hereditary stress-susceptible peripheral neuropathy
Introduction
Introduction to hereditary stress susceptibility to peripheral neuropathy Hereditary pressure susceptibility peripheral hypertension (HNLP) is also known as altanoid peripheral neuropathy (allantoid peripheral neuropathy), familial recurrent polyneuropathy (familial recurrent polyneuropathy). First reported by DeJong in 1947, its main clinical feature is that single nerve paralysis can occur in the case of mild mechanical damage and compression, and multiple remissions and recurrences. The pathological feature is thickening of the myelin to form a body structure of the sausage. basic knowledge The proportion of illness: the incidence rate is about 0.004%-0.007%, with hereditary Susceptible people: no special people Mode of infection: non-infectious complication:
Cause
Causes of hereditary stress susceptibility to peripheral neuropathy
The main clinical features are recurrent acute mononeuropathy or polyneuropathy, which occurs repeatedly after slight traction, compression or trauma. It can be relieved after several days or weeks, and relieved within half of 6 months. Some patients may have a residual part. The sequelae, the more the number of episodes, the more severe the clinical symptoms, and only one episode of 1/3 of the cases.
The most commonly involved nerves, followed by the sural nerve, ulnar nerve, brachial plexus, phrenic nerve and median nerve, clinical manifestations of motor-sensing peripheral neuropathy, can also be expressed as simple motor or sensory neuropathy, mostly painless, Anti-recurrent authors may have muscle atrophy, carriers of PMP-22 gene mutations, may have no clinical symptoms or only sputum reflexes decline or disappear, neuroelectrophysiological examination shows that both the affected and unaffected nerves have diffuse nerve conduction velocity slowing, The distal movement latency is prolonged.
Prevention
Hereditary stress susceptibility peripheral neuropathy prevention
Care should be taken to avoid predisposing factors such as trauma, mechanical compression and traction to prevent seizures.
Complication
Hereditary stress susceptibility peripheral neuropathy complications Complication
Anti-recurrent authors may have motor dysfunction and muscle atrophy.
Symptom
Hereditary stress susceptibility peripheral neuropathy symptoms common symptoms cranial nerve paralysis
The diagnosis of this disease mainly depends on the clinical manifestations of the characteristics, such as traction, recurrent single neuropathy or polyneuropathy after compression, neurophysiological examination has extensive abnormalities, neurological biopsy found more characteristic sausage-like structure and segmental demyelination, Family history is very important for clinical diagnosis, and genetic diagnosis can be used for cases with atypical clinical and electrophysiological manifestations.
Examine
Examination of hereditary stress susceptibility peripheral neuropathy
1. Blood tests include blood sugar, liver function, kidney function, erythrocyte sedimentation rate, rheumatism series, immunoglobulin electrophoresis and other serological tests related to autoimmunity; serum heavy metal (lead, mercury, arsenic, antimony, etc.) concentration detection; differential diagnosis Significant.
2. Gene defect analysis PMP-22 gene deletion.
3. There are a wide range of abnormalities in neurophysiological examination.
4. Peripheral nerve biopsy found a more characteristic sausage-like structure and segmental demyelination.
Diagnosis
Diagnosis and differentiation of hereditary stress susceptibility peripheral neuropathy
The disease also needs to be identified with the following diseases:
1. The pathogenic genes of CMT1 are the same, the nerve conduction velocity is slowed down in electrophysiological examination, and the sausage-like structure is sometimes seen in the sural nerve biopsy of CMT1, so the clinical confusion is easy. CMT1 patients have arched foot and spine. Side bends and leg-like changes are more common.
2. Compressive peripheral neuropathy has recurrent or oppressive, traction as an inducement, but HNLP has a family history and extensive peripheral nerve conduction velocity abnormalities can be identified with compression peripheral neuropathy.
3. Hereditary neuropathic muscle atrophy is autosomal dominant inheritance, pathological examination can be seen the formation of the body structure of the sausage, but there is no extensive neurophysiological abnormality of hereditary neuropathic muscle atrophy, and there is no 17p11.2 Site mutations can be identified by both.
4. Porphyria, diabetes and recurrent Gilan-Barre (Green-Bali) syndrome have clinical features that alleviate recurrence, and should also be identified.
5. It has been reported that the body structure of the sausage is also found in other non-specific motor neuropathy, which needs to be identified according to clinical features.
