What happens if tuberous sclerosis grows

Although the incidence of tuberous sclerosis is relatively low, once it occurs, it is extremely harmful to the patient. This is a chromosomal dominant genetic disease. If the disease gradually develops into hardening, the harm to the patient may gradually increase. It can cause depigmentation spots on the skin and angiofibromas on the face. It is also very harmful to the kidneys and can easily lead to renal failure.

What happens if tuberous sclerosis grows

Cardiac manifestations and symptoms in the fetal or newborn period: fetal systemic edema with ascites, arrhythmia, heart failure, ultrasound examination of the heart shows single or multiple cardiac rhabdomyomas. If the patient survives, the heart symptoms and cardiac rhabdomyomas will improve and disappear with age. But there are also patients who have cardiac myoma but have no heart symptoms.

1. Skin manifestations and symptoms:

There are multiple hypomelanotic macules on the body in early childhood. In childhood, angiofibroma (acne-like bumps) gradually appear on the cheeks, and there are shagreen patches on the forehead and the sides of the trunk. In adulthood, there may be periungal fibroma.

2. Kidney manifestations and symptoms:

Renal failure is the main cause of death in patients with sarcoidosis. 80% of kidney diseases are caused by renal angiomyolipoma (AML), 15% by simple renal cysts (renal cyst), 5% by multiple cysts (polycystic kidney disease), and a small number (3%) will be complicated by renal cancer. Renal angiomyolipomas grow larger with age and can grow rapidly during childhood or adolescence. Large renal angiomyolipomas (especially those larger than 4 cm) are prone to rupture due to their rich blood vessels or hemangiomas, which can manifest as acute abdominal pain and shock. The renal lesions of tuberous sclerosis can also lead to hypertension and chronic renal failure. However, there are also patients who have small renal angiomyolipomas in their kidneys and have no symptoms.

3. Brain manifestations and symptoms:

Lesions include cortical nodules (?90?%), radial transition lines in the white matter (?80?%), subependymal nodules (90%), and subependymal giant cell astromas (20%). Director Huang Chaoqing said that the brain symptoms include epilepsy, autism, learning disabilities, ADHD and abnormal behavior. Their mental performance varies greatly, and they can have severe mental retardation or normal mental state. The earlier epilepsy (60-70%) occurs or the more stubborn it is, the greater the impact on the mind. In early childhood, it may manifest as nodding convulsions. The anti-epileptic drug Vigabatrin has a good effect in treating nodding convulsions in infants. Subventricular giant cell astrocytoma can appear in childhood or adolescence. If combined with subventricular giant cell astrocytoma, the patient may suffer from symptoms such as headache, blurred vision, cognitive decline, increased spasms, and even death due to hydrocephalus. Although patients with tuberous sclerosis may have cortical nodules and subependymal nodules on brain MRI scans, they may also have no brain symptoms at all.