• Annals of Clinical Neurophysiology
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• v.21 no.1
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• pp.53-56
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• 2019

Miller Fisher syndrome (MFS) is characterized by ataxia, areflexia, and ophthalmoparesis. Here we present a case of MFS mimicking Wernicke encephalopathy (WE) during pregnancy. A 31-year-old woman at 8 weeks of gestation presented with diplopia and ataxia after experiencing nausea and vomiting for several weeks. We initiated thiamine based on a suspicion of WE, which produced no clear effects. However, her symptoms began to improve following intravenous immunoglobulin treatment, and other findings finally lead to a diagnosis of MFS. Because ataxia and ophthalmoparesis can be misdiagnosed as WE during pregnancy, clinicians should consider MFS in the differential diagnosis.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.83-93
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• 2021

Charcot-Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usually classified into two categories based on pathology: demyelinating CMT type 1 (CMT1) and axonal CMT type 2 (CMT2) neuropathy. CMT1 can be distinguished by assessing the median motor nerve conduction velocity as greater than 38 m/s. The main clinical features of axonal CMT2 neuropathy are distal muscle weakness and loss of sensory and areflexia. In addition, they showed unusual clinical features, including delayed development, hearing loss, pyramidal signs, vocal cord paralysis, optic atrophy, and abnormal pupillary reactions. Recently, customized treatments for genetic diseases have been developed, and pregnancy diagnosis can enable the birth of a normal child when the causative gene mutation is found in CMT2. Therefore, accurate diagnosis based on genotype/phenotypic correlations is becoming more important. In this review, we describe the latest findings on the phenotypic characteristics of axonal CMT2 neuropathy. We hope that this review will be useful for clinicians in regard to the diagnosis and treatment of CMT.

• Clinical and Experimental Pediatrics
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• v.57 no.10
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• pp.457-460
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• 2014

A flaccid tetraparesis in Bickerstaff's brainstem encephalitis (BBE) is presumed to be a sign of overlapping Guillain-Barr$\acute{e}$ syndrome (GBS). In addition, BBE and Fisher syndrome, which are clinically similar and are both associated with the presence of the immunoglobulin G anti-GQ1b antibody, represent a specific autoimmune disease with a wide spectrum of symptoms that include ophthalmoplegia and ataxia. A 2-year-old boy presented with rapidly progressive ophthalmoplegia, ataxia, hyporeflexia, weakness of the lower extremities, and, subsequently, disturbance of consciousness. He experienced bronchitis with watery diarrhea and had laboratory evidence of recent infection with Epstein-Barr virus (EBV). He was diagnosed as having overlapping GBS and BBE associated with EBV and received treatment with a combination of immunoglobulin and methylprednisolone, as well as acyclovir, and had recovered completely after 3 months. In addition, he has not experienced any relapse over the past year. We suggest that combinations of symptoms and signs of central lesions (disturbance of consciousness) and peripheral lesions (ophthalmoplegia, facial weakness, limb weakness, and areflexia) are supportive of a diagnosis of overlapping GBS and BBE and can be helpful in achieving an early diagnosis, as well as for the administration of appropriate treatments.

• Annals of Clinical Neurophysiology
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• v.13 no.1
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• pp.51-53
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• 2011

Recently, we encountered a man with isolated bilateral sixth nerve palsies and areflexia whose titer of anti-GQ1b IgG antibody was elevated. We propose that bilateral sixth nerve palsies can be the sole manifestation of "anti-GQ1b antibody syndromes" and that patients with isolated bilateral sixth nerve palsies should be administered an anti-GQ1b antibody test for the diagnosis of acute immune-related neuropathy.

• Annals of Clinical Neurophysiology
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• v.6 no.1
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• pp.52-56
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• 2004

Acute motor axonal neuropathy (AMAN) is a subtype of Guillain-Barre syndrome and characterized by selective involvement of motor fibers. Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of central nervous system. The coincidence of central and peripheral nervous system involvement has been reported rarely. We described a 37-year-old male patient presented with fever and altered consciousness. The examination of cerebrospinal fluid and brain magnetic resonance imaging was compatible with acute disseminated encephalomyelitis. Several days after admissionb his mentality was improved but quadriparesis, multiple cranial neuropathies, and areflexia were detected. Electrophysiologic studies suggested axonal form of motor dominant polyneuropathy. We report a case of acute motor axonal neuropathy combined with ADEM. We consider that this case is an example of simultaneous immunologic process to the common pathogenic epitope of central nervous system and peripheral nervous system.

• Clinical and Experimental Pediatrics
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• v.57 no.12
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• pp.542-545
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• 2014

Bickerstaff's brainstem encephalitis is characterized by ophthalmoplegia, ataxia, and disturbance of consciousness. It is similar to Miller Fisher syndrome, a variant of Guillain-Barre syndrome, in that they share features such as ophthalmoplegia and ataxia. The difference is that patients with Bickerstaff's brainstem encephalitis have impaired consciousness, whereas patients with Miller Fisher syndrome have alert consciousness and areflexia. Here, we report the case of a 3-year-old child who was diagnosed with Bickerstaff's brainstem encephalitis presenting typical clinical features and interesting radiological findings. The patient showed ophthalmoplegia, ataxia, and subsequent stuporous mentality. Brain magnetic resonance imaging revealed high signal intensity in the pons and cerebellum around the 4th ventricle on a T2-weighted image. He was successfully treated with intravenous immunoglobulin. Differentiation of Bickerstaff's brainstem encephalitis and Miller Fisher syndrome is often difficult because they possess many overlapping features. Brain magnetic resonance imaging may be helpful in diagnosing Bickerstaff's brainstem encephalitis, especially when lesions are definitely found.

• Journal of Physiology & Pathology in Korean Medicine
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• v.17 no.3
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• pp.842-844
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• 2003

Miller Fisher syndrome is characterized by ophthalmoplegia, ataxia and areflexia and develops after respiratory tract viral infection. Other events are GI tract infection, vaccination, digitalis intoxication, insect bite and delivery. Diagnosis of Miller Fisher syndrome can be made with clinical history taking, cardinal symptoms and normal findings of CT or MRI. We have experienced a case of Miller Fisher syndrome and treated with herbal medicine, eletro-acupuncture at paralytic external ophthalmic muscles. We enforced electro-acupuncture for 10 minutes daily. We used the PG-306 electro-acupuncture products(Suzuki Iryoki Co. Japan) and applied the low consequence wave of 1-8Hz. In 3 months, all the main symptoms disappered and the patient improved in health. Based on this experience, herbal medicine and eletro-acupuncture can be applied to the Miller Fisher syndrome.

• Annals of Clinical Neurophysiology
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• v.4 no.1
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• pp.60-62
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• 2002

Two separate cranial nerve variants of Guillain-Barre syndrome(GBS) have been reported. One is Miller-Fisher syndrome, the other is polyneuritis cranialis. Involvement of the extraocular muscles in variants of GBS is well recognized, but complete external and internal opthalmoplegia is rare. Optic neuritis remains the only consistent, albeit very uncommon, evidence of inflammation of central nervous system myelin in GBS. This propose that GBS is part of a spectrum of central and peripheral inflammation. This case is an unusual clinical variant who had ptosis, opthalmoplegia, areflexia, ataxia, optic neurritis, marked oropharyngeal, and neck and shoulder weakness. This combined regional from is able to misdiagnose initially as botulism or diphtheria and less so, myasthenia. So if we were consider variant from of GBS, it is possible for make a correct diagnosis more easily and treatment without delay.

• Annals of Clinical Neurophysiology
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• v.4 no.1
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• pp.56-59
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• 2002

A 28-year-old man presented with headache, fever, and myalgia. Subsequently, rapidly progressive quadriplegia with areflexia developed. CSF examination revealed moderate pleocytosis and protein elevation. MRI of brain and spinal cord showed hyperintense lesions on T2-weighted image at midbrain and ventral horns along the whole spinal cord. Serial serologic examinations of CSF for Epstein-Barr virus and cytomegalovirus were negative. Culture and neutralization tests of stool and CSF for enterovirus were negative. Although the etiologic pathogen was not identified, we diagnosed him as poliomyelitis-like syndrome by clinical features and findings of MRI.

• Journal of The Korean Society of Clinical Toxicology
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• v.13 no.1
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• pp.46-49
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• 2015

Carbon monoxide (CO) intoxication is a leading cause of severe neuropsychological impairments. Peripheral nerve injury has rarely been reported. Following are brief statements describing the motor peripheral neuropathy involved bilateral lower extremities of a patient who recovered following acute carbon monoxide poisoning. After inhalation of smoke from a fire, a 60-year-old woman experienced bilateral leg weakness without edema or injury. Neurological examination showed diplegia and deep tendon areflexia in lower limbs. There was no sensory deficit in lower extremities, and no cognitive disturbances were detected. Creatine kinase was normal. Electroneuromyogram patterns were compatible with the diagnosis of bilateral axonal injury. Clinical course after normobaric oxygen and rehabilitation therapy was marked by complete recovery of neurological disorders. Peripheral neuropathy is an unusual complication of CO intoxication. Motor peripheral neuropathy involvement of bilateral lower extremities is exceptional. Various mechanisms have been implicated, including nerve compression secondary to rhabdomyolysis, nerve ischemia due to hypoxia, and direct nerve toxicity of carbon monoxide. Prognosis is commonly excellent without sequelae. Emergency physicians should understand the possible-neurologic presentations of CO intoxication and make a proper decision regarding treatment.