Autosomal recessive cerebral arteriopathy with leukoencephalopathy
Introduction
Introduction to autosomal recessive cerebral arterial disease with leukoencephalopathy CARASIL is an abbreviation for autosomal recessive cerebral arterial disease and arteriosclerosis with subcortical infarction and leuebral autosomal recessive arteriopathy/arteriosclorosis with subcortical infarctsanleukoencephalopathy (CARASIL). It is also known as young onset of Binswanger-like leukoencephalopathy with baldness and low back pain (Fu Wu, 1998). Encephalopathy occurs earlier, more common in 20 to 40 years old, hair loss occurs in 10 to 20 years old, and low back pain occurs before and after brain symptoms. basic knowledge The proportion of illness: 0.003% Susceptible people: no specific people Mode of infection: non-infectious Complications: urinary tract infections acne
Cause
Autosomal recessive cerebral arterial disease with etiology of leukoencephalopathy
(1) Causes of the disease
The etiology of this disease is unknown, mainly manifested as white matter vascular disease, intramuscular small artery disease, combined with baldness and low back pain, it is speculated that vascular lesions are inflammatory. Baldness is characterized by hair loss throughout the head, similar to radiation-induced or systemic lupus erythematosus, which is characterized by small arterial lesions and is associated with inflammatory mechanisms. The skeletal system of this disease is degenerative, suggesting that vascular factors lead to ischemia and premature change, such as the use of monism to explain brain, hair and bone lesions, may be caused by vascular factors and congenital mesodermal dysplasia. It is also considered to be an allergic reaction leading to intracerebral arterial necrotizing vasculitis. Whether CARASIL is only found in Japanese and genetics remains to be studied.
(two) pathogenesis
The main lesions are extensive demyelination of the white matter, preservation of U-shaped fibers, and reduction of oligodendrocytes and astrocytes. White matter lesions in different cases may be in the frontal, frontal, and occipital or parietal lobes. The corpus callosum also shows atrophy and most softening lesions. The lesions may involve the cerebral peduncle and the base of the pons along the pyramidal tract. White matter and basal nucleus were seen to be scattered in small softening lesions. In the small arteries and small arteries with a white matter diameter of 100-400 m, intimal fibrosis, vitreous changes, internal elastic layer fracture, narrow diameter and occlusion were observed. There were no abnormalities or mild atherosclerosis in the large blood vessels at the base of the brain. Intra-arterial hypertrophy and arterial wall neutrophil infiltration were observed in the small arteries with a diameter of 800 m. There is no change in the veins.
Prevention
Autosomal recessive cerebral artery disease with leukoencephalopathy prevention
Genetic diagnosis and treatment should be performed in patients with a clear genetic background. The treatment of nervous system genetic diseases is difficult, the effect is not satisfactory, and prevention is more important. Preventive measures include avoiding close relatives, conducting genetic counseling, carrier genetic testing, prenatal diagnosis, and selective abortion.
Complication
Autosomal recessive cerebral arterial disease with leukoencephalopathy complications Complications, urinary tract infection, acne
May be associated with psychiatric symptoms, vestibular nerve damage symptoms and deformed spinal disease or disc herniation. In addition, attention should be paid to secondary lung infections, urinary tract infections and hemorrhoids.
Symptom
Autosomal recessive cerebral arterial disease with leukoencephalopathy symptoms common symptoms neuralgia orthotropy dementia vertigo lower lumbar pain sensory disorder hair loss
1. On average (31.9±7.1) years old, encephalopathy occurs earlier, more common in 20 to 40 years old, hair loss occurs in 10 to 20 years old, and low back pain occurs before and after brain symptoms. So far, the reported cases include suspected cases, a total of 29 families, 29 cases, all Japanese, more common in men. If suspicious cases are not included, the ratio of male to female is 3.2:1, including suspicious cases is 1.6:1. The parents of 10 pedigrees in 18 families have a close relative marriage history, and the pedigree analysis has a separation ratio of 0.27, basically with autosomal recession. Sexual inheritance is about 1/4 of the onset. The first symptoms are mostly walking disorders and weakness of one side of the lower limbs, or the onset of personality changes, memory disorders and vestibular neuropathy. Half of the patient's neurological symptoms were insidious, with a chronic course and aggravation. The other half of the patients started with a stroke, but the blood pressure was normal.
2. The symptoms of encephalopathy are similar to those of Binswanger's disease, mainly manifested by dementia, pyramidal tract signs, extrapyramidal symptoms and pseudobulbar paralysis. Most of them forget the onset, gradually appearing memory impairment, computational power decline, disorientation, personality change and emotional loss of control. Later, the performance is silent or inactive, deafening, no aphasia, loss of recognition, misuse and day and night upside down. Wait. Different from the performance of CADASIL, personality changes can occur at the beginning, such as irritability, impoliteness, emotional change, denial of illness and stubbornness, etc., depression is rare; late personality still preserves, can express feelings, gradually appear to the surrounding things Do not care, lack of spontaneous activities. All patients were seen with pseudobulbar palsy, asymmetrical pyramidal tract on one or both sides, more than half of the patients had increased muscle tone, and 30% had brainstem symptoms such as ocular dyskinesia, dizziness and nystagmus, and 1/3 of the movement Obstruction, about 1/5 mild sensory disturbance, individual sputum, upper limb neuralgia, distal muscle atrophy and taste disturbance, no special significance for the diagnosis of this disease.
Examine
Autosomal recessive cerebral artery disease with leukoencephalopathy
Cerebrospinal fluid routine examination and determination of cerebrospinal fluid, serum Apo E polymorphism and Tau protein quantification, amyloid fragment, have diagnostic and differential significance. CT and MRI showed diffuse white matter lesions, basal ganglia and cerebral white matter lacunar infarction.
Diagnosis
Diagnosis and identification of autosomal recessive cerebral arterial disease with leukoencephalopathy
1. This disease and CADASIL have cognitive impairment, psychiatric symptoms, neurological signs such as pseudobulbar paralysis, gait instability and pyramidal tract signs, no risk factors for stroke, without hypertension, identification points .
2.Binswanger disease 55 to 65 years old, risk factors for stroke such as hypertension, diabetes, myocardial infarction, amyloid angiopathy, antiphospholipid antibody syndrome, congestive heart failure, polycythemia, mucinous adenoma, serious Hyperlipidemia and hyperglobulinemia, etc., have different clinical symptoms and lack symptoms such as baldness and low back pain.
3.Nasu disease autosomal recessive inheritance, about 20 years old, limb pain and pathological fracture, brain symptoms in 30 to 40 years old. The lesion is mainly glial hyperplasia with axonal malnutrition. MRI showed diffuse demyelination of white matter. Similar to CARASIL, patients with Nasu's disease showed multiple cyst shadows on the X-ray film and could be diagnosed.
4. Adrenal white matter dystrophy autosomal recessive inheritance, more common in children, adult onset variability is rare, there are also bald, mainly manifested as spastic paraplegia. Pathological avascular disease, biochemical examination of blood long-chain fatty acids increased.
