neuroacanthocytosis
Introduction
Introduction to neurocyte erythrocytosis Neuroacanthocytosis (NA) or aeanthoeytosis (Aeanthoeytosis), also known as Bassem-Kornzweig syndrome, Levine-Critchley syndrome, is an independent extrapyramidal disease. The main defect of this disease is blood. Beta lipoprotein is a rare and inherited hereditary disease, so it is also called beta-poproteinemia. basic knowledge The proportion of illness: 0.001% Susceptible people: no special people Mode of infection: non-infectious Complications: epilepsy cardiomyopathy
Cause
Causes of neuroacupuncture
genetic factors:
It is generally believed that neuroacanthocytosis (NA) is a rare genetic disease in which autism is the main type, which is autosomal recessive, with hyperactivity as the main type, which is autosomal dominant, even There are sporadic cases, and there are also sexually linked genetic diseases that are thought to be related to X chromosome gene defects.
Pathogenesis
The pathological changes of NA involve the brain (severe neuronal degeneration of the caudate nucleus with gliosis, globus pallidus is mild), spinal cord (severe neuronal loss of the cervical anterior horn), peripheral nerve (medullary fiber plaque Demyelination, neuromuscular atrophy, and other parts.
The autopsy specimen showed atrophy of the brain and caudate nucleus, enlargement of the lateral ventricle, microscopic observation of small neurons and medium-sized neurons in the striatum, extensive astrocytic response, caudate nucleus and body atrophy, nerve The number of neurons was significantly reduced, and the globus pallidus also had the same change but to a lesser extent. In some cases, there were neuronal loss and mild glial cell reaction in the thalamus, substantia nigra and anterior horn of the spinal cord, while the rest of the brain was relatively unchanged. It was found that the third layer of the frontal cortex had different pyramidal cell accumulation and giant neuron phenomenon, but there is still no large sample pathology report.
Prevention
Prevention of neurocyte erythrocytosis
Because of the difficulty in the treatment of nervous system genetic diseases, the efficacy is not satisfactory, prevention is more important, preventive measures include avoiding close relatives marriage, implementing genetic counseling, carrier genetic testing and prenatal diagnosis and selective abortion to prevent the birth of children.
Complication
Neuroacupuncture complications Complications, epilepsy, cardiomyopathy
About half of the patients may have progressive mental decline, about one-third of patients may have seizures, peripheral neuropathy may occur, very few patients may experience hearing impairment, Mcleod syndrome may have myopathy, cardiomyopathy, serum creatine kinase (CK) increased activity and sustained hemolysis.
Symptom
Symptoms of neuroacupuncture syndrome common symptoms involuntary movement bow-shaped foot body organs slow blood loss ataxia gait instability erythrocytosis eating difficulties intelligent decline
1. Neuroacupuncture is more common in adolescence or early adulthood, with an onset age of 8 to 62 years; the course of disease is 7 to 24 years, and the longest survival is 33 years; males are more than females, and the ratio of male to female is about 1.8:1.
2. The most prominent clinical manifestation of NA is dyskinesia, with involuntary movement of the mouth and face. Limb chorea (like HD) is the most common, often manifested as difficulty eating, gait instability, self-biting lip, tongue, etc. Dyskinesia has dystonia, dystonia, tic disorder, Parkinson's syndrome (PDS), etc. PDS is more common in young patients, appearing in the course of 3 to 7 years, can occur simultaneously with the above dyskinesia.
3. Personality changes and psychiatric symptoms are also common symptoms; about half of the patients may have progressive mental decline; about 1/3 of patients may have seizures, more common with strong and straightforward generalized seizures.
4. Peripheral neuropathy can also occur. EMG shows denervated EMG changes; very few patients may have reflexes and hearing loss.
5. Haidie et al. (1991) divided NA into three types:
(1) Bassen-Komzweig syndrome: also known as -lipoproteinemia, is an autosomal recessive disorder, clinical manifestations of erythrocytosis, beta lipoprotein deficiency, fat malabsorption, ataxia, retinopathy, Can be associated with muscle atrophy, gonadal atrophy, arched foot and so on.
(2) Mcleod syndrome: X-linked recessive genetic disease, more than 30 to 40 years old, clinical manifestations of various dyskinesias, often reflexes disappear, myopathy, cardiomyopathy, serum creatine kinase (CK) activity Increased and sustained hemolysis, the disease is characterized by a marked decrease or even disappearance of the antigenicity of Kell antigen and xK antigen on the surface of the patient's red blood cells.
(3) Levin-Critchley syndrome: also known as choroidal disease - erythrocytosis, clinical manifestations similar to Mcleod syndrome, but the expression of Kell antigen and xK antigen on the surface of red blood cells is normal, and serum lipoprotein levels are also in the normal range.
Examine
Examination of neurocytic erythrocytosis
1. Ordinary light microscopy can find red blood cells in the surrounding blood, but only if its count is more than 3%, it has a diagnostic significance. No red blood cells can be found in the surrounding blood.
2. The weakening or disappearance of the antigenicity of Kell antigen and xK antigen on the surface of red blood cells is an important basis for the diagnosis of Mcleod syndrome.
3. Serum beta lipoprotein deficiency is an important basis for the diagnosis of Bassen-Kormzweig syndrome.
4. Most patients with NA have elevated serum CK activity, which are found in male patients.
5. EMG examination in some patients showed denervated EMG changes.
6. Cranial CT showed obvious focal atrophy of the caudate nucleus. Mcleod syndrome often had diffuse cerebral hemisphere atrophy. MRI showed bilateral axillary nucleus atrophy, T1 weighted image showed low signal, T2 weighted image and proton The density image shows a caudate nucleus with a slightly higher signal.
7. Positron X-ray computed tomography (PET) showed a decrease in cerebral blood flow in the caudate nucleus, putamen, cerebral cortex, temporal lobe, and thalamic regions, showing low metabolic activity.
Diagnosis
Diagnosis and differentiation of neurocytic erythrocytosis
The diagnosis of NA mainly depends on clinical manifestations and auxiliary examinations. It has typical clinical manifestations. The blood red blood cell count of the surrounding blood is greater than 3% and the serum CK is increased.
Clinical attention should be paid to the identification of chronic progressive chorea (HD), globus pallidus substantia nigra pigmentosa (HSD) and Tourette syndrome.
