Pediatric tuberous sclerosis

Introduction to children with tuberous sclerosis Tuberous sclerosis, also known as Bourneville disease, was first described by Bourneville in 1880 for neurological symptoms and pathological changes. In 1908, Heinrich Vogt pointed out the triad of the disease, namely epilepsy, mental retardation and facial angiofibroma. basic knowledge Probability ratio: Susceptible people: children Mode of infection: non-infectious Complications: Acne

Causes of tuberous sclerosis in children

(1) Causes of the disease

The disease is an autosomal dominant genetic disease.

(two) pathogenesis

For autosomal dominant inheritance, Janes divides the pathogenic genes of tuberous sclerosis into TSC1 and TSC2, each causing half of tuberous sclerosis, but the genetic phenotypes of the two are identical, TSC1 gene mapping In 9q34.3, comprising 23 exons, wherein the first and second exon are non-coding regions, and the third to 23th exons are coding regions, and transcription starts from the 222th nucleotide. The gene product is hamartin; the TSC2 gene is located at 16P13.3, with 41 exons, and its gene product is Tuberin. It is known that TSC1 and TSC2 are tumor suppressor genes. Mutations include base deletions, insertions, missense replication, or formation of repetitive mutations, but no hotspots for gene mutations have been found so far, and the relationship between genotypes and phenotypes is also unclear.

Childhood tuberous sclerosis prevention

There is currently no specific treatment for this disease. Usually pay attention to diet control, eat more soy products, fresh fruits and vegetables, dairy products, and high protein and phospholipid-rich foods. Colleagues avoid fatigue and mental stimulation so as not to induce or worsen the disease. The patient can continue to work or study under the control of the drug without causing a psychological burden.

Children with tuberous sclerosis complications Complications

Visceral damage can also occur in the heart, kidney, lung, liver, thyroid, testis, digestive tract, etc.

Symptoms of pediatric tuberous sclerosis common symptoms coffee plaque pigmentation and hypopigmentation white birthmark epilepsy and epileptic seizure facial angiofibroma arrhythmia mental retardation dyspnea hemoptysis

Tuberous sclerosis is an autosomal dominant genetic disease with a positive family history of 20%-30%. The penetrance is variable.

The age of onset of the disease is earlier, and sometimes it can occur at birth, but it is not easy to detect. Typical triads are: facial angiofibroma, epilepsy, mental retardation, but only a small percentage of people with this triad. Other related symptoms include periungual fibroids, shark skin plaques, hypopigmentation spots, cutaneous fibroids, and coffee spots.

Skin symptoms

Typical skin changes include leafy depigmentation, facial angiofibroma and shark skin plaques, periungual fibroids, and the like.

Facial angiofibroma is characteristic. It used to be called sebaceous adenoma. It is not a sebaceous gland. It is composed of blood vessels and connective tissue. It is often yellow-red or bright red papules or nodules. It is translucent and has a smooth surface. It is generally not fused. Round or oval, 1 to 4 mm in diameter, symmetrically distributed on the forehead, nose and mouth, and the back of the nose can also appear. The rash appears as a large cauliflower mass. About 90% of patients over the age of 4 may have a facial rash that often persists and sometimes the number of rashes increases.

Periungual fibroma (Koenen's tumor), located around the nail and under the nail, like a small piece of meaty nodules. Can occur in 50% of patients, with bright red or reddish underarm or periungual fibroids, generally distributed asymmetric. Similar fibroids can also occur in the gums. More women than men, but rarely seen before puberty, multiple finger (toe) fibroids have diagnostic value for this disease.

The incidence of shark skin plaques in patients under 10 years old is about 40%, which occurs in the trunk, especially in the lumbosacral region. It is a soft yellow surface with a soft surface, such as shark skin, diameter 1~ 8cm, the essence of which is connective tissue.

Leaf-shaped depigmentation can be seen in more than 80% of patients, the number varies, usually at birth, or at 6 to 10 years old. Shaped like eucalyptus leaves or willow leaves, white, clear boundaries with the surrounding skin, mostly distributed in the trunk and limbs, rarely seen on the face, sometimes visible on the scalp, where the hair is white. Individual differences, or no discoloration spots, or as many as 10 pieces. Normal people can sometimes see 1-2 blocks, no diagnostic significance. Some patients can also see clusters, a few more, irregularly shaped, confetti-like small pieces of pigment loss spots. However, it should be distinguished from the general hypopigmentation spots, and the number of the latter is generally not more than three. Other rare skin manifestations include skin blemishes, soft fibroids, and coffee spots.

2. The nervous system

Common are epilepsy, mental retardation, and sometimes even hemiplegia or other localized neurological symptoms. 80%-90% of patients have epilepsy, often manifested as infantile spasm in infancy, and older children may present with complex partial seizures or other localized seizures, or generalized tonic-clonic seizures or Lemmox-Gastaut syndrome. About 605 patients have mental retardation, varying degrees of severity, mental retardation often coincides with epilepsy, and some patients have only convulsions and no mental retardation.

3. Other systems

The visceral damage of this disease may have cardiac rhabdomyomas, which may be manifested as arrhythmia or cardiac insufficiency; hematuria, back pain, retroperitoneal hemorrhage caused by renal cysts, but rare in children; lung damage can be manifested as difficulty breathing, suddenness Pneumothorax, hemoptysis, etc.; cysts can appear in the bones, but most of them are asymptomatic. Other tumors such as liver, thyroid, testis, digestive tract, etc. can also be seen.

Examination of pediatric tuberous sclerosis

1.CT and MRI

Computed tomography (CT) and intracranial magnetic resonance (MRI) have diagnostic value and can be found in many brain abnormalities, such as cerebral cortical nodules, common in the frontal and temporal lobes; subependymal nodules, mainly in the lateral ventricles and Around the ventricle; subependymal giant cell astrocytoma and white matter lesions.

2. EEG

EEG scans in patients with epilepsy can reveal abnormal discharges.

3. Histopathological observation

In most lesions, intradermal fibroblasts proliferate, collagen fibers proliferate, and telangiectasia expands or proliferates. The thickened collagen fibers are arranged in layers around the epidermal appendage. In addition to proliferating blood vessels and collagen fibers in the sebaceous adenoma, hair follicles and sebaceous glands atrophy, so the essence is angiofibroma that occurs in the hairy area. The typical manifestation of the brain is the subependymal nodules, often in the anterior horn of the lateral ventricle. Under the microscope, there are some hyperproliferative large astrocytes. The nodules have calcification tendency and the number varies. Some hard nodules can also be seen in the cerebral cortex, the color is gray, the surface of the brain is raised, the diameter is about 1-2cm, and the number is different. The microscopic nodules are glial, composed of some giant multinuclear astrocytes. These nodules can laminate the normal brain skin thin. Similar lesions can also be seen in the central gray matter, brain stem or cerebellum. Due to the different parts of the nodules, various neurological symptoms can be manifested clinically.

Diagnosis and diagnosis of tuberous sclerosis in children

diagnosis

Typical clinical manifestations, combined with CT or MRI scans and histopathology, are not difficult to diagnose.

Differential diagnosis

1. Facial angiofibroma and facial (nasal) fibrous papules of single angiofibroma, acne vulgaris, hair epithelial tumors, etc.

2. Patients with epilepsy should be distinguished from epilepsy caused by other causes, the former often have specific skin manifestations.

3. When doing brain CT, it should be differentiated from multiple diseases of multiple calcification in the brain.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.