No abstract available.
Foot* ; Hand* ; Paresthesia*

Authors report a typical case of congenital fiber type disproportion (CFTD) with unique clinicopathologic characteristics. The patient was a 13-year-old boy who presented with weakness of lower extremities, especially proximal muscle, since his infancy. He has suffered from severe scoliosis which got worse since the age of 12. He showed mild dysarthria, high arched palate, and fish face. All routine laboratory data were within normal limits. EMG findings suggested myopathy. The muscle biopsy revealed fiber type disproportion with type 1 predominance. While most of the type 1 myofibers were atrophic or normal in size, the type 2 fibers showed universal hypertrophy. The difference of mean diameter between the larger and the smaller fibers was 27.9%. The patient's clinicopathologic settings fulfilled the criteria of CFTD.
Adolescent ; Biopsy ; Dysarthria ; Humans ; Hypertrophy ; Lower Extremity ; Male ; Muscular Diseases* ; Myopathies, Structural, Congenital* ; Palate ; Scoliosis

No abstract available.
Anterior Cruciate Ligament* ; Knee*

No abstract available.
Korea* ; Lung Neoplasms* ; Lung*

Paraneoplastic syndrome is a rare neurologic disorder caused not by the direct invasion or metastasis of cancer, but by the remote effects of cancer. The central- and peripheral-nervous system or neuromuscular junction area were involved in this syndrome. The pathogenesis was thought as the autoimmune disease, the result of an immunologic response to cancer and to cross-react with self-cells of the nervous system or of the neuromuscular junction, causing neuronal dam-age. Specific forms of this syndrome are often associated with specific paraneoplastic autoantibodies and cancer. The onset of neurological symptoms and detection of these antibodies often precede the diagnosis of the cancer; therefore, detection of these antibodies greatly assists the diagnosis of this syndrome and prompts investigations for the underly-ing cancer. Some paraneoplastic central neurological syndromes, such as cerebellar degeneration, limbic encephalitis, and necrotizing myelitis, were not improved by putative pathogenic autoantibodies, or by immunosuppresant or tumor removal, inspite of improvement in other peripheral neurologic syndrome, Lambert-Eaton myasthenic syndrome, neu-romyotonia, and Stiff-man syndrome. A more detailed understanding of the relationship between the cancer and the neural involvement from the molecular biological standpoint may lead to rational tumor therapy and elucidation of the mechanism of neural death. Here, major clinical forms with well-known antineuronal antibodies and specific cancers are reviewed.
Antibodies ; Autoantibodies ; Autoimmune Diseases ; Diagnosis ; Lambert-Eaton Myasthenic Syndrome ; Limbic Encephalitis ; Myelitis, Transverse ; Neoplasm Metastasis ; Nervous System ; Nervous System Diseases ; Neuromuscular Junction ; Neurons ; Paraneoplastic Syndromes* ; Small Cell Lung Carcinoma ; Stiff-Person Syndrome

Radiation-induced neuropathy is a rare but well recognized clinical entity although peripheral nerves are considered to be relatively resistant to irradiation. We report three patients with radiation-induced lumbosacral plexopathy, whose characteristic clinical and electrophysiological features can be summarized as follows: 1) 55-58 year old women who were previously treated with radiotherapy for uterine cervix carcinoma: 2) the latent period is to 10 from 13 years: 3)predominantly motor involvement with slowly progressive paraparesis, asymmetrical onset and worse in distal muscle group: 4) painless at onset, with variable degree of sensorv changes: 5)decreased or absent knee and ankle jerks :6)axonal damage in electrophysiologic study: 7)frequent myokymic discharges. Myokymic discharges occur in bursts at regular rate of 0.1 to 8 Hz. In myokymic bursts with more spikes, interburst interval is longer but interspike Interval is shorter.
Ankle ; Cervix Uteri ; Female ; Humans ; Knee ; Paraparesis ; Peripheral Nerves ; Radiotherapy

BACKGROUND: Critical illness polyneuropathy(CIP) is a recognized cause of muscle weakness and failure of weaning from a ventilator during the course of sepsis and multi-organ failure. We experienced seven patients of polyneuropathy associated with critical illness, and reviewed the cases in order to characterize the clinical features of CIP. METHODS: We evaluated seven patients who developed polyneuropathy for the first time during intensive care at the Asan Medical Center from Feb, 1998 to Mar, 1999. RESULTS: CIP occurred usually 2-8 weeks after admission to the intensive care unit. All patients received ventilator care due to severe pulmonary problems, which included pneumonia, ARDS, and empyema. Five of them had sepsis. All patients had quadriparesis prominently in the distal area, muscle atrophy, decreased tendon reflexes, and distal hypoesthesia. Electrophysiological and pathologic studies were compatible with axonal polyneuropathy. Five patients recovered from the underlying critical illness and regained their muscle power with improved findings on follow-up nerve conduction studies. CONCLUSIONS: Critical illness should be considered as a cause of polyneuropathy in severely ill patients, especially if associated with sepsis. After recovery from illness, motor weakness as well as electrophysiological findings improved. Failure of weaning from a ventilator may be more affected by pre-existing cardiopulmonary problems than CIP.
Axons ; Chungcheongnam-do ; Critical Illness* ; Empyema ; Follow-Up Studies ; Humans ; Hypesthesia ; Critical Care ; Intensive Care Units ; Muscle Weakness ; Muscular Atrophy ; Neural Conduction ; Pneumonia ; Polyneuropathies* ; Quadriplegia ; Reflex, Stretch ; Sepsis ; Ventilator Weaning ; Ventilators, Mechanical ; Weaning

BACKGROUND: Critical illness polyneuropathy(CIP) is a recognized cause of muscle weakness and failure of weaning from a ventilator during the course of sepsis and multi-organ failure. We experienced seven patients of polyneuropathy associated with critical illness, and reviewed the cases in order to characterize the clinical features of CIP. METHODS: We evaluated seven patients who developed polyneuropathy for the first time during intensive care at the Asan Medical Center from Feb, 1998 to Mar, 1999. RESULTS: CIP occurred usually 2-8 weeks after admission to the intensive care unit. All patients received ventilator care due to severe pulmonary problems, which included pneumonia, ARDS, and empyema. Five of them had sepsis. All patients had quadriparesis prominently in the distal area, muscle atrophy, decreased tendon reflexes, and distal hypoesthesia. Electrophysiological and pathologic studies were compatible with axonal polyneuropathy. Five patients recovered from the underlying critical illness and regained their muscle power with improved findings on follow-up nerve conduction studies. CONCLUSIONS: Critical illness should be considered as a cause of polyneuropathy in severely ill patients, especially if associated with sepsis. After recovery from illness, motor weakness as well as electrophysiological findings improved. Failure of weaning from a ventilator may be more affected by pre-existing cardiopulmonary problems than CIP.
Axons ; Chungcheongnam-do ; Critical Illness* ; Empyema ; Follow-Up Studies ; Humans ; Hypesthesia ; Critical Care ; Intensive Care Units ; Muscle Weakness ; Muscular Atrophy ; Neural Conduction ; Pneumonia ; Polyneuropathies* ; Quadriplegia ; Reflex, Stretch ; Sepsis ; Ventilator Weaning ; Ventilators, Mechanical ; Weaning

BACKGROUND: The clinical and laboratory findings of five patients with tonic pupil (TP) and neuropathy were reviewed for the comprehension of pathogenesis of TP in neuropathy. METHODS: Immunological and nerve conduction studies (NCS) were performed in three patients with Sjogren's syndrome (SS), Miller-Fisher syndrome (MFS), and Adie's syndrome. RESULTS: Upon initial examination, there were no definite sicca syndromes in patients of SS, despite intolerable sensory symptoms. The TP in MFS was improved after intravenous immunoglobulin. Of the cranial neu-ropathies, trigeminal sensory neuropathy was frequent finding. Deep tendon reflexes were absent in all five patients.Absent sensory nerve action potentials and prolonged R1 and R2 of the blink reflex were detected in two SS patients with syncope and asymmetric sensory loss. CONCLUSIONS: These findings in SS patients implicated the possibility of a selective lesion at the level of the dorsal root- or trigeminal- or autonomic- ganglions complicating the TP. In view of the sensory ataxia, opthalmoplegia, areflexia, slow and decreased sensory NCS in the extremity and prolonged R1 and R2, a demyelinating process of postganglionic parasympathetic nerves were suspected to be the cause of the tonic pupil in MFS. Adie's syndrome along with flushing of the left side of the face and chest after exercise, suggested segmental postganglionic lesions of the sympathetic and parasympathetic peripheral nervous systems. In patients with complicat-ing TP and asymmetric progressive sensory neuropathy, the SS has to be considered even if the patient denies the pres-ence of sicca symptoms at first and SS-A/SS-B autoantibody is negative.
Action Potentials ; Adie Syndrome ; Ataxia ; Autoantibodies ; Blinking ; Comprehension ; Extremities ; Flushing ; Ganglion Cysts ; Humans ; Immunoglobulins ; Miller Fisher Syndrome ; Neural Conduction ; Peripheral Nervous System ; Reflex, Stretch ; Sjogren's Syndrome ; Syncope ; Thorax ; Tonic Pupil*

Multiple sclerosis (MS) is the most common demyelinating disease affecting the central nervous system of young adults living in the western world. MS should be strongly suspected when a young adult develops one or more neurological episodes consistent with damage to white matter within the central nervous system (CNS), especially when these affect the optic nerves, brainstem, or spinal cord. The patient with relapses, each of which can be attributed to demyelination in the CNS, requires no investigation prior to establishing the diagnosis of clinically definite MS. For a diagnosis of MS, separate anatomical sites within the CNS must have been affected on different occasions, typically three. MS in Asian populations is characterized by the selective and dominant involvement of the optic nerve and spinal cord with some incidence of brainstem lesions. 35-40% of MS cases in Korea are of this optico-spinal type with or without brainstem lesions. Reported cases of neuromyelitis optica spectrum disease (NMOSD), causing severe optic neuritis (ON) and/or longitudinally extensive transverse myelitis, either monophase or with a relapse-remitting pattern, some of which were diagnosed previously as the optico-spinal form of MS in Asia, have increased annually in Korea with the development of the NMO-IgG or aquaporin4-antibody detecting technique. NMO-IgG detection is very important in the diagnosis of early stage of NMOSD and the differentiation of MS and other demyelinating disease. Many new convenient oral drugs or very potent intravenous monoclonal antibodies for targeting VLA-4, CD20, and CD52 may decrease the annual relapse rate and burden of brain-spinal cord lesionsin MS.
Antibodies, Monoclonal ; Asia ; Asian Continental Ancestry Group ; Brain Stem ; Central Nervous System ; Demyelinating Diseases ; Humans ; Incidence ; Integrin alpha4beta1 ; Korea ; Multiple Sclerosis ; Myelitis, Transverse ; Neuromyelitis Optica ; Optic Nerve ; Optic Neuritis ; Recurrence ; Spinal Cord ; Western World ; Young Adult