Pediatric external ophthalmoplegia - retinitis pigmentosa - cardiac conduction
Introduction
Extraocular muscle paralysis in children - Retinitis pigmentosa - Introduction to cardiac conduction Extraocular muscle paralysis - retinitis pigmentosa - heart block syndrome is Kearns-Sayre syndrome (Kearns-Sayresyndrome). It is characterized by extraocular muscle paralysis, retinitis pigmentosa, and cardiac conduction system disorders. basic knowledge Sickness ratio: 0.0001% Susceptible people: children Mode of infection: non-infectious Complications: ataxia, mental retardation
Cause
Extraocular muscle paralysis in children - retinitis pigmentosa - the cause of cardiac conduction
Causes:
The cause of this disease is still unclear.
Pathogenesis:
The disease is an idiopathic non-hereditary disease. Pathologically, there are extensive spongiform changes and gliosis in the white matter, basal ganglia, hypothalamus, cerebellum, and brainstem. There are two views at present: First, the primary disorder of mitochondrial function, mainly the primary abnormality of mitochondrial gene or nucleosome, often caused by heredity; second, secondary disorder of mitochondrial function, an autoimmune Sexually transmitted diseases, some people think that this symptom may be caused by repeated viral infections, which is related to vitamin E deficiency; in addition to abnormal mitochondria, there is excessive accumulation of lipids, and these abnormalities are due to defects in palmitoyl-CoA synthetase. The abnormality of this enzyme may be secondary. In patients with severe damage, the essential element of palmitoyl-CoA synthetase, the bound phospholipid, is depleted, resulting in disordered mitochondria and excessive accumulation of lipids leading to limb weakness.
Prevention
Extraocular muscle paralysis in children - retinitis pigmentosa - heart conduction prevention
There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.
Complication
Extraocular muscle paralysis in children - retinitis pigmentosa - cardiac conduction complications Complications, ataxia, mental retardation
Often combined with renal dysfunction, scoliosis, ataxia. Can be associated with mental retardation, growth retardation and endocrine system diseases.
Symptom
Extraocular muscle paralysis in children - retinitis pigmentosa - heart conduction symptoms common symptoms eye can not be free eye movement muscle paralysis eyelid droop arrhythmia weakness hearing loss optic atrophy paralysis conduction block cardiac arrest
The patients with this disease generally start in childhood, often single-shot without dominant family genetic history, and its clinical features are:
1, progressive ophthalmoplegia paralyzed eyelids, eye movement disorders, poor orientation.
2, retinal pigmentation optic atrophy, visual impairment.
3, a small number of patients with heart block may have arrhythmia such as pre-excitation syndrome, cardiac arrest.
4, high-pitched deafness vestibular damage, hearing loss.
5, systemic muscle weakness.
Examine
Extraocular muscle paralysis in children - retinitis pigmentosa - examination of cardiac conduction
1, cerebrospinal fluid test cerebrospinal fluid protein is higher than 100mg.
2. Biochemical tests show oxidative phosphorylation disorders.
3. Muscle pathology showed sawtooth-like red fibers with characteristic changes.
4, ECG examination has conduction system obstacles.
5, EMG examination showed non-specific myopathy, showing interference phase.
6. EEG examinations are epileptiform discharges with the patient's EEG, producing a wide range of scattered Q-waves and QS waves.
Diagnosis
Extraocular muscle paralysis in children - retinitis pigmentosa - differential diagnosis of cardiac conduction
diagnosis
For adolescent onset, and clinical manifestations, combined with the corresponding examination can make a diagnosis: three major progressive progressive muscle paralysis, retinopathy, cardiac conduction disorders.
Differential diagnosis
This symptom must be differentiated from the following diseases:
1, sawtooth-like red fiber myoclonus syndrome identification of the symptoms are myoclonus, ataxia, muscle weakness, epilepsy, and more family genetic history and passed from the mother system to the offspring.
2, lactic acid toxic mitochondrial myopathy syndrome to distinguish the disease in addition to the above symptoms, there are still stroke-like hemiplegia, hemianopia and central blindness.
