Agenesis of the corpus callosum - wikipedia Agenesis of the corpus callosum Agenesis of the corpus callosum Specialty Neurology 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. It occurs when the corpus callosum, the band of white matter connecting the two hemispheres in the brain, fails to develop normally, typically during pregnancy. The fibers that would otherwise form the corpus callosum become longitudinally oriented along the ipsilateral ventricular wall and form structures called Probst bundles. In addition to agenesis of the corpus callosum, other callosal disorders include hypogenesis ( partial agenesis, usually referring to the length ), dysgenesis ( malformation ) and hypoplasia ( underdevelopment, usually referring to the thickness ) of the corpus callosum. Contents 1 Signs and symptoms 1.1 Associated syndromes and conditions 1.2 Partial agenesis of the corpus callosum 2 Causes 2.1 Relation to other rare disorders : genetic ciliopathy 2.2 Cocaine and other street drugs 3 Diagnosis 4 Treatment 5 Prognosis 6 Notable cases 7 Notes 8 External links Signs and symptoms MRI images of three patients in the sagittal plane. A and B : Complete agenesis of the corpus callosum. C : Complete agenesis of both the corpus callosum and the anterior commissure. Signs and symptoms of ACC 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, and chewing and swallowing difficulties. Laboratory research has demonstrated that individuals with ACC have difficulty transferring more complex information from one hemisphere to the other. They also have been shown to have some cognitive disabilities ( difficulty in complex problem solving ) and social difficulties ( missing subtle social cues ), even when their intelligence quotient is normal. Recent research suggests that specific social difficulties may be a result of impaired face processing. The unusual social behavior in childhood is often mistaken for or misdiagnosed as an autism spectrum disorder. 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 a mental handicap. Associated syndromes and conditions Some syndromes that frequently include ACC are Aicardi syndrome, Andermann syndrome, Shapiro syndrome, acrocallosal syndrome, septo - optic dysplasia ( optic nerve hypoplasia ), Mowat -- Wilson syndrome, John Sayden syndrome, Menkes syndrome, and L1CAM Syndrome. Some conditions that are sometimes associated with ACC include maternal nutritional deficiencies or infections, metabolic disorders, fetal alcohol syndrome, craniofacial abnormalities, and other oral and maxillofacial pathologies. Partial agenesis of the corpus callosum Corpus callosum length being shorter than normal, defined as below the 5th percentile. It has been shown that in fetuses with suspected partial agenesis of the corpus callosum, the corpus callosum length / fetus estimated fetal weight ratio charts can provide personalized evaluation of the corpus callosum development, adjusting the corpus callosum length to the fetus natural proportions. Causes Agenesis of the corpus callosum is caused by disruption to development of the fetal brain between the 3rd and 12th weeks of pregnancy. 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. 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 symptoms apparent on clinical examination. Agenesis of the corpus callosum is one such disease, part of an emerging class of diseases called ciliopathies. The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell organelles that 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, Alström syndrome, Meckel -- Gruber syndrome, and some forms of retinal degeneration. Cocaine and other street drugs In utero exposure to cocaine and other street drugs can lead to agenesis of corpus callosum. Diagnosis Callosal disorders can be diagnosed through brain imaging studies or during autopsy. They may be diagnosed through an MRI, CT scan, Sonography, prenatal ultrasound, or prenatal MRI. 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 and language pathologists, pediatricians, recreation therapists, music therapists, geneticists, social workers, special educators, early childhood intervention specialists, and caregivers for adults. 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. Neuropsychological testing reveals subtle differences in higher cortical function compared to individuals of the same age and education without ACC, although some individuals with callosal disorders have average intelligence and live normal lives. Notable cases Kim Peek, inspiration for the film Rain Man and renowned for his savant abilities, was born with agenesis of the corpus callosum, along with macrocephaly and damage to the cerebellum. Notes ^ Jump up to : `` ACC - What is agenesis of the corpus callosum ? ''. University of Maine. Retrieved April 11, 2010. ^ Jump up to : `` Agenesis of the Corpus Callosum ''. Travis Research Institute. Archived from the original on July 17, 2010. Retrieved April 11, 2010. Jump up ^ `` Corpus Callosum Research Program ''. California Institute of Technology. Archived from the original on 10 April 2010. Retrieved April 11, 2010. Jump up ^ Tsur, Abraham ; Weisz, Boaz ; Rosenblat, Orgad ; Shai, Daniel ; Derazne, Estela ; Stevenson, David K. ; Achiron, Reuven ; Eldad Katorza, null ( 2018 - 05 - 20 ). `` Personalized charts for the fetal corpus callosum length ''. The Journal of Maternal - Fetal & Neonatal Medicine : The Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians : 1 -- 151. doi : 10.1080 / 14767058.2018. 1479389. ISSN 1476 - 4954. PMID 29779410. ^ Jump up to : `` Corpus callosum disorders ''. National Organization for Disorders of the Corpus Callosum. Retrieved April 11, 2010. Jump up ^ Badano JL, Mitsuma N, Beales PL, Katsanis N ( 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. PMID 16722803. Jump up ^ Dominguez, R ; Aguirre Vila - Coro, A ; Slopis, JM ; Bohan, TP ( June 1991 ). `` Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs ''. American Journal of Diseases of Children. 145 ( 6 ) : 688 -- 95. PMID 1709777. Jump up ^ Martin GN, Carlson NR, Buckist W ( 2007 ). Psychology ( 3rd ed. ). London : Pearson Education Company. External links Classification OMIM : 217990 DiseasesDB : 29900 External resources eMedicine : radio / 193 Patient UK : Agenesis of the corpus callosum Congenital malformations and deformations of nervous system ( Q00 -- Q07, 740 -- 742 ) Brain Neural tube defect Anencephaly Acephaly Acrania Acalvaria Iniencephaly Encephalocele Chiari malformation Other Microcephaly Congenital hydrocephalus Dandy -- Walker syndrome other reduction deformities Holoprosencephaly Lissencephaly Microlissencephaly Pachygyria Hydranencephaly Septo - optic dysplasia Megalencephaly Hemimegalencephaly CNS cyst Porencephaly Schizencephaly Polymicrogyria Bilateral frontoparietal polymicrogyria Spinal cord Neural tube defect Spina bifida Rachischisis Other Currarino syndrome Diastomatomyelia Syringomyelia Retrieved from `` https://en.wikipedia.org/w/index.php?title=Agenesis_of_the_corpus_callosum&oldid=859228195 '' Categories : Congenital disorders of nervous system Corpus callosum Hidden categories : Infobox medical condition ( new ) Talk Contents About Wikipedia Català Deutsch Español Euskara Français Italiano 日本 語 Polski Português Türkçe 3 more Edit links This page was last edited on 12 September 2018, at 16 : 41 ( UTC ). 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Question: a child born with agenesis of the corpus callosum would have the most difficulty
Answer: transferring more complex information from one hemisphere to the other