Pediatric Pyramidal Dysfunction Syndrome

Introduction to Pediatric Condyle Dysfunction Syndrome Condyloma dysfunction syndrome (conedysfunctionsyndrome), also known as congenitalachromatopsia, is a comprehensive symptom characterized by congenital color blindness, amblyopia, shame, and nystagmus. Infancy is often neglected, mostly in early childhood. Parents are aware of clinically often misdiagnosed as optic atrophy, macular degeneration, congenital nystagmus, amblyopia and snoring, and nystagmus and photophobia are found several months after birth. basic knowledge Sickness ratio: 0.0001% Susceptible people: children Mode of infection: non-infectious Complications: dyskinesia

Causes of pediatric pyramidal dysfunction syndrome

(1) Causes of the disease

The cause of pyramidal dysfunction syndrome is unknown.

(two) pathogenesis

The pathogenesis of pyramidal dysfunction syndrome remains to be explored. According to Larsen, the morphology of the pyramidal area of the patient has changed, and the total number of cones in the entire retina is not abnormal. Harrison's retinal histological observation of a dead patient reveals its retina. The outer nuclear layer is thin, the number of cones is reduced, and the number of cones in the central fossa of the macula is less. Some people think that this disease is not an abnormality in the number of cones or morphology, but an abnormality in the color of the cone, and some people think that the disease Only rod cells or cone cells exist but have no function. These theories lack accurate data. About half of the patients have a family history. Most of them are considered autosomal dominant and may be partially sexually inherited.

Prevention of pediatric pyramidal dysfunction syndrome

Prevention of dyskinesia with a genetic background is even more important. Preventive measures include avoiding the marriage of close relatives, conducting genetic counseling, genetic testing of carriers, prenatal diagnosis and selective abortion to prevent the birth of children. Early diagnosis, early treatment, and intensive clinical care are important for improving the quality of life of patients with dyskinesia.

Complications of pediatric pyramidal dysfunction syndrome Complications

Difficulties in movement due to poor eyesight and color vision disorders.

Complications: The ability to self-care is significantly reduced. Some dyskinesias are accompanied by mental retardation and/or mental behavior disorder.

Symptoms of pediatric pyramidal dysfunction syndrome Common symptoms Abrasive visual field of vision changes nystagmus is unclear to red-green color

Vision

Under general illumination, the visual acuity is about 0.1, which is about the visual function level of the rod. The blindness is its main performance. Under high illumination, the visual acuity is reduced. Under low illumination, the visual acuity of some patients can be slightly improved.

2. Color perception

Due to the poor function of the cone, it shows color vision disorder, only the inferior color recognition function, and more is that the color cannot be distinguished at all, and the objects are gray with different brightness.

3. Photophobia

Patients with this disease have different degrees of photophobia, often with bright room and outdoor photophobia, showing frequent blinking, bowing with hands and shading, in the dark room or at night can be as ordinary as the eye, Muller in 1923 The reason for the photophobia may be caused by the functional state of the rod cells. When the function of the cone and the rod body is present, the function of the rod body can be inhibited. When the cone function is poor, the function of the rod body exists alone. It is obvious.

4. Eyeball tremor

Due to the dysfunction of the patient's cone or the central dark spot, lack of fixation ability, nystagmus is formed in order to find the best sight or avoid strong light stimulation. If the cone still has some functions or false macula formation, the nystagmus can be very Light or disappear, nystagmus is often the earliest sign of the disease, usually horizontal tremor, which can be reduced with age.

5. Fundus

Most patients have changes in the macular area of the retina, such as the disappearance of the foveal fossa, the thinning of the retinal blood vessels or the pale side of the optic disc.

6. Field of view

The peripheral vision is generally normal, and some patients may have different degrees of central dark spots.

Examination of pediatric pyramidal dysfunction syndrome

General laboratory tests have no specific performance.

1. Electroretinogram The patient may have a clear electroretinogram disappeared, but the ectopic electroretinogram is generally normal.

2. Visual evoked potentials The literature reports that the initial response to visual evoked potentials in patients with this disease disappears or is delayed.

3. The initial curve of the dark adaptation curve (cone function) has changed a lot. The final threshold (bar function) is mostly normal, and the dark adaptation of the patient is more agile.

Diagnosis and differential diagnosis of pediatric pyramidal dysfunction syndrome

diagnosis

Diagnosis can be made based on clinical manifestations.

Differential diagnosis

From the development of the disease, the syndrome can be divided into two categories, identified as follows:

1. Static cone dysfunction

The lesion is congenital and does not develop.

2. Progressive cone dysfunction

For acquired, selective, progressive pyramidal dysfunction, most scholars believe that the second category may be a new type of hereditary retinal insufficiency, also known as progressive pyramidal degeneration or progressive pyramidal dystrophy, Its clinical manifestations are basically the same as those of the first type, but it has better fixation ability, more no nystagmus, normal vision and color vision function, and the lesion is progressive.

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