progressive hypertrophic interstitial neuritis
Introduction
Introduction to progressive hypertrophic interstitial neuritis Progressive hypertrophic interstitial neuritis is a rare hereditary peripheral neuropathy, a group of diseases caused by genetic factors that are mainly caused by peripheral nerve damage. Progressive hypertrophic interstitial neuritis is an autosomal recessive hereditary disease, mainly characterized by dry nerve hypertrophy, tenderness, distal limb movement, sensory disturbance, cerebellar symptoms, scoliosis and arched foot. basic knowledge The proportion of illness: the incidence rate is about 0.001% - 0.002% Susceptible people: no specific population Mode of infection: non-infectious Complications: ataxia
Cause
Progressive hypertrophic interstitial neuritis
(1) Causes of the disease
Progressive hypertrophic interstitial neuritis is autosomal recessive, which is caused by the marriage of close relatives.
(two) pathogenesis
The pathogenesis is still unclear. The main pathological changes are hypertrophic changes of the peripheral nerve trunk. The shape is like a spindle, which can be seen as nodular or diffuse thickening. Microscopic examination reveals significant segmental myelin degeneration and regeneration of myelin fibers. Signs, Schwann cells are onion-like around the axon, called onion-like changes, this onion-head change is the result of repeated demyelination and remyelination after peripheral nerve damage.
The axonal cord disappeared into a hollow shape, and the spinal cord and the anterior horn of the spinal cord were also degenerated. Although the unmyelinated fibers were not reduced, they may have been affected.
Prevention
Progressive hypertrophic interstitial neuritis prevention
Difficulties in the treatment of genetic diseases, unsatisfactory results, prevention is more important, preventive measures include avoiding close relatives marriage, implementation of genetic counseling, carrier genetic testing and prenatal diagnosis and selective abortion to prevent the birth of children.
Complication
Progressive hypertrophic interstitial neuritis complications Complications, ataxia
As the disease progresses, a variety of symptoms and signs can occur.
Symptom
Progressive hypertrophic interstitial neuropathic symptoms Common symptoms Double-handed rotation action Awkward eyeball tremors Closed eyes difficult to sign Intentional tremor Bow-shaped foot-pod-like language Muscle atrophy Muscle strain Reduced muscle bundle tremor
1. The disease usually starts in infancy, may have a family history, can also be sporadic, the course of disease progresses slowly, and sometimes it can be aggravated or relieved.
2. The initial symptoms are lower limb weakness, mild muscle atrophy, distal extremity pain, paresthesia, painful temperature sensation, positional sensation, hypotonia, limb dry nerve hypertrophy, tenderness, and late limb proximal muscles. Can be affected, manifested as weakness, decreased muscle tone, decreased or disappeared tendon reflexes, the trunk muscles are generally not involved, there may be fasciculation.
3. Cerebellar damage is also one of the manifestations of this disease, mainly for upper limb ataxia, such as intentional tremor, finger nose is not allowed, both hands rotate awkward, etc.; eyeball tremor, poetry language, and closed eyes Symptoms such as positive signs can occur, others can have pupil dilation, the pupils are not equal, the light reaction disorder, the arched foot and the scoliosis.
4. EMG examination showed that the motor and sensory nerve conduction velocity was significantly slowed down.
Examine
Progressive hypertrophic interstitial neuritis
There were no abnormal findings in blood routine, biochemistry, and cerebrospinal fluid examination.
1. EMG examination showed that the motor and sensory nerve conduction velocity was significantly slowed down.
2. Peripheral nerve biopsy showed hypertrophic interstitial neuritis.
Diagnosis
Diagnosis and differentiation of progressive hypertrophic interstitial neuritis
According to the disease in the childhood, the disease progresses slowly, the symmetry is felt, the motor nerve is involved, and the distal part of the limb is involved, the peripheral nerve is hypertrophied, and the biopsy is characterized by hypertrophic interstitial neuritis.
Differential diagnosis:
1. Leprosy has special skin damage, and it can be distinguished from the disease by checking positive for leprosy.
2. Tibial muscular atrophy The age of onset of this disease is larger than that of progressive hypertrophic interstitial neuritis. The distal muscles of the lower extremities are mainly atrophied, and become thinner under the junction of the lower third of the femur. Peripheral nerves are generally not hypertrophy and can be distinguished from this disease.
