Tuberous sclerosis

Introduction to tuberous sclerosis Most of the nodular sclerosis is autosomal dominant, with seizures, mental disorders and facial paralysis as its three characteristics. It usually starts before the age of 10, and gliosis and hyperplasia of the gliosis occur in the cerebral cortex and base. Section, ventricle wall. The disease belongs to chromosomal diseases, and the cause of chromosomal abnormalities is unclear. It may have certain correlation with environmental factors, genetic factors, dietary factors, and mood and nutrition during pregnancy, so this disease cannot be directly prevented. Early detection, early diagnosis, and early treatment are important for preventing this disease. Regular examination should be done during pregnancy. If the child has a tendency to develop abnormalities, chromosome screening should be done in time, and abortion should be performed in time to avoid the birth of the diseased child. basic knowledge The proportion of illness: 0.0016% Susceptible people: more than 10 years old before the onset Mode of transmission: mother-to-child transmission Complications: heart failure

Cause of tuberous sclerosis

It is known that both genes of TSC are tumor suppressor genes whose function is to regulate cell growth and differentiation. When two genes are mutated, they are out of control of cell growth regulation, resulting in tumor formation, and some TSC patients with hamartoma Loss of heterozygosity is shown, and the 9q34 or 16p13 markers in TSC patients are heterozygous, but homozygous in tumors, and loss of heterozygosity indicates that TSC patients are caused by genetic or early embryonic genetic mutations. A gene copy is absent and only occurs when there is a somatic mutation in a previously normal copy.

Nodular sclerosis prevention

The disease belongs to chromosomal diseases, and the cause of chromosomal abnormalities is unclear. It may have certain correlation with environmental factors, genetic factors, dietary factors, and mood and nutrition during pregnancy, so this disease cannot be directly prevented. Early detection, early diagnosis, and early treatment are important for preventing this disease. Regular examination should be done during pregnancy. If the child has a tendency to develop abnormalities, chromosome screening should be done in time, and abortion should be performed in time to avoid the birth of the diseased child.

Nodular sclerosis complications Complications heart failure

About 30-60% of patients may have eye damage, retinal lens tumors are the most characteristic, and some may be associated with kidney tumor or myocardial damage, often died in early years due to heart failure.

Symptoms of tuberous sclerosis common symptoms red or purple, slightly... papular retinal hemorrhage optic atrophy

Epilepsy, mental retardation and special facial paralysis are three diagnostically significant symptoms that can be differentiated from other diseases that can cause epilepsy and mental disorders in infants and young children. Cranial plaques or CTs distributed around the ventricles are seen on the skull. It can be confirmed that the subventricular subdural nodules of the ventricle wall can be diagnosed.

1. There are four characteristic damages to the skin:

(1) Facial angiofibroma, once known as Pringle sebaceous adenoma, lesions are often placed in the nasolabial fold, both sides of the nose, often 1 to 10mm tough, scattered yellowish or reddish telangiectasia papules.

(2) Periorbital fibroids (Koenen's tumor), which grows bright red and tough keloid-like neoplasms from the nail wrinkles, about 5 to 10 mm or more.

(3) The skin of the squid is fast, often with an irregular thickening at the lumbosacral region and a slightly higher surface wrinkling soft spot.

(4) Leaf-like depigmentation, which is oval-shaped, strip-like leaf-like hypopigmentation.

2. Mental decline.

3. Epilepsy.

Due to the high cost of gene mutation analysis, many gene mutations can not be used as routine examinations. At present, the diagnosis of TSC relies mainly on the comprehensive judgment of clinical manifestations. The clinical manifestations can vary greatly. The key to diagnosis is to increase vigilance. The traditional clinical mainstays Secondary diagnostic criteria have been replaced by methods for the analysis of hamartomas. The discovery of two or more independent hamartomas strongly supports the diagnosis of TSC, and a single hamartoma patient may also pass through a cell in the organ. Random two somatic mutations are formed, but if there is no genetic or early embryonic mutation, it is impossible to occur twice in different organs of the same individual. Clinically, two hamartomas are usually easily found in affected individuals. In the absence of other TSC evidence, angiomyolipoma and pulmonary lymphangioma must be considered interdependent hamartomas because they often occur together and must undergo a comprehensive clinical examination, including fundus examination and cranial MRI. Kidney imaging, although helpful, is more likely to cause confusion, so it is not recommended, echocardiography Useful for young children, other features, such as melanin spots, etc., should be seen as indications need further examination, rather than as a credible signs of TSC, non-invasive no longer think it will happen.

Nodular sclerosis examination

1. In the skull X-ray film, 50-70% of patients can see intracranial calcification, CT scan shows increased density around the ventricles, and multiple scattered nodular shadows.

2. EEG showed a wave of attack and high amplitude.

Diagnosis of nodular sclerosis

Different from epilepsy, simple epilepsy has no skin damage and no mental disorder, which can be identified according to clinical symptoms.

Skin symptoms should be distinguished from the following:

1. Acne vulgaris: blackheads, pustules, and inflammatory papules. Most patients lose symptoms after puberty and disappear.

2. Epithelioma adenoides cysticum: a multi-issue, symmetrical, normal skin-colored tough papule or small nodule that occurs on the face and is characterized by a symmetric distribution along the nasolabial fold, but some occur in the amount , eyelids and upper lip, no mental retardation.

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