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Agenesis of the corpus callosum, XYY syndrome, inability to walk, talk. Cause, future prospects, chances of detection during pregnancy?

My son has Agenesis of the Corpus Callosum and was also diagnosed with a XYY syndrome . I live in South Africa but at this stage I am in the dark as to what the cause could be as well as what to expect in future. My son is now 2 and a half but still cannot walk or talk. His mother now takes care of him on a permanent basis. I also would like to know whether this could have been detected during pregnancy.
Asked On : Sun, 3 Jun 2012
Answers:  2 Views:  246
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Pediatrician, Neurology 's  Response
CC agenesis is a wide spectrum disorder with wide variant presentations depending upon its absence or atrophy; I have a vast experience in diagnosing this condition with varying morbidity and in your case, there seems to be an association with chromosomal anomaly. Since the trigger for the formation of CC was not there, there could be associated developmental abnormalities of brain structure which results in delay in development and even seizures. Moreover, you have to get a base line endocrine work-up as well ophthalmology (vision) consultation because of its close association with mid-line structures. I would recommend for a physio-therapy as well occupational therapy at an earliest for him.
Answered: Wed, 29 Aug 2012
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General & Family Physician Dr. Pavan Kumar Gupta's  Response
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. 
Callosal disorders can be diagnosed only through a brain scan. They may be diagnosed through an MRI, CT scan, prenatal ultrasound, or prenatal MRI.
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.
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.
 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.
Prognosis  varies depending on the type of callosal abnormality and associated conditions or syndromes. It is not possible for the corpus callosum to regenerate (i.e., the corpus callosum will not regrow) although some individuals with callosal disorders have average intelligence and lead normal lives.
Answered: Sun, 3 Jun 2012
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