/research/accnetwork/whatisacc.htm] | |||
==Diagnostic Findings== | ==Diagnostic Findings== | ||
Revision as of 13:14, 12 April 2009
| Agenesis of the corpus callosum | |
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| Fetal MRI: Agenesis of the corpus callosum. Image courtesy of RadsWiki | |
| OMIM | 217990 |
| DiseasesDB | 29900 |
| eMedicine | radio/193 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Agenesis of the Corpus Callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum. Agenesis of the corpus callosum occurs when the corpus callosum, the band of tissue connecting the two hemispheres of the brain, does not develop typically in utero. In addition to agenesis of the corpus callosum, other callosal disorders include hypogenesis (partial formation), dysgenesis (malformation) of the corpus callosum, and hypoplasia (underdevelopment) of the corpus callosum. [3]
Cause
Agenesis of the Corpus Callosum is caused by disruption to development of the fetal brain between the 5th and 16th week of pregnancy.[4] In most cases, it is not possible to know what caused an individual to have ACC or another callosal disorder. However, research suggests that some possible causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders. [5]
Relation to other rare disorders: genetic ciliopathy
Until recently, the medical literature did not indicate a connection among many genetic disorders, both genetic syndromes and genetic diseases, that are now being found to be related. As a result of new genetic research, some of these are, in fact, highly related in their root cause despite the widely-varying set of medical symptoms that are clinically visible in the disorders. Agenesis of the corpus callosum is one such disease, part of an emerging class of diseases called cilopathies. The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.[1]
Other Associated Syndromes and Conditions
Some syndromes that frequently include ACC are Aicardi syndrome, Andermann's syndrome, Shapiro's syndrome, Acrocallosal syndrome,septo-optic dysplasia, Mowat-Wilson syndrome and Menkes syndrome. Some conditions that are sometimes associated with ACC include maternal nutritional deficiencies or infections, metabolic disorders, Fetal alcohol syndrome, and orofacial abnormalities. [6]
Signs and symptoms
Signs and symptoms of Agenesis of the Corpus Callosum and other callosal disorders vary greatly among individuals. However, some characteristics common in individuals with callosal disorders include vision impairments, low muscle tone (hypotonia), poor motor coordination, delays in motor milestones such as sitting and walking, low perception of pain, delayed toilet training, chewing and swallowing difficulties, early speech and language delays, and social difficulties. Recent research suggests that specific social difficulties may be a result of impaired face processing.[7] Unusual social behavior in childhood is often mistaken for or misdiagnosed as Asperger's syndrome or other autism spectrum disorders. Other characteristics sometimes associated with callosal disorders include seizures, spasticity, early feeding difficulties and/or gastric reflux, hearing impairments, abnormal head and facial features, and mental retardation.[8]
Diagnosis
Callosal disorders can only be diagnosed through a brain scan. [9] They may be diagnosed through an MRI, CT Scan, prenatal ultrasound, or prenatal MRI. [10]
Diagnostic Findings
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Fetal MRI: Agenesis of the corpus callosum
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Fetal MRI: Agenesis of the corpus callosum
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Fetal MRI: Agenesis of the corpus callosum
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Fetal MRI: Agenesis of the corpus callosum
Treatment
There are currently no specific medical treatments for callosal disorders, but individuals with ACC and other callosal disorders may benefit from a range of developmental therapies, educational support, and services. It is important to consult with a variety of medical, health, educational and social work professionals. Such professionals include neurologists, neuropsychologists, occupational therapists, physical therapists, speech-language pathologists, pediatricians, geneticists, special educators, early intervention specialists, and adult service providers. [11]
Prognosis
Prognosis varies depending on the type of callosal abnormality and associated conditions or syndromes. It is not possible for the corpus callosum to regenerate or degenerate (i.e., the corpus callosum will not regrow or diminish). [12]. Although some individuals with callosal disorders have average intelligence and lead normal lives, neuropsychological testing reveals subtle differences in higher cortical function compared to individuals of the same age and education without ACC.
External links
Support organisations:
- The ACC Network International network to provide information and a communication link for individuals with brain anomalies involving the corpus callosum, their families and the professionals who work with them.
- National Organization of Disorders of the Corpus Callosum Non - profit US organisation offering information and support.
- Corpal UK charity offering support to families caring for children with ACC.
- Agenesis of the Corpus Callosum Community A site with message boards for discussing ACC.
- ACC page from Contact a Family UK charity providing support and advice to families with disabled children or those with special needs.
- Aicardi Syndrome Foundation Support and information for families caring for children with Aicardi Syndrome.
- UCSF Fetal Treatment Center: Agenesis of the corpus callosum
- ↑ Badano, Jose L. (September 2006). "The Ciliopathies: An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics. 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. Retrieved 2008-06-15. Unknown parameter
|coauthors=ignored (help)