Pediatric Neurocutaneous Syndrome
Introduction
Introduction to Pediatric Neurocutaneous Syndrome Neurocutaneous syndrome (neurocutaneous syndrome) is a group of dysplasia of tissues and organs originating from the ectoderm, especially skin, nerve and eye abnormalities, sometimes involving mesoderm and endoderm, affected organ systems, clinical manifestations There are many kinds of syndromes, and the syndrome can be divided into more than 40 kinds. basic knowledge The proportion of children: the incidence rate of children under 6 years old is about 0.04%-0.07% Susceptible people: children Mode of infection: non-infectious Complications: anemia, hypertension, dyskinesia
Cause
Pediatric neurocutaneous syndrome
Causes:
The etiology of neurocutaneous syndrome is unclear and may be related to some variation in early embryonic development because neurofibroma comes from the ectoderm.
Pathogenesis
In the early stage of embryonic development, the ectoderm cells in the dorsal midline of the embryo gradually thicken and form a neural plate. At the second week of the embryo, the sides of the nerve plate bulge to the dorsal side to form a neural crest, and the middle depression forms a neural tube and a neural tube. Later, it develops into the brain, spinal cord and other nerve tissues. The ectoderm on the surface of the embryo is derivatized into skin and other tissues. In the early pregnancy, the cells proliferate and become active, and some abnormalities appear in the ectoderm, so that the neurocutaneous skin shows lesions after birth.
Prevention
Pediatric neurocutaneous syndrome prevention
The cause is unclear and there are no systematic preventive measures.
Complication
Pediatric neurocutaneous syndrome complications Complications, anemia, hypertension, dyskinesia
Anemia, weight loss, high blood pressure, and movement disorders can occur. Transfer can occur.
Symptom
Pediatric neurocutaneous syndrome symptoms Common symptoms Facial angiofibroma intelligently reduce epilepsy and epileptic seizures
First, neurofibromatosis
Neurofibromatosis type I: This disease is an autosomal dominant genetic disease with clinically significant skin manifestations.
1. Cerebellum and spine manifestations: low-grade astrocytoma, hamartoma, spine and peripheral plexiform neurofibroma.
2, skull lesions: sphenoid wing big insufficiency and so on.
3, eye performance: optic glioma, bovine eye, plexiform neurofibroma.
4, vascular disease: progressive cerebral artery occlusion, aneurysm, arteriovenous fistula and so on.
5, other non-neurological diseases: visceral and endocrine tumors, musculoskeletal lesions.
Neurofibromatosis type II: The disease is central neurofibromatosis, autosomal dominant inheritance, skin manifestations are rare, and 100% have central nervous system lesions.
1. Brain: bilateral acoustic neuroma, multiple meningiomas and non-neoplastic choroid plexus calcification.
2. Spinal column: bilateral multi-segment fusiform schwannomas, spinal ependymoma and astrocytoma.
Second, tuberous sclerosis
Tuberous sclersis (TS), also known as Bourneville disease, has a prevalence of about 0.5/100,000 to 10/10 million. It is autosomal dominant and has sporadic cases. The genotype has at least type 2 (TSC1, 9q34; TSC2, 16p13). The clinical manifestations are mainly facial angiofibroma, seizures and mental decline.
1. Neurological symptoms Seizures are the main manifestations of this disease, more than childhood onset, about 80% to 90% of the knot
Patients with sclerosis have this symptom. Seizures are diverse in form and can present infantile spasms, complex partial seizures, and generalized tonic-clonic seizures. About 60% of patients with tuberous sclerosis have mental retardation and mental decline, which is one of the three major signs of this disease, often accompanied by seizures. When nodular lesions block the cerebrospinal fluid pathway, it may cause hydrocephalus or increased intracranial pressure. Nodular lesions in the cerebral cortex can cause monoterpene and hemiplegia.
2, skin symptoms facial angiofibroma (angiofibfromas). It is a unique sign for this disease. In the past, sebaceous adenomas were not actually adenoids. They were composed of blood vessels and connective tissues. The color was reddish brown or consistent with the skin color and raised from the skin. It has a papular shape or a small plaque, with a smooth surface and no exudation or secretion. It is distributed around the nasolabial fold and is butterfly-like. It is found in 80% to 100% of patients with tuberous sclerosis. Also. About 90% of patients with tuberous sclerosis can develop skin pigmentation spots (also known as eucalyptus leaves) at birth. About 20% to 50% of patients with tuberous sclerosis may have shark skin spots, which are seen on the sides or back. About 20% of children with tuberous sclerosis have multiple nail fibroids, and with age, about 88% of patients with tuberous sclerosis can see nail tumors.
3, other symptoms about 61% of patients with tuberous sclerosis associated with kidney disease, such as angiomyoli-pomas or renal cysts, occasionally kidney cancer. Among them, renal cysts are common in patients before the age of 5, and renal angiomyolipoma is more common with age. Others may be accompanied by retinal mulberry astrocytoma, olfactory nerve or cardiac hamartoma.
Third, brain trigeminal angiomatosis
Also known as cerebral hemangiomatosis, it is a rare neurocutaneous syndrome characterized by facial and intracranial hemangiomatosis. It is a special type of cerebral vascular malformation and a kind of hamartoma. . Typical clinical manifestations are one-side facial sputum (naeus flammeus, NF), epilepsy (EP), and ipsilateral glaucoma. Atypical people can be missing one or two. EP, mental decline, hemiplegia and hemianopia are the main neurological manifestations of trigeminal hemangiomas.
Examine
Pediatric neurocutaneous syndrome examination
Choose ESR, alkaline phosphatase, immunoglobulin, blood electrolyte, alpha-fetoprotein, cerebrospinal fluid and other tests.
According to the clinical selection of X-ray, B-ultrasound, brain CT, EEG, urography and other examinations.
Diagnosis
Diagnosis and diagnosis of pediatric neurocutaneous syndrome
Identification of various different symptoms.
