Lafora disease
Introduction
Introduction to Rafora disease Lafora's disease is an autosomal recessive hereditary disease that occurs in late childhood and adolescence, and belongs to familial myoclonic epilepsy. In 1911, Lafora found that the cerebral cortex, the thalamus, the substantia nigra, the globus pallidus and the dentate nucleus contained basophilic inclusion bodies (Lafora bodies) based on autopsy data. The disease has a new understanding. Half of the patients began to have localized seizures, so they were diagnosed with common epilepsy in the early stage. Sometimes, before the occurrence of myoclonus and seizures, the patient had visual hallucinations or irritability, and the temper was erratic. Sexual cognitive decline. Most patients have difficulty surviving to 25 years of age. The patient's EEG showed diffuse slow wave and focal or multifocal spike discharge. The disease must be diagnosed by neuropathology. The Lafora body is round in the cytoplasm of the nerve cells, with a diameter of 3-30 m, PAS and Alcian orchid. Staining was positive, and electron microscopy was helpful to confirm the diagnosis. basic knowledge The proportion of illness: 0.02% Susceptible population: occurs in late childhood and adolescence Mode of infection: non-infectious Complications: convulsions and convulsions
Cause
Cause of Lafora disease
Cause:
Lafora disease is an autosomal recessive hereditary disease that may have a different genetic basis for patients with Lafora disease who have died after the age of 40 and died in their 50s.
Pathogenesis
The pathogenesis is still unclear. In 1911, based on autopsy data, Lafora found that the cerebral cortex, thalamus, substantia nigra, globus pallidus and dentate nucleus contained basophilic inclusion bodies in the cytoplasm of the nerve cells. Yoki et al. confirmed that these basophilic inclusion bodies are composed of polysaccharides that are biochemically related to glycogen and are structurally unrelated. Under electron microscopy, they are amorphous electron dense particles and irregular filaments. The diameter is about 6 m.
It has been reported in China that the Lafora corpuscle is found in the cerebral cortical neurons by brain biopsy. The corpuscle is round in the cytoplasm of the nerve cells, and the diameter is 3-30 m. Both PAS and Alcian blue staining are positive.
Prevention
Lafora disease prevention
Difficulties in the treatment of genetic diseases, unsatisfactory results, prevention is more important, preventive measures include avoiding close relatives marriage, implementation of genetic counseling, carrier genetic testing and prenatal diagnosis and selective abortion to prevent the birth of children.
Complication
Lafora disease complications Complications, convulsions and convulsions
With the development of the disease, in addition to ataxia and myoclonus, there may be different symptoms and signs, such as language disorders, unclear articulation, nystagmus and so on. In the later stage, attention should be paid to lung infections, hemorrhoids, etc. caused by prolonged bed rest.
Symptom
Lafora disease symptoms common symptoms convulsion illusion consciousness loss ataxia irritability irritability bedridden myoclonus
The Marseille International Conference in 1989 used Lafora disease as a separate disease entity.
1. The disease occurs in late childhood and adolescence.
2. Half of the patients began to have localized seizures, so they were diagnosed as common epilepsy in the early stage. In a few months, they could develop sexually developed myoclonic episodes, and gradually spread to the whole body. The episodes may be caused by noise, shock, and excitement. Unexpected tactile stimuli and some long-lasting activity induce or exacerbate, and even develop into a series of myoclonus and are transferred to systemic convulsions with loss of consciousness.
3. As the disease progresses, myoclonus increasingly interferes with patient activity until severe impairment of function, language involvement, neurological examination reveals changes in muscle tone and mild cerebellar ataxia, sometimes in myoclonus Before the onset of epileptic seizures, the patient had visual hallucinations or irritability, ecstasy, and progressive cognitive decline.
4. A small number of patients with deafness as early signs, low muscle tone, impaired tendon reflexes and rare pyramidal tract signs are late manifestations of the disease.
5. Most people are difficult to survive until they are 25 years old. For some patients with Lafora disease who are 40 years old and have died in their 50s, they may have different genetic basis.
6. The patient's EEG showed diffuse slow wave and focal or multifocal spike discharge. The disease must be diagnosed by neuropathology. Lafora body can be found in the cerebral cortical nerve cells by brain biopsy. It is round in the cytoplasm of nerve cells and has a diameter of 3-30 m. Both PAS and Alcian blue staining are positive, and electron microscopic observation can help to confirm the diagnosis.
There is no specific treatment for this disease, and patients eventually die due to bedridden and repeated infections.
Examine
Lafora disease check
Blood routine, biochemical, cerebrospinal fluid examination often found no abnormalities.
1. EEG showed diffuse slow wave and focal or multifocal spike discharge.
2. Brain tissue examination of Lafora bodies.
Diagnosis
Diagnosis and diagnosis of Lafora disease
diagnosis
According to the clinical manifestations of this disease, it occurs in children's advanced stage and puberty; in some months, it can develop sexually developed myoclonus and gradually spread to the whole body; the patient's EEG is diffuse slow wave and focal or multifocal spine Wave discharge, etc.; this disease can be considered, the diagnosis must rely on neuropathological diagnosis.
Differential diagnosis
Attention is distinguished from other autosomal recessive hereditary diseases, myoclonic epilepsy, and the like.
