Hereditary multi-infarct dementia

Introduction to hereditary multiple cerebral infarction dementia Hereditary multi-infarct dementia (hereditary multi-infarctdementia) is also known as autosomal dominant cerebral arterial disease with subcortical infarction and leuebral infarction (cerebral autosomaldominantarteriopathy with subcortical infarctsandleukoencephalopathy (CADASIL). VanBogaert (1955) reports the onset of two sisters in the middle age, rapid progress The Binswanger subcortical encephalopathy manifested as dementia, gait instability, pseudobulbar paralysis, epilepsy, and focal neurological deficits. The other two sisters in the family died at 36 and 43 years of age due to progressive dementia. Sourander et al (1977) described familial cerebrovascular disease for the first time in hereditary multiple cerebral infarction dementia, Stevens et al., and chronic familial vascular encephalopathy, which reported the autosomal dominant stroke family of unknown etiology. It is the damage of the pia mater and deep small arteries of the brain, and the thickening of the blood vessel wall causes blood flow reduction and occlusion. basic knowledge The proportion of illness: 0.001% Susceptible people: no specific population Mode of infection: non-infectious Complications: urinary tract infections acne

Causes of hereditary multiple cerebral infarction dementia

Genetic (30%):

Tournier-Lasserve et al. (1993) linked the genes of two unrelated families and found that the disease was located at chromosome 19q12 and was restricted to 2 cm with microsatellite markers (Ducros et al, 1996). The cause of CADASIL was confirmed to be a mutation in the Notch 3 gene (Joutel et al, 1996).

Pathology (20%):

17 cases of CADASIL pathological reports have been reported, except mild mild brain atrophy, obvious frontal lobe, 2 cases of cerebellar atrophy, 2 cases of large brain hematoma, no characteristic changes, Willis ring may have mild atherosclerosis Hardening and small arteriosclerosis, no occlusion of blood vessels, white matter around the ventricles, basal ganglia, thalamus, midbrain and pons can be seen in multiple lacunar lesions. The subcortical white matter is usually better, the ventricles are obviously dilated, and a few of the 10 patients have coronary arteries and Aortic atherosclerotic plaque, microscopic white matter myelin staining was diffuse and focal pale, deep white matter, cystic lesions and infarct macrophage response, light and moderate gliosis.

Endometrial fibrinous necrosis (20%):

In rare cases, there are senile plaques in the new cortex, and the characteristic fibrinolytic proteins in the white matter and pia mater wall thicken the wall. Sourander reported 3 cases of extensive occlusive endovascular hyaline degeneration, 2 cases of vascular occlusion, and endometrial fibrinous necrosis. Vascular myocyte nuclear loss, spherical cells or scattered clear cytoplasmic balloon-like myocytes make the middle membrane a fuzzy grain-like appearance, Guttiierez-Molina et al. (1994) called small arterial granular degeneration (SAGD), Estes (1991) Electron microscopy studies first found white matter, soft osmophilic material (GOM), and many scholars reported GOM. GOM consists of a large number of electron-dense extracellular particulate deposits, and the size is difficult to measure. Out of 0.2 ~ 0.8mm, GOM around vascular smooth muscle cells (VSMCs), composed of 10 ~ 15nm granules, brain penetrating branch and meningeal artery VSMCs significantly destroyed, white matter, brain and cerebellar cortex, optic nerve, retinal VSMCs can not be identified, This change can be seen in skin, muscle and nerve biopsy VSMCs, and the nature of GOM has not been determined.

Hereditary multiple cerebral infarction dementia prevention

Those with a clear genetic background should be genetically diagnosed and treated. The treatment of nervous system genetic diseases is difficult, and 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 selection. Sexual abortion, etc.

Hereditary multiple cerebral infarction dementia complications Complications, urinary tract infection, acne

Can be associated with significant depression, mania and suicidal tendencies, pay attention to secondary lung infections, urinary tract infections and hemorrhoids.

Hereditary multiple cerebral infarction dementia symptoms common symptoms leukoencephalosis atrophy dementia gait instability progressive dementia sphincter dysfunction cerebral ischemia

1. The average age of onset of this disease is 45 years old, no gender difference, no risk factors for stroke, different initial symptoms, 85% of patients have stroke, 30% to 90% of patients have dementia, and may be observed different ages The difference is 10 to 30 years. 30% of patients have migraine with aura. Migraine attack can be the earliest symptom. It occurs at 30 years old and may be caused by repeated ischemia or potential vascular disease. Lesions, 20% of patients with severe affective disorder, several families reported significant depression, mania and suicidal tendency during the course of the disease, presumably related to caudate nucleus and soy nucleus ischemic injury, recurrent subcortical symptoms are the disease The main manifestations, such as recurrent episodes of stroke with cognitive dysfunction, pseudobulbar paralysis, gait instability, pyramidal tract dysfunction and sphincter dysfunction, progressed stepwise.

2. Cerebrospinal fluid examination is usually normal. Chabriat et al. (1995) reported an increase in the number of CSF oligoclonal bands and one CSF cell in 2 patients, and 2 cases of immunoglobulin disease in the reported family.

3. MRI is an important diagnostic tool for this disease. There are evenly distributed punctate and nodular T2WI high signals around the lateral ventricle and semi-oval center. The basal nucleus and pons are also visible. Most patients have no abnormal cerebral angiography. One patient had severe stenosis of the small arteries, and the other two patients had increased neurological signs after cerebral angiography. Only one patient with severe basal ganglia with PET showed a decrease in cortical metabolism. Skin biopsy was a new method for external brain examination. Skin biopsy It has been found that the deposition of eosinophilic granules (GOM) has important diagnostic value.

Examination of hereditary multiple cerebral infarction dementia

1. Cerebrospinal fluid examination is usually normal, and there may be an increase in the number of cells in the CSF oligoclonal band.

2. Determination of cerebrospinal fluid, serum Apo E polymorphism and Tau protein quantification, amyloid protein fragment, have diagnostic and differential significance.

3. Imaging examination MRI is an important diagnostic tool that can show white matter atrophy and multiple cerebral infarction. Most patients with cerebral angiography have no abnormalities.

4. Skin biopsy found that the deposition of eosinophilic granules (GOM) has important diagnostic value.

Diagnosis and diagnosis of hereditary multiple cerebral infarction dementia

diagnosis

According to the disease of middle and early stage, clear cerebrovascular disease and family history of dementia, repeated episodes of TIA or stroke, early migraine attack, repeated episodes of focal cerebral ischemia, signs, progressive dementia, no stroke risk Factors, without hypertension and diabetes, MRI showed white matter atrophy and multiple cerebral infarction, manifested as non-specific leukoaraiosis, exclusion of atherosclerotic cortical encephalopathy and amyloid vascular disease, Notch3 gene mutation examination and skin Biopsy found that GOM can be diagnosed.

Differential diagnosis

The neuropsymologist's alertness to CADASIL is the key to avoiding clinical misdiagnosis. Screening for young and middle-aged cases of cerebral infarction and dementia with aura of migraine attacks.

1.Binswanger disease

More than 60 years old, there is a history of stroke, manifested as chronic progressive dementia, gait instability and urinary incontinence, etc., with hypertension, leukoaraiosis is common in asymptomatic people over 60 years old, with cognition Patients with disorders, evidence of cerebrovascular disease and risk factors for morbidity should be identified.

2. Familial disease-related stroke

All cerebral ischemic genetic factors such as coagulopathy, dyslipoproteinemia, Fabry disease, cerebral amyloid angiopathy, homocystinuria and MELAS syndrome (mitochondrial myopathy, lactic acidosis and Stroke-like episodes, etc., each of which has typical clinical manifestations and specificity tests.

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