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Objective:To summarize the clinical characteristics and pathogenic mutation of gene NUDT2 in the child with intellectual disability with or without peripheral neuropathy (IDDPN). Methods:The clinical characteristics and development of one child attending the Department of Rehabilitation of Tianjin Children's Hospital were evaluated retrospectively,and the relationship between the clinical phenotype and gene mutation profile of NUDT2 was analyzed. Results:The child had global developmental delay, special appearance, low muscle tone of the limbs, accompanied by peripheral nerve damage in the limbs, and whole exome sequencing found that the child carried a homozygous mutation of NUDT2 gene, c.34C>T (p.R12X), which was a nonsense mutation. Sanger verified that both parents were carriers of c.34C>T heterozygous mutations. In the inclusion of 10 registered IDDPN patients, it was found that all of them were homozygous mutations, and the clinical phenotypes all had different degrees of cognitive impairment and movement disorders, among which only 3 cases were complicated by peripheral nerve damage. Conclusions:The child in this case had low birth weight/length, weak sucking ability in infancy, cognitive impairment, peripheral nerve damage, and genetic testing showed homozygous nonsense mutation of NUDT2 gene, which provided evidence support for the clinical understanding of the disease.
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N-methyl-D-aspartate receptor (NMDAR) encephalitis in combination with acute peripheral nerve damage is rare. A young female patient with anti-NMDAR encephalitis was admitted to Qianfoshan Hospital in Shandong Province on October 23, 2022. The main manifestations were abnormal mental behavior, consciousness disorders, and flaccid paralysis. Electromyography indicated axonal damage to the upper and lower extremities. Patient was in critical condition and admitted to the ICU with tracheal intubation for central hypoventilation. A combination of critical polyneuropathy was considered. The prognosis was good after hormone shock, immunosuppressive therapy, surgical therapy, anti-infection, respiratory support and symptomatic support. The diagnosis of anti-NMDAR encephalitis with acute peripheral nerve damage is difficult. Immune factors need to be considered and paraneoplastic syndrome should be differentially diagnosed.
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OBJECTIVE: To investigate the therapeutic effect of electroacupuncture on peripheral nerve damage induced by 1-bromopropane( 1-BP) exposure.METHODS: A total of 25 specific pathogen free healthy adult male Wistar rats were randomly divided into blank control group( n = 5),model control group( n = 10),and electroacupuncture treatment( EA) group( n = 10).Rats in the blank control group were not exposed to 1-BP and treated with electroacupuncture.The rats in model control group and EA group were placed in a dynamic inhalation exposure cabinet with 1-BP at concentration of 5 000 mg/m~3.The rats were continuously exposed to 1-BP 8 hours per day,5 days a week,for 4 weeks.At the 3 rd day after the end of the exposure,the EA group was treated with electroacupuncture on“Zu sanli”and“Huantiao”points for 4 courses.Each course included 20 minutes each time,once per day for 7 consecutive days.The body weight,the motor nerve conduction velocity( MCV) and sense nerve conduction velocity( SCV) of sciatic nerves on both posterior limbs of the rats were measured.RESULTS: During the course of 1-BP exposure,the rats in the EA and model control group showed reduction of eating,drinking and activities,limited autonomic activities and their hind limbs dragged.The MCV and SCV of posterior limb sciatic nerve of rats in the model control group were slower than that of the control group at the 4 th,6th and 8th week and the 0 week of the same group( P < 0.05).The MCV and SCV of posterior limb sciatic nerve of rats in the EA group improved with the increase of treatment time( P < 0.05),and those at the 6th and 8th weeks of the experiment( corresponding to the 2nd and 4th week after treatment) were faster than that of the model control group at the same time( P < 0.05).The SCV of the posterior limb sciatic nerve in the EA group recovered to normal level 4 weeks after treatment compared with the blank control group( P < 0.05).CONCLUSION: Electroacupuncture treatment can promote the recovery of peripheral nerve damage in rats with 1-BP poisoning.
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Objective To investigate the clinical and electromyographic features of peripheral nerve involvement in MS. Methods The clinical and electromyographic (EMG) data of 29 MS patients were evaluated retrospectively.Results 18 (62.1%) patients showed clinical and/or electromyographic abnormalities of peripheral nerves. The clinical symptoms included extremity numbness in 16 cases (88.9%), limb inertia in 11 cases (61.1%), radicular pain in 5 cases (27.8%), autonomic nerve disorder and dysphagia in few patients. Signs included decrease of tendon reflex in 11 cases (61.1%), periphery or root form hypoesthesia in 9 cases (50%), muscle weakness in 7 cases (38.9%), myatrophy in 4 cases (22.2%), and reduced pharyngeal reflex in 1 case (5.6%). There was no difference in age of onset, course of disease, neurologic impairment and prognosis between the patients accompanied with peripheral neuropathy and the patients without peripheral neuropathy. The electromyographic abnormalities included spontaneous potential in 4 cases (13.8%), increased motor unit potential in 8 cases (27.6%), slow MCV in 15 cases (51.7%), slow SCV in 13 cases (44.8%), low amplitude in 9 cases (31.1%), and prolonged distal latency in 5 cases (17.2%). The neuropathies improved by treatment with corticosteroid in the all patients except one.Conclusions Some MS patients may accompany with peripheral nerve abnormalities, which may improve with the recovery of MS. EMG is useful to evaluale the site and degree of peripheral nerve damage.