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Introduction
This is a disorder that is genetically inherited. There is increased rate of growth for all those who are suffering from this disease. The excess growth is only in the first two to three years after birth. The main disorders that come with this illness include:
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Having a retard mind (autism),
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The motors are delayed,
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Cognitive,
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The muscle tone can be low
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They have speech impairment
The children affected by this disease tend to be larger at birth than normal. This is because they are taller, much heavier and their heads are larger. There are many signs of this disorder though they vary from one child to the other.
The occurrence of Sotos syndrome is a sporadically occurring case and sometimes family cases. It is almost similar to the weaver syndrome.
Epidemiology:
They are not that common. According to researches there is one birth with the Sotos syndrome in every 14,000 births.
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Causes & Risk factors
The main cause of this defect is the presence of too much hormone which is used for growth. This occurs if the hormone is released into a tumour which is non cancerous and is in the pituitary gland.
There are some other causes of the cerebral gigantism. They include:-
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Having a complex Carney
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The McCune-Albright syndrome (MAS)
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Multiple endocrine neoplasia type1 (MEN-1)
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Neurofibromatosis
Sometimes the growth hormone acts on a bone that has already stopped growth. This condition is usually called the acromegaly. | |
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Symptoms and signs
The main characteristic of this defect is growth at a higher rate and the bones being more advance than normal. Children or infant affected with the defect tend to be taller than those of the same age set. They usually have larger heads too.
They have many complications like:
Impairment in their intellectual
Hypotonia – this is a defect in the muscle tone. The muscles of those affected are weak hence they are unable to perform skills needed to motor like sitting and crawling,
Language impairment – this includes:-
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Problems with producing sound
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Stuttering
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Having a monotone voice
Problems with their behavior. The issue with the behavior leads to some other issues like:
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Attention deficit hyperactivity disorder
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Having many phobias
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Obsessions and compulsions
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Their behavior is passive
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Constantly throwing tantrums
The other common signs of cerebral gigantism are:-
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The spine having an abnormal curvature side-to-side.
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Constant seizures
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Defects of the heart and kidney
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Loss of the sense of hearing
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Vision problem
Some have:
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Their skins turning yellow
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Their eyes being white
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Poor feeding habits
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Developed cancer
The symptoms of the disease vary if the effected is an adult. They include:-
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They delay to reach puberty
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They have a bad vision. Their sight is double and have difficulties while viewing the side (peripheral)
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They have a prominent jaw, and the bossing is frontal
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Constant headaches
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They have increase sweat rate
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Their menstruations are irregular
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Their hands and legs are large and the toes and fingers are thick.
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They release breast milk
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The facial features are thickened
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They are naturally weak
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Diagnosis
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There are some tests that can be done to diagnose a person if they have the following defect.
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Undertaking a CT or an MRI scan can help the medical practitioner see if there is a tumour in the pituitary.
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An experiment can be done on you. After taking an oral glucose challenge, they measure the amount of serum growth hormone. If you were not able to suppress it, it means you have the disorder.
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High levels of prolactin in the body are also another diagnostic method used by medical practitioners.
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The increase on insulin level is also a sign of having cerebral gigantism.
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All these diagnosis are derived from the fact that, the cancer of the pituitary gland is the main cause of the defect.
Differential Diagnosis:
Having a defective pituitary has effects on very many hormones they include:-
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Cortisol
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Estradiol which is found in girls only
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Testosterone in boys
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Thyroid hormones.
Through comparing the levels of these hormones we are able to determine if there is a problem with pituitary or not hence we get a reason to go and be diagnosed. | |
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Investigations
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It is diagnosed by clinical findings.
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Genetic Testing: Mutations in the gene NSD1 are confirmatory.
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CT and MRI of the Brain do not show definite changes except slight widening of the brain’s ventricles.
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Treatment
There is no known treatment for the defect. Depending on the symptoms being experienced the doctor will know the right treatment for the person. The main point while treating the defect is to remove the cancer in the pituitary gland which is the main cause of the defect.
Medical Treatment:
We use medication when surgery will not be able to completely remove the tumour. There are many types of medicine that a person can take. The most effective though are the somatostatin analogs. They include the octreotide and the lanreotide which are long lasting. These medication main functions are to reduce the levels of the growth hormones.
Surgical Treatment:
Surgery is used when the surgeon is sure that they have the ability to remove the whole tumour. | |
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Complications Of Disease
Some of the children who have suffered from the disorder have developed cancer. Studies have not been able to connect a specific cancer to this defect. If by any chance a person who is suffering from this disorder has a risk of getting cancer, they have no difference from those who are at no risk. | |
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Prognosis
Just like all other people, the people who are suffering from the Sotos syndrome have the same life expectancy. It is not life-threatening to the person. After a few years the rate of growth goes back to normal.
The delays during development can help you as you go through your school years. The only problem with the defect is that the coordination problems sometimes follow the patients till they are adults. | |
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References
http://www.gghjournal.com/volume22/3/featureArticle.cfm | |