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How is Tuberous Sclerosis diagnosed?
See how Tuberous Sclerosis is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Tuberous Sclerosis
Several complementary diagnostic exams as ct Scan, US, MRI, blood testing
Posted Apr 2, 2019 by Marocas 870
mutation in tsc1-2 or also a random genetic variance which seems to occur no half the classes
Posted Jun 17, 2020 by Nick Fn Blum 2640
Translated from french
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The diagnosis of TSC is made primarily on clinical manifestations. Most often, this diagnosis is not very difficult because, in adulthood, 95 % of the people present warning signs. It may, however, be less easy in children, with events more discrete.
The additional tests are looking for signs to establish the diagnosis of STB and possibly a complication which will require monitoring or special care.
The examination of the skin under light Wood helps highlight the spots achromiques.
The fundus research phacomes retinal.
Ultrasound renal research angiomyolipomas, tumors and cysts of the kidneys. The cardiac ultrasound highlights of rhabdomyomes.
The brain scan or the magnetic resonance imaging (MRI) to look for intracranial lesions evocative as tubers cortical nodules subependymal of astrocytoma giant cell.
Finally, a ct scan of the lungs is advised to adulthood in all women with STB to search for the lymphangioleiomyomatosis (LAM).
The identification of the genetic abnormality is usually not necessary to establish the diagnosis of the disease, but it is useful and may be essential in some cases, particularly in the context of genetic counselling in the home of a couple in which one partner is suffering from STB.
The additional tests are looking for signs to establish the diagnosis of STB and possibly a complication which will require monitoring or special care.
The examination of the skin under light Wood helps highlight the spots achromiques.
The fundus research phacomes retinal.
Ultrasound renal research angiomyolipomas, tumors and cysts of the kidneys. The cardiac ultrasound highlights of rhabdomyomes.
The brain scan or the magnetic resonance imaging (MRI) to look for intracranial lesions evocative as tubers cortical nodules subependymal of astrocytoma giant cell.
Finally, a ct scan of the lungs is advised to adulthood in all women with STB to search for the lymphangioleiomyomatosis (LAM).
The identification of the genetic abnormality is usually not necessary to establish the diagnosis of the disease, but it is useful and may be essential in some cases, particularly in the context of genetic counselling in the home of a couple in which one partner is suffering from STB.
Posted Apr 7, 2017 by Guillaume 1085
Translated from spanish
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X seizures or angiomas on the face or organs
Posted Sep 19, 2017 by claudia 2020
Translated from spanish
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Today it is easier to diagnose ET, when I was small by most that my symptoms were very apparent at the level of a dermatologist does not know of this disease, when I was given the diagnosis of Moon me daughter was five months via ultrasound in your entire body, you first visualize the tumors in her heart and in her brain , at birth is visualized also their white spots typical of this disease, therefore I advise is to first go to a dermatologist since the skin tags are more apparent, and the neurologist and cardiologist if you notice any Abnormality in both the conduct of the individual, such as signs of immaturity or episode of seizures
Posted Oct 3, 2017 by PAOLA 2500
Translated from spanish
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To detect at a very early age it is better to a neoropediatra, they do test such as electroencephalogram, tomografias in the brain is what helped me to detect my that my baby has ET + spots on the skin
Posted Oct 11, 2017 by RolenMan 3120
