A 77-year-old man developed diplopia, gait ataxia, and paresthesia. A clinical examination also revealed ophthalmoplegia, facial palsy, ataxia of the limbs and trunk, and reduced deep tender reflexes. Laboratory and electrophysiological studies revealed albuminocytological dissociation and demyelination. He was diagnosed as Miller-Fisher syndrome and received intravenous immunoglobulin therapy. His clinical symptoms deteriorated at 12 weeks after onset. We diagnosed acute-onset chronic inflammatory demyelinating polyradiculoneuropathy, and which the patient recovered from following corticosteroid therapy.
Aged ; Ataxia ; Demyelinating Diseases ; Diplopia ; Extremities ; Facial Paralysis ; Gait Ataxia ; Guillain-Barre Syndrome ; Humans ; Immunization, Passive ; Miller Fisher Syndrome* ; Ophthalmoplegia ; Paresthesia ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating* ; Reflex

A 77-year-old man developed diplopia, gait ataxia, and paresthesia. A clinical examination also revealed ophthalmoplegia, facial palsy, ataxia of the limbs and trunk, and reduced deep tender reflexes. Laboratory and electrophysiological studies revealed albuminocytological dissociation and demyelination. He was diagnosed as Miller-Fisher syndrome and received intravenous immunoglobulin therapy. His clinical symptoms deteriorated at 12 weeks after onset. We diagnosed acute-onset chronic inflammatory demyelinating polyradiculoneuropathy, and which the patient recovered from following corticosteroid therapy.
Aged ; Ataxia ; Demyelinating Diseases ; Diplopia ; Extremities ; Facial Paralysis ; Gait Ataxia ; Guillain-Barre Syndrome ; Humans ; Immunization, Passive ; Miller Fisher Syndrome* ; Ophthalmoplegia ; Paresthesia ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating* ; Reflex

Miller-Fisher syndrome is an acute poly-neuropathy typically characterized by the triad of ophthalmoplegia, ataxia, and areflexia. Other poly-neuropathy diseases include Guillain-Barre syndrome and Bickerstaff brainstem encephalitis. However, not all cases of Miller-Fisher syndrome have the typical three symptoms. These diseases have been differentiated by clinical manifestations and anti-GQ1b IgG antibody testing. In Miller-Fisher syndrome, anti-GQ1b IgG antibody is present in over 95% of patients; however, the frequency is not so high in normal subjects or in those with other poly-neuropathy diseases. Infectious illnesses, such as respiratory diseases and gastrointestinal diseases, usually precede Miller-Fisher syndrome. In general, Miller-Fisher syndrome is a self-limiting illness; however, a few cases of Miller-Fisher syndrome progressing to respiratory failure have been reported, particularly in children. In this case, we report abnormal angiographic findings. We report a case of atypical Miller-Fisher syndrome with internal carotid artery stenosis treated with prednisolone.
Ataxia ; Brain Stem ; Carotid Artery, Internal ; Carotid Stenosis ; Child ; Encephalitis ; Gastrointestinal Diseases ; Guillain-Barre Syndrome ; Humans ; Immunoglobulin G ; Miller Fisher Syndrome ; Ophthalmoplegia ; Polyneuropathies ; Prednisolone ; Respiratory Insufficiency

Guillain-Barré syndrome (GBS) is a representative form of post-infectious autoimmune neuropathy with heterogenous manifestations. It was originally considered as an ascending demyelinating polyneuropathy in Western countries. However, the discovery of anti-ganglioside antibodies on the basis of molecular mimicry theory could help us better understand various kinds of focal and regional variants as well as axonal type of GBS those were frequently found from Asian countries. Recent development of new techniques about anti-ganglioside complex antibodies is making more detailed descriptions for specific or unusual clinical manifestations. It has been regarded that GBS has good prognosis if treated properly as early as possible, but it still shows high mortality and morbidity rate with frequent long term neurologic and medical complications. Unfortunately, there are only two options for medical treatment, intravenous immunoglobulin and plasmapheresis, for the last 100 years. Several clinical studies on new immunotherapy targeting complement activating system with background of molecular mimicry using animal model are underway. We hope that these new treatments will be helpful for the future patients.
Antibodies ; Asian Continental Ancestry Group ; Axons ; Complement System Proteins ; Gangliosides ; Guillain-Barre Syndrome ; Hope ; Humans ; Immunoglobulins ; Immunotherapy ; Miller Fisher Syndrome ; Models, Animal ; Molecular Mimicry ; Mortality ; Plasmapheresis ; Polyneuropathies ; Prognosis

No abstract available.
Gangliosides ; Guillain-Barre Syndrome ; Immunoglobulin G ; Miller Fisher Syndrome

Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into several subtypes. Here, we review the most recent findings in the molecular diagnosis and therapeutic strategy for hereditary peripheral neuropathies. The products of genes associated with hereditary peripheral neuropathy phenotypes are important for neuronal structure maintenance, axonal transport, nerve signal transduction, and functions related to the cellular integrity. Identifying the molecular basis of hereditary peripheral neuropathy and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, as well as the processes involved in the normal development and function of the peripheral nervous system. These advances and the better understanding of the pathogenesis of peripheral neuropathies represent a challenge for the diagnoses and managements of hereditary peripheral neuropathy patients in developing future supportive and curative therapies.
Axonal Transport ; Hereditary Sensory and Autonomic Neuropathies ; Hereditary Sensory and Motor Neuropathy ; Humans ; Neurodegenerative Diseases ; Neurons ; Peripheral Nervous System ; Peripheral Nervous System Diseases ; Phenotype ; Signal Transduction ; Wills

To present a case of cauda equina syndrome (CES) caused by chronic inflammatory demyelinating polyneuropathy (CIDP) which seemed clinically similar to Charcot-Marie-Tooth disease type1 (CMT1). CIDP is an immune-mediated polyneuropathy, either progressive or relapsing-remitting. It is a non-hereditary disorder characterized by symmetrical motor and sensory deficits. Rarely, spinal nerve roots can be involved, leading to CES by hypertrophic cauda equina. A 34-year-old man presented with low back pain, radicular pain, bilateral lower-extremity weakness, urinary incontinence, and constipation. He had had musculoskeletal deformities, such as hammertoes and pes cavus, since age 10. Lumbar spine magnetic resonance imaging showed diffuse thickening of the cauda equina. Electrophysiological testing showed increased distal latency, conduction blocks, temporal dispersion, and severe nerve conduction velocity slowing (3 m/s). We were not able to find genetic mutations at the PMP 22, MPZ, PRX, and EGR2 genes. The pathologic findings of the sural nerve biopsy revealed thinly myelinated nerve fibers with Schwann cells proliferation. We performed a decompressive laminectomy, intravenous IgG (IV-IgG) and oral steroid. At 1 week after surgery, most of his symptoms showed marked improvements except foot deformities. There was no relapse or aggravation of disease for 3 years. We diagnosed the case as an early-onset CIDP with cauda equine syndrome, whose initial clinical findings were similar to those of CMT1, and successfully managed with decompressive laminectomy, IV-IgG and oral steroid.
Adult ; Biopsy ; Cauda Equina ; Charcot-Marie-Tooth Disease* ; Congenital Abnormalities ; Constipation ; Foot Deformities ; Humans ; Immunoglobulin G ; Laminectomy ; Low Back Pain ; Magnetic Resonance Imaging ; Nerve Fibers, Myelinated ; Neural Conduction ; Polyneuropathies* ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating ; Polyradiculopathy* ; Recurrence ; Schwann Cells ; Spinal Nerve Roots ; Spine ; Sural Nerve ; Urinary Incontinence

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing symmetric sensorimotor disorder presumed to occur because of immunologic antibody-mediated reactions. To understand the clinical courses of CIDP, we report variable CIDP courses in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval. Four patients who were diagnosed with acute-onset and relapsing CIDP courses at Severance Children's Hospital, Seoul, Korea, were enrolled in this retrospective study. We diagnosed each patient on the basis of the CIDP diagnostic criteria developed in 2010 by the European Federation of Neurological Societies/Peripheral Nerve Society Guidelines. We present the cases of four pediatric patients diagnosed with CIDP to understand the variable clinical course of the disease in children. Our four patients were all between 8 and 12 years of age. Patients 1 and 2 were diagnosed with acute cerebellar ataxia or Guillain-Barre syndrome as initial symptoms. While patients 1 and 4 were given only intravenous dexamethasone (0.3 mg/kg/day) for 5 days at the first episode, Patients 2 and 3 were given a combination of intravenous immunoglobulin (2 g/kg) and dexamethasone (0.3 mg/kg/day). All patients were maintained with oral prednisolone at 30 mg/day, but their clinical courses were variable in both relapse intervals and severity. We experienced variable clinical courses of CIDP in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval.
Cerebellar Ataxia ; Child* ; Dexamethasone ; Electromyography ; Guillain-Barre Syndrome ; Humans ; Immunoglobulins ; Korea ; Neural Conduction ; Polyneuropathies* ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating ; Prednisolone ; Recurrence ; Retrospective Studies ; Seoul

BACKGROUND: Mutations in the gene encoding periaxin (PRX) are known to cause autosomal recessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean patients with these mutations. CASE REPORT: We examined a Korean DSN patient with an early-onset, slowly progressive, demyelinating neuropathy with prominent sensory involvement. Whole-exome sequencing and subsequent capillary sequencing revealed novel compound heterozygous nonsense mutations (p.R392X and p.R679X) in PRX. One mutation was transmitted from each of the patient's parents. No unaffected family member had both mutations, and the mutations were not found in healthy controls. CONCLUSIONS: We believe that these novel compound heterozygous nonsense mutations are the underlying cause of DSN. The clinical, electrophysiologic, and pathologic phenotypes in this family were similar to those described previously for patients with PRX mutations. We have identified the first PRX mutation in a Korean patient with DSN.
Capillaries ; Charcot-Marie-Tooth Disease ; Codon, Nonsense ; Hereditary Sensory and Motor Neuropathy* ; Humans ; Parents ; Peripheral Nerves ; Phenotype

The anti-GQ1b IgG antibody is associated with Guillain-Barre syndrome (GBS) with ophthalmoplegia, Bickerstaff's brainstem encephalitis, acute ophthalmoparesis without ataxia, and ataxic GBS without ophthalmoplegia as well as Miller Fisher syndrome. Only limited numbers of patients with acute ophthalmoparesis without ataxia are known to show internal ophthalmoplegia. We report three patients with internal ophthalmoplegia from anti-GQ1b antibody syndrome.
Ataxia ; Brain Stem ; Encephalitis ; Guillain-Barre Syndrome ; Humans ; Immunoglobulin G ; Miller Fisher Syndrome ; Ophthalmoplegia*