RESUMO
Objective:To summarize the clinical characteristics of patients with Guillain-Barré syndrome (GBS) complicated with optic neuritis (ON).Methods:The clinical data of a patient with GBS complicated with ON, who admitted to the Department of Neurology, the First Hospital of Shanxi Medical University in December 2021, were collected, including demographic characteristics, clinical symptoms and signs, laboratory and electrophysiological data, and results of fundus color films. The patients with GBS complicated with ON reported in the literature were also reviewed.Results:A 40-year-old female patient with GBS was diagnosed by the results of electromyography and cerebrospinal fluid tests combining with the history and signs, who was treated with intravenous immunoglobulin on the 3rd day after onset. On the 8th day, her muscle strength improved significantly. However, on the 12th day, the visual field darkened, and on the 19th day, the vision decreased significantly (oculus dexter visual acuity 0.2, oculus sinister visual acuity 0.1 +1) with bilateral papilloedema, a relative afferent pupillary defect and delayed P100 response of the visual evoked potential. Obvious abnormality was not noted in optic nerve magnetic resonance imaging. Thus ON was diagnosed and treated with pulse methylprednisolone therapy. After 8 days of treatment, the visual acuity was completely recovered and there was no abnormality in the ocular fundus. A total of 28 cases of GBS complicated with ON (including the present patient) were reported in the literature. The age of onset was mostly 20-60 years, and there was no gender preference. Mycoplasma pneumoniae was the most common premorbid pathogen and was identified in 7 of the 10 cases in which the causative agent was described. ON usually involved both sides, and 21 of 28 patients had bilateral optic nerves involved. GBS preceded ON or both occurred simultaneously in the majority of patients; GBS preceded ON in 14 of 28 patients, and both occurred simultaneously in 10 of 28 patients. All patients responded well to immunotherapy, and vision was completely recovered in 20 patients. Conclusions:GBS complicated with ON is rare. Attention should be paid to the loss of vision in patients with GBS. Relevant examinations should be completed as soon as possible and immunotherapy should be given.
RESUMO
Objective:To describe the clinical features of a patient of anti-neurofascin 186 (NF186) antibody associated acute immune sensory polyradiculopathy (AISP), and enhance understanding of AISP/chronic immune sensory polyradiculopathy (CISP).Methods:The clinical characteristics, diagnosis and treatment of a domestic AISP patient with NF186 antibody positive admitted to the First Hospital of Shanxi Medical University in December 2021 were summarized, and the previously reported cases of AISP/CISP were systematically reviewed.Results:The patient was a 62-year-old male with acute onset. The clinical manifestations included severe sensory ataxia, increased protein in cerebrospinal fluid, no response to stimulation of the central segment of somatosensory evoked potentials (SEP), normal sensory and motor nerve conduction, and positive serum anti-NF186 antibody (1∶32). After glucocorticoid treatment, the clinical symptoms and SEP were significantly improved. The drug was stopped for 2 months, and there was no recurrence. There were 23 cases of AISP and CISP with complete data reported in the literature (including this patient). The age of onset was (54.7±17.7) years, and the ratio of male to female was 1.88. Three patients with acute onset were classified as AISP. A total of 95.7% (22/23) of patients showed sensory ataxia without limb weakness, 95.0% (19/20) of patients showed prolonged cortical potential latency or even no response, and 95.5% (21/22) of patients showed increased cerebrospinal fluid protein in varying degrees, and nerve root thickening or abnormal enhancement was not common. All 10 patients receiving immunotherapy responded to corticosteroids or intravenous immune globulin. Only 6 AISP/CISP articles reported screening for anti-ganglioside antibodies or Ranvier′s node-paranodal region-related antibodies, and no positive NF186 antibodies were reported. All the 3 patients with AISP had some characteristics of CISP/chronic inflammatory demyelinating polyradiculoneuropathy, and there was no significant difference between AISP and CISP patients in clinical features except the mode of onset.Conclusions:NF186 antibody could cause AISP, which presents as acute onset sensory ataxia. AISP is responsive to glucocorticoid therapy. Except for the mode of onset, AISP and CISP are difficult to distinguish from clinical, electrophysiological, pathological aspects and pathogenic antibodies, so they may be two different manifestations of the same disease.
RESUMO
Objective Through description of the clinical,electrophysiological,pathological and gene sequencing characteristics of a family diagnosed as paramyotonia congenita and hypokalemic periodic paralysis to broaden the understanding of skeletal muscle channel disease and provide the reference for clinical diagnosis.Methods The clinical manifestation,electromyography,muscle pathology and gene sequencing of a family diagnosed as paramyotonia congenita and hypokalemic periodic paralysis in the First Hospital of Shanxi Medical University in October 2017 were collected.Results The proband represented myotonia and episodic muscle weakness,and the manifestations of different patients of the family were varied,including myotonia,episodic muscle weakness or myotonia and episodic muscle weakness.The electromyography of the proband showed myotonic potential,and the compound muscle action potential decreased by 36％ in 40 minutes after exercise in the long exercise test in cold environment (11 ℃).The gene sequencing showed α-subunit type Ⅳ of voltage gated sodium channel (SCN4A) gene p.R1448H mutation.Conclusions The proband presented with paramyotonia congenita and hypokalemic periodic paralysis.Family clinical manifestations suggested phenotypic heterogeneity.The long exercise text in cold environment (11 ℃) confirmed the diagnosis of the proband as paramyotonia congenita and hypokalemic periodic paralysis.Family gene sequencing showed that the mutation of p.R1448H in SCN4A gene was the pathogenic gene mutation site of paramyotonia congenita and hypokalemic periodic paralysis.
RESUMO
Objective To discuss clinical characteristics of a family with Andersen-Tawil syndrome, test and analyze the mutation of their pathogenic gene, and to discover the dependency of genotype and phenotype by searching every reported Andersen-Tawil syndrome patient in all accessible literature worldwide.Methods In December 2nd,2016,two patients in the Department of Neurology,the First Hospital of Shanxi Medical University, received medical history data collection and relevant examinations.PCR and DNA sequencing were applied to detect ion channel diseases related genes such as SCN4A, CACNA1S, KCNJ2, KCNE3, KCNE4, KCNJ18, KCNJ5.Random selection of 200 healthy volunteers from Shanxi Medical University served as normal controls.Andersen-Tawil syndrome cases,which are accorded with statistical criteria in published literature, were collected.Their genotype and phenotype were analyzed and summarized.Results Clinical manifestation of the pre-confirmed patient and his father was accorded with diagnostic criteria of Andersen-Tawil syndrome.Prominent characteristics included ventricular arrhythmia, periodic paralysis, and dysmorphic features.The two patients had renal tubular acidosis.One of these two patients also had increased level of renin-angiotensin-aldosterone.New mutation Q164R in the KCNJ2 gene was found in these two patients.There was no report in any literature or any database that we could find about this gene mutation at present.The mutation was not found among other healthy family members and 200 healthy controls.In this study,we referenced 55 samples of Andersen-Tawil syndrome in 12 articles,in which 54 samples are KCNJ2 gene mutation,one is KCNJ5 gene mutation.We concluded a negative correlation between the onset age of periodic paralysis and the onset age of cardiac symptoms after a statistical analysis of these 54 patients with KCNJ2 gene mutation(rs=-0.698 1,P=0.005 5).The incidence of cardiac symptoms in patients of Andersen-Tawil syndrome with periodic paralysis was reduced(33.33%(14/42)vs 9/11, χ2=6.485,P=0.011).Men(96.00%(24/25))were found more likely to have periodic paralysis than women(65.52%(19/29); χ2=7.691,P=0.006).Women (64.29%(18/28))were found more likely to have cardiac symptoms than men(20.00%(5/25); χ2=10.545,P=0.001).Conclusions New mutation Q164R in the KCNJ2 gene is the cause of Andersen-Tawil syndrome,which could cause renal tubular acidosis.We speculate that the gene may play a role in the way of potassium regulating aldosterone.For women with the KCNJ2 gene mutation and the late-onset of periodic paralysis,it is important to take drug or manual intervention as early as possible to prevent the occurrence of cardiogenic adverse events.