Tuberous sclerosis

Introduction to tuberous sclerosis Tuberous sclerosis (also known as nodular sclerosis, Bourneville disease). The disease can be classified as neurocutaneous syndrome (also known as cantharichomal hamartoma), which is caused by abnormal development of organs in the ectoderm. The lesions involve the nervous system, the skin and the eyes, and may also involve the mesoderm. Embryonic organs such as heart, lung, bone, kidney and gastrointestinal. Clinical features are facial sebaceous adenomas, seizures, and decreased intelligence. basic knowledge The proportion of illness: 0.001% Susceptible people: infants and young children Mode of transmission: mother-to-child transmission Complications: insomnia, cataract, retinitis, optic atrophy, renal tumor

Cause of tuberous sclerosis

Genetic factors (90%)

The disease is a genetic disease, which can be divided into four types according to gene location: TSC1, TSC2, TSC3, TSC4. Mutations in TSC1 and TSC2 cause dysfunction of hamartin and tuberin, respectively, affecting their cell differentiation and regulation functions, leading to abnormal growth and differentiation of ectoderm, mesoderm and endoderm cells. The genetic pattern is autosomal dominant, and the familial case accounts for about one-third, that is, the TSC1 or TSC2 gene that is inherited by one parent; the sporadic case accounts for about two-thirds, that is, the patient carries a new mutation at birth. There is no family member with the TSC1 or TSC2 gene. TSC1 mutations are more common in familial patients, while TSC2 mutations are more common in sporadic patients.

Nodular sclerosis prevention

There is no special precautionary measure for this disease, and early detection and early diagnosis are the key. Seizures should be actively controlled. Treatment of the same intracranial tumor with the same brain tumor. If the proband has no clear family history, it is recommended that the parents perform skin, retina, brain imaging, and renal ultrasonography. The risk of the proband's siblings depends on whether their parents are patients. In the case of a patient, the risk of illness is 50%; if the parents do not find it, the risk of the sibling's siblings is 1-2% due to the presence of germ cell chimerism. The risk of a child of the proband is 50%. The likelihood of other family members becoming ill depends on whether the proband's parents are patients, and the family members of the parents are also at risk.

Nodular sclerosis complications Complications, insomnia, cataract, retinitis, optic atrophy, renal tumor

About 30-60% of patients may have eye damage, retinal lens tumors are the most characteristic, a few can suddenly insomnia; a few patients with exophthalmos, cataract, retinitis pigmentosa, retinal hemorrhage and primary optic atrophy, a small number of patients It can also be associated with visceral tumors, with kidney tumors being the most common, followed by rhabdomyosarcoma, in addition to bone lesions.

Symptoms of tuberous sclerosis Common symptoms Intelligent reduction of chest papules Epilepsy and epileptic seizures Psychiatric disorders Pap optic atrophy Retinal hemorrhage Insomnia red or purple, slightly...

1. Skin damage: the most common, has diagnostic significance, 80-100% of patients have sebaceous adenoma, often appear in 4-5 years old, puberty is significant, pink or light brown red papules, according to which fade, hard texture It is distributed in the shape of a butterfly on both sides of the nose. Occasionally, the face is scattered and scattered. 20% of the patients can see the body carp skin, and sometimes the nail is found.

2. Epilepsy: Most cases occur within 2-3 years of age, which can occur before skin damage and intracranial calcification. People with intellectual disabilities have almost all kinds of seizures, and some patients can only have seizures.

3. Mental disorders: 60-70% of patients have different degrees of mental retardation, the earlier seizures, the more mental retardation, a small number of patients can behave behavior, personality abnormalities.

4. Other performance: about 30-60% of patients may have eye damage, retinal lens tumor is the most characteristic, a few can suddenly insomnia; a few patients exophthalmia, cataract, retinitis pigmentosa, retinal hemorrhage and primary optic nerve Atrophy, etc., a small number of patients can also be associated with visceral tumors, with kidney tumors most common, followed by rhabdomyosarcoma, in addition to bone lesions.

Examination of tuberous sclerosis

1. Cranial CT or MRI: plain scan can reveal multiple nodular or low-density lesions on the surface of the subventricular ventricle and cerebral cortex. Some nodules can show high-density calcification, which is bilateral and multiple-enhanced. Enhanced, nodules are clearer, and nodules that cannot be displayed by a flat scan can be found. Cortical and cerebellar nodules have a definite diagnosis.

2, EEG: visible high amplitude loss and various epileptic waves.

3, cerebrospinal fluid: normal.

4, abdominal ultrasound: visible renal angiomyolipoma, renal cysts, polycystic kidney disease.

5, echocardiography: neonatal and infants are easy to find cardiac rhabdomyosarcoma, the tumor in the first three years of small process is significant, adulthood gradually disappears, so the detection rate of older children and adults is low.

6, ECG: can be found arrhythmia, common pre-excitation syndrome.

7, chest X-ray: can be found in the lung hamartoma, pneumothorax and other diseases.

Diagnosis and diagnosis of tuberous sclerosis

diagnosis

Diagnosis can be based on medical history, clinical symptoms, and laboratory findings.

Differential diagnosis

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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