White matter atrophy

Introduction MRI shows that white matter atrophy is a symptom of clinical diagnosis of hereditary multiple cerebral infarction dementia. 17 cases of CADASIL pathological reports have been reported, except for mild uniform brain atrophy, the frontal parietal lobe is obvious, 2 cases of cerebellar atrophy are obvious, and 2 cases have large brain hematoma, no characteristic changes. The Willis ring can have mild atherosclerosis and small arteriosclerosis, with no occlusion of blood vessels. There are multiple lacunar lesions in the white matter, basal ganglia, thalamus, midbrain and pons around the ventricles. The subcortical white matter is usually better, and the ventricles are obviously dilated.

Cause

(1) Causes of the disease

Tournier-Lasserve et al. (1993) linked the genes of two unrelated families and found that the genetic gene of this disease is located at chromosome 19q12. The microsatellite marker was used to localize the gene locus to the 2 cm region (Ducros et al, 1996), confirming that the cause of CADASIL is the Notch 3 gene mutation (Joutel et al, 1996).

(two) pathogenesis

17 cases of CADASIL pathological reports have been reported, except for mild uniform brain atrophy, the frontal parietal lobe is obvious, 2 cases of cerebellar atrophy are obvious, and 2 cases have large brain hematoma, no characteristic changes. The Willis ring can have mild atherosclerosis and small arteriosclerosis, with no occlusion of blood vessels. There are multiple lacunar lesions in the white matter, basal ganglia, thalamus, midbrain and pons around the ventricles. The subcortical white matter is usually better, and the ventricles are obviously dilated. A small number of 10 patients had coronary and aortic atherosclerotic plaques. Microscopic white matter myelin staining was diffuse and focally pale, deep white matter, inner capsule showed lacunar lesions and infarct macrophage response, mild to moderate gliosis, and senile plaques in rare cortical cases.

The characteristic fibrinolytic proteins of 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 first discovered white matter and soft osmophilic material (GOM), and many scholars reported GOM. GOM consists of a large number of electron-dense extracellular particulate deposits, which are difficult to measure from 0.2 to 0.8 mm. GOM consists of vascular smooth muscle cells (VSMCs) composed of 10-15 nm granules. The VSMCs of the cerebral perforating branch and meningeal artery were obviously destroyed. The white matter, brain and cerebellar cortex, optic nerve and retinal VSMCs could not be recognized. The changes were observed in skin, muscle and nerve biopsy VSMCs. The nature of GOM has not been determined.

an examination

Related inspection

Brain CT examination of brain MRI

Diagnosis: according to the incidence of middle and early stage, clear cerebrovascular disease and family history of dementia, repeated episodes of TIA or stroke, early with migraine attack, repeated episodes of focal cerebral ischemia, signs with progressive dementia without stroke risk The factors were not associated with hypertension and diabetes. MRI showed white matter atrophy and multiple cerebral infarction showed non-specific leukoaraiosis. Elimination of Notch3 gene mutation examination such as atherosclerotic cortical encephalopathy and amyloid angiopathy and skin biopsy found GOM Confirmed diagnosis.

Differential diagnosis

Differential diagnosis: Neurologists' awareness of 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 is more than 60 years old. The history of stroke is chronic progressive dementia, gait instability and urinary incontinence. Many people with hypertension are often found in asymptomatic people over 60 years old. Patients with disorders, evidence of cerebrovascular disease, and risk factors for morbidity should be identified.

2. Familial disease-related strokes must exclude all cerebral ischemic genetic factors such as coagulopathy, dyslipoproteinemia, Fabry disease, cerebral amyloid angiopathy, homocystinuria and MELAS syndrome (mitochondrial brain muscle) Diseases, lactic acidosis, and stroke-like episodes, etc., have typical clinical manifestations and specificities for each of these diseases.

Diagnosis: according to the incidence of middle and early stage, clear cerebrovascular disease and family history of dementia, repeated episodes of TIA or stroke, early with migraine attack, repeated episodes of focal cerebral ischemia, signs with progressive dementia without stroke risk The factors were not associated with hypertension and diabetes. MRI showed white matter atrophy and multiple cerebral infarction showed non-specific leukoaraiosis. Elimination of Notch3 gene mutation examination such as atherosclerotic cortical encephalopathy and amyloid angiopathy and skin biopsy found GOM Confirmed diagnosis.

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