Substantia nigra red nucleus pigmentation degeneration of globus pallidus
Introduction
Introduction to globus pallidus substantia nigra Pale globus substantia nigra degeneration is also called Hallervorden-Spatz disease. It is a genetic metabolic disease in children's advanced and adolescents, mainly involving the extrapyramidal system. It is also a rare neurodegenerative disease associated with iron metabolism disorder. Report of autopsy. The disease was first reported by Hallervorden and Spatz (1922), and the disease was later claimed by two people. The disease is autosomal recessive, due to the deposition of iron salts on the bilateral globus pallidus, the substantia nigra, or even the red nucleus, resulting in neurodegeneration, accompanied by neuronal loss and gliosis. The main clinical manifestations are the slow progression of rigidity in children and adolescents, less movement, dystonia, pyramidal tract signs, dementia and retinitis pigmentosa, and optic disc atrophy. basic knowledge The proportion of illness: 0.001% Susceptible people: no specific people Mode of infection: non-infectious Complications: optic atrophy, ataxia
Cause
The cause of globus pallidus substantia nigra
(1) Causes of the disease
The cause is not fully understood. It is generally considered to be autosomal recessive inheritance. Taylor used DNA linkage studies to find that the disease-causing gene is located in chromosome 20p12.3~p13.
(two) pathogenesis
The pathogenesis is still unclear, there is no clear specific biochemical abnormality, bilateral basal ganglia iron deposition but not accompanied by abnormal serum iron content or iron metabolism disorder, cerebrospinal fluid, serum and other tissues of the body, normal iron content, ferritin, transferrin Normal concentrations suggest that there may be abnormal iron metabolism in the brain tissue of patients.
However, it has been reported that after intravenous administration of labeled ferrous citrate, the radioactivity of the basal nucleus is excessively absorbed, and the significance of iron deposition is difficult to determine. Other degenerative diseases also have basal nuclear iron deposition to some extent, such as Parkinson's disease. And striatum - substantia nigra degeneration, iron deposition is 2 to 3 times that of normal people, therefore, the increase in iron content is not a specific manifestation of this disease, can not be used as a basis for the diagnosis of this disease.
It has been reported that by abnormal lipid metabolism, oxidative stress causes black matter, a large amount of iron (Fe2) accumulated in the globus pallidus to obtain electrons from O-2, H2O2, etc., Fe2 becomes Fe3, and these free radicals And Fe3, leading to cell death, myelin damage, iron-induced oxidative stress plays an important role in Hallervorden-Spas disease, and similar pathogenesis in Parkinson's disease and other degenerative diseases, but why similar pathogenesis is on the same substrate It is not clear that different diseases are produced in nuclear damage.
Neuropathology has characteristic changes: globus pallidus, substantia nigra (especially the anterior part) and red nucleus have dark brown pigmentation; granular and amorphous iron, calcium mixed deposits attached to small blood vessel walls or free in tissue Most affected tissue nerve cells degenerate and disappear a lot, nerve fiber demyelination changes, synaptic degeneration, mild proliferation of glial cells, brain stem nerve cells and cerebellar dentate nucleus cells can also be involved; sometimes found There are neuronal fiber tangles and Lewy bodies in the substantia nigra.
Another feature is the presence of swollen axon segments, which are similar to the pathological changes in axon dystrophy. For this reason, some neuropathologists believe that Hallervden-Spatz disease is a juvenile axonal malnutrition, but The idea that iron deposition is not obvious in the latter disease is not unanimously recognized.
Prevention
Pale globus black matter red nuclear pigmentation prevention
Pale globus substantia nigra degeneration is a neurodegenerative disease with a genetic background. Preventive measures include avoiding marriage by close relatives, conducting genetic counseling, genetic testing of carriers, prenatal diagnosis and selective abortion to prevent the birth of children.
Early diagnosis, early treatment, and intensive clinical care are important for improving the quality of life of patients.
Complication
Pale globus black matter red nuclear pigmentation complications Complications optic atrophy ataxia
Can be combined with primary optic atrophy, mental symptoms, mental decline and decline, ataxia, seizures and so on.
Symptom
Pale globus black matter red nucleus pigmentation symptoms common symptoms dementia reflexes into the eyelids ataxia, intelligent decline, mouth, unclear, static tremor, easy to fall, swallowing difficulties, tiger eye sign
1. Classification can be divided into children's and adult's types, and children's types are more common.
Children type more than 6 to 12 years old, Dooling et al (1974) reviewed the clinical material in cases of autopsy in this disease, 57% (24 cases) occurred before the age of 10, 81% (34 cases) in 15 Before the age of onset, only 7% (3 cases) developed after 22 years of age, half of the cases had a family history, the course of disease was about 10 years, and most died of complications at 20 to 30 years old.
Adult type, also known as late-onset, occurs around the age of 55. Individuals develop after 30 years of age. They often have a family history, similar to Parkinson's disease, with less rigidity, static tremors, easy fall, slow pronunciation, and low voice. Small steps, the effect of Madopar treatment is not obvious, a small number of patients are afraid of light, inconvenient swallowing, incontinence, mental decline, and even dementia, the course of disease for more than 10 years, 10 to 20 years after onset can still walk.
2. The clinical manifestations vary greatly. The lower extremity spastic paralysis, dystonia and myotonia are the most prominent features of this disease. The main manifestations are the slow progression of extrapyramidal symptoms. The first is the lower extremity muscle rigidity and dystonia. And dance - hand and foot Xu move and other symptoms, early can have pyramidal tract signs, sputum sputum, sputum reflex and Babinski sign; gradually progressing to the upper limbs, face and bulbar muscle; some patients have tongue dystonia, eyelids or the body dorsiflexion into a bow, causing difficulty in swallowing, unclear mouth, advanced patients can not get up, most of them died of complications within 10 years of onset.
3. There are also a few cases of primary optic atrophy in the literature. Some patients may have psychiatric symptoms. Most patients have mental decline and decline, as well as ataxia, seizures, etc. Some patients may have hand and foot aphosis. Patients with tremor paralysis or dystonia.
Examine
Examination of globus pallidus substantia nigra
There were no abnormal findings in blood, urine and cerebrospinal fluid examination, and no specific biochemical experiments confirmed the disease.
1. CT examination showed that the ventricle was enlarged, the lateral fissure was obviously enlarged, the sulci was enlarged, the caudate nucleus, the brain stem and the cerebellum were atrophied; the striatum low-density lesions were seen, and high-density lesions were also reported.
2. MRI examination T2WI showed low signal on the outer side of the double white ball, and there was a small high signal on the inner side, called "eye of the tiger".
3. The seablue histiocytes can be found in the Giemsa-Wright staining of bone marrow macrophages and peripheral blood lymphocytes. Under the microscope at 340 nm, the cells have PAS-positive fluorescent substances in the light. significance.
4. Intravenous injection of 59Fe-labeled iron salt (ferrous citrate), SPECT imaging showed increased basement aggregation, delayed than normal people, which also has diagnostic reference value.
Diagnosis
Diagnosis and differentiation of globus pallidus substantia nigra
Diagnostic criteria
According to the adolescent period, progressive extrapyramidal symptoms, dystonia, myotonia and spastic paralysis of the lower extremities, MRI examination T2WI showed a typical "tiger eye sign", which can diagnose the disease.
SPECT imaging of a positive family, bone marrow macrophages or peripheral blood lymphocytes that distinguishes navy blue tissue cells or 59Fe-labeled iron salts can be confirmed by radioactive accumulation and slow disappearance in the bilateral basal ganglia.
Differential diagnosis
Must be differentiated from degenerative and metabolic diseases that can cause extrapyramidal symptoms.
1. juvenile paralysis agitans Ramsay Hunt (1917) reported that the disease is similar to adult Parkinson's disease, most patients have sporadic, Van Bogaert has reported familial cases, autopsy found lenticular atrophy and black Quality, globus pallidus cells are missing, showing no obvious mental symptoms, slow progress, can still walk for 10 to 20 years onset, can be identified.
2. In the case of Chediak-Higashi disease, nearly half of the patients showed mental retardation, seizures, cerebellar ataxia and Parkinson's syndrome. Chronic polyneuropathy is the main manifestation.
3. Early-onset Huntington chorea 5 to 14 years old or as early as 1 to 4 years old, with a family history, nearly 5% of Huntington's chorea is adolescent, with mental retardation, slow speech, limb muscle rigidity, small gait , limb and trunk flexion tension increased, etc., can occur dance - hand and foot hyperactivity, occasionally Babinski sign, some adolescent patients without muscle rigidity, seizures are more common in adult type, can appear behavioral abnormalities, violations and posture Tension, as well as myoclonus and cerebellar ataxia, etc., ultimately the patient can not speak, open mouth, limb flexion, hand fist and torsion state.
4. The state of myelin (status dysmyelinatus) is an undetermined disease proposed by Vogt. The medullary nucleus fibers and nerve cells disappear, showing extrapyramidal muscle rigidity, gradual emergence of acromegaly, and eventually limb weakness or paralysis. Causes flexion deformity, often misdiagnosed Parkinson's disease.
5.Lafora-boby may have muscle rigidity, muscle shock, exercise and tremor, and may have seizures and dementia.
6. Leigh disease is rare in clinical practice. Extrapyramidal muscle rigidity occurs gradually in children's late or adulthood. CT shows the formation of nucleus cavity.
7. The disease still needs to be associated with hepatolenticular degeneration, heavy metal poisoning, encephalitis sequelae, and Segawa type of L-dopa-responsive dystonia, dentate nucleus red globus pallidus Identification of the body of the Lewy body (dentatorubropallidoluysian atrophy, DRPLA), neurological symptoms are similar to Wilson's disease, but no evidence of liver involvement or copper metabolism disorders, many of the disease in this group have tendon and extrapyramidal signs such as dance - hand and foot, Dystonia, etc., need to be combined with clinical and auxiliary examination data to identify.
