[tri-med] Re: New to list...looking for options

<<Have you read anything on the corpus callosum?  I have tried to 
find info on this but the only thing it says is that it transfers 
information.  Annette is missing this part of her brain.  Also, I 
was told that she has damage to her basal ganglia.  They did not 
explain what that means.  They only said she would be a vegetable 
not knowing who I am.  They were wrong on that part.  Anyway, if 
you know anything more than that, I sure would like to know.>>

Annette,


Yes, the corpus callosum's function is to connect the hemispheres 
of the brain.  If it's missing then there's a break down in the
communication between the left & right side of the brain.

http://www.cafamily.org.uk/Direct/a27.html
AGENESIS OF THE CORPUS CALLOSUM 
Agenesis of the Corpus Callosum (ACC) is a rare neurological 
condition. The Corpus Callosum is a bridge of white matter 
joining the two cerebral hemispheres of the brain. It forms 
during the course of brain development. The frequency with 
which it fails to form is normally not known as its total or 
partial absence can only be demonstrated with brain imaging 
procedures and these will usually only be performed if 
individuals have neurological abnormalities. Hence there may 
well be many asymptomatic individuals with partial or complete 
callosal agenesis.

Moreover, callosal agenesis may be and often is associated 
with other developmental brain anomalies and it is often these, 
rather than the callosal agenesis itself, which is the cause of 
subsequent neurological disability.

The clinical manifestations are best described under two headings: 
syndromic and non-syndromic.

Non-syndromic are more common and affected patients usually present 
with a large head, seizures and developmental delay. Hypertelorism 
(widely spaced eyes) occurs in many also. Seizure control may be 
difficult to achieve. Although the head can be very large 
ventricular shunting procedures for hydrocephalus are not indicated 
or helpful.

Many neurological syndromes also include agenesis of the corpus 
callosum. All of these have additional brain malformations and 
affected individuals are usually severely disabled often with 
dysmorphic characteristics and global developmental delay. Often 
associated with other midline cerebral and cranial abnormalities 
such as septo-optic dysplasia, it is sometimes associated with 
pituitary dysplasia. Because of this fits are sometimes due to 
hypoglycaemia (growth hormone and cortisol deficiency) as well 
as due to structural brain abnormality

Inheritance patterns 
In the non-syndromic form of callosal agenesis genetic 
transmission is rare although there are a few autosomal 
recessive, X-linked and dominant cases on record. Genetic 
advice to affected individuals and their families can be 
helpful therefore. More frequently the non-syndromic form of 
callosal agenesis is an anomaly of brain development that is 
post conceptually determined, sometimes in association with 
chromosomal abnormalities.

In the syndromic form of callosal agenesis referral for precise 
neurological diagnosis is required. The majority of these 
syndromes do occur sporadically but these are occasional 
kindreds reported with familial incidence. Again dominant, 
X-linked and recessive disorders have been described whilst the 
Aicardi Syndrome is thought to result from an X-linked dominant 
mutation.

Pre-natal diagnosis 
Agenesis of the Corpus Callosum is undetectable through routine 
pre-natal tests. ACC may be detected with a scan at 18 weeks.

Medical text last updated December 2001 by Dr L Rosenbloom, 
Consultant Paediatric Neurologist, Alder Hey Children's 
Hospital, Liverpool, UK.

http://www.macomb.com/~mhs/basal.htm
Basal Ganglia

The basal ganglia consists of masses of subcortical grey matter 
deep within the cerebral hemispheres. Along with the cerebellum, 
the basal ganglia controls movement and posture, adjusting the 
body to do certain things, as well as inhibits unwanted movement. 
Lesions in the basal ganglia cause disturbances in motor activity. 
Information is sent from the motor cortex to the basal ganglia and 
is relayed back via the thalamus. Recent studies suggest that the 
basal ganglia contains five segregated circuits for different 
funtions of behavior. Each involves seperate regions within the 
basal ganglia and the thalamus. 

http://www.ets.uidaho.edu/med532/basal.htm
basal ganglia

In current usage, the phrase 'basal ganglia' means: the caudate 
nucleus, putamen and globus pallidus. They are functionally important, 
at a minimum, for controlling voluntary movements and establishing 
postures. When they are altered - say in disorders like Huntington 
disease or Wilson disease - the person has unwanted movements, such as 
involuntary jerking movements of an arm or leg or spasmodic movement 
of facial muscles. 

  Fawna Lockwood , mom of Thom 24, Lara 22, 
  Philina 19 (PT6p & Moya Moya Syndrome), 
  wife of Douglas, 7 =^..^='s, Bob & Jo the 
  African Leopard Tortoises, Dribble the 
  Musk Turtle, Paula, Chica & Carmelita the 
  llamas. Philina's Pharm Bengal Cattery,
  Escondido, California, USA
  http://members.aol.com/sorgl/famtoc4.htm
  http://www.chromodisorder.org/famtoc4.htm
  ~*~ ~*~ ~*~ ~*~ ~*~ ~*~ ~*~ ~*~ ~*~ ~*~
  Please Note:  No trees were destroyed
  in the sending of this contaminant
  free message.  We do concede, however,
  that a significant number of electrons
  may have regrettably been inconvenienced.
  ~*~ ~*~ ~*~ ~*~ ~*~ ~*~ ~*~ ~*~ ~*~ ~*~
                   



                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

Other related posts: