• Annals of Clinical Neurophysiology
• /
• v.22 no.2
• /
• pp.112-116
• /
• 2020

Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS) can present with overlapping features. A 56-year-old female developed ptosis and diplopia after an upper respiratory infection, and presented with facial palsy, dysarthria, brachial weakness, ataxia, and areflexia. Mild weakness of both legs appeared after a few days. Anti-ganglioside complex antibody were positive to IgG GM1/GQ1b and GQ1b/sulfatide antibodies. The present case suggests that the manifestation of overlap between MFS/PCB variants and GBS could be caused by antiganglioside complex antibodies.

• Annals of Clinical Neurophysiology
• /
• v.3 no.2
• /
• pp.156-159
• /
• 2001

Miller Fisher syndrome(MFS) has been the focus of conflicting opinions regarding the peripheral versus the central nature of the site of major neural injury. We present our electrophysiological findings in one case of MFS to help clarify the pattern of peripheral nerve injury in this syndrome. A 45-year-old man visited our hospital due to sudden diplopia. Initial examination revealed internuclear opthalmoplegia. The next day, his symptoms rapidly aggravated to complete external ophthalmoplegia, ataxia, and areflexia with hand and foot numbness. Serial electrophysiological studies were performed. The results of brainstem evoked potential(BAEP) and blink reflex were normal in the serial studies. Motor and sensory nerve conduction study(NCS) were normal findings in second hospital day, but ulnar sensory nerve shows no sensory nerve action potential(SNAP) and sural sensory conduction velocity was delayed in 7th hospital day. Our patient's clinical presentation began to improve on 15th hospital day, and his electrophysiologic study showed improvement on 29th hospital day. We believe that all the manifestations of MFS can be explained by the involvement of peripheral nerves without brainstem or cerebellar lesion with the serial electrophysiological studies.

• Journal of Electrodiagnosis and Neuromuscular Diseases
• /
• v.20 no.2
• /
• pp.159-163
• /
• 2018

Guillain-Barre syndrome (GBS) after trauma and general orthopedic surgery is rare. A 74-year-old woman showed ascending paralysis symmetrically, dysarthria, dysphagia and areflexia on 14 days after minimally invasive endoscopic thermoannuloplasty on L4-5 level. Brain and lumbar magnetic resonance imaging demonstrate no abnormal findings. The electrodiagnostic study showed prolonged distal motor, sensory latencies and F-wave latencies and reduced amplitude of compound muscle action potential in nerves of upper and lower extremities. In the cerebrospinal fluid (CSF) examination, total protein and IgG were increased. We diagnosed Guillain-Barre Syndrome based on clinical features, electrodiagnostic study and CSF examination and the patient improved symptoms after immunoglobulin injection and rehabilitation. Because the occurrence of GBS after minimally invasive procedure has not been reported, we report a case of GBS after minimally invasive procedure with literature review.

• Annals of Clinical Neurophysiology
• /
• v.13 no.1
• /
• pp.44-47
• /
• 2011

Background: Miller-Fisher syndrome (MFS) is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered a variant form of Guillain-Barre syndrome. Although some cases of delayed-onset facial palsy in MFS have been reported, the characteristics of this facial palsy are poorly described in the literature. Methods: Between 2007 and 2010, six patients with MFS were seen at our hospital. Delayed facial palsy, defined as a facial palsy that developed while the other symptoms of MFS began to improve following intravenous immunoglobulin treatment, was confirmed in four patients. The clinical and electrophysiological characteristics of delayed facial palsy in MFS, as observed in these patients, are described here. Results: Four patients with delayed-onset facial palsy were included. Delayed facial palsy developed 8-16 days after initial symptom onset (5-9 days after treatment). Unilateral facial palsy occurred in three patients and asymmetric facial diplegia in one patient. The House-Brackmann score of facial palsy was grade III in one patient, IV in two patients, and V in one patient. None of the patients complained of posterior auricular pain. Facial nerve conduction studies revealed normal amplitude in all four patients. The blink reflex showed abnormal prolongation in two patients and the absence of action potential formation in two patients. Facial palsy resolved completely in all four patients within 3 months. Conclusions: Delayed facial palsy is a frequent symptom in MFS and resolves completely without additional treatment. Thus, standard treatment and patient reassurance are sufficient in most cases.

• Journal of Life Science
• /
• v.29 no.7
• /
• pp.800-808
• /
• 2019

Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.