Lissencephaly results from a neuromigrational arrest during first and second trimester of pregnancy and shows hypotonia, marked mental retardation and seizure as predominant features. Myelination is a perinatal process and co-occurence of migrational disorder with myelination disorder is rare. We report a 17-month-old male with mixed quadriplegia and mental retardation with type 1 lissencephaly and dysmyelination of cerebral white matter diagnosed by magnetic resonance imaging.
Classical Lissencephalies and Subcortical Band Heterotopias ; Female ; Humans ; Infant ; Intellectual Disability ; Lissencephaly* ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia ; Myelin Sheath ; Pregnancy ; Pregnancy Trimester, Second ; Quadriplegia* ; Seizures

Fumarase catalyzes the conversion of fumarate to malate in the Krebs cycle. Fumarase deficiency is a rare inborn error of metabolism and is inherited in an autosomal recessive manner. It causes mitochondrial encephalomyopathy. The symptom is characterized by developmental delay and hypotonia. We report here a case of a 32-month-old child who was initially refered because of spastic quadriplegia, delayed development and poor feeding.
Child ; Child, Preschool ; Citric Acid Cycle ; Fumarate Hydratase* ; Humans ; Metabolism ; Mitochondrial Encephalomyopathies ; Muscle Hypotonia ; Muscle Spasticity* ; Quadriplegia*

Aicardi syndrome is defined by the clinical triad infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Infantile spasm begins at early infancy and tends to be controlled poorly. The prognosis is poor in the patient with severe developmental delay and intractable seizures being common. We present a case of Aicardi syndrome in the 9-month-old female infant with infantile spasm, spastic tetraplegia and microcephaly. Her brain MRI revealed corpus callosum agenesis, atrophy of left hemisphere and periventricular heterotopia. She showed bilateral choroidal and optic disc coloboma. We report this case with the review of literatures.
Agenesis of Corpus Callosum ; Aicardi Syndrome* ; Atrophy ; Brain ; Choroid ; Coloboma ; Corpus Callosum ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Microcephaly ; Periventricular Nodular Heterotopia ; Prognosis ; Quadriplegia ; Seizures ; Spasms, Infantile

Although it is known that neuronal cell death during development occurs by apoptosis, the mechanisms underlying excitatory amino acid-induced neuronal cell death remain poorly understood. In this study we have examined the mechanism by which L-glutamate, an excitatory amino acid neurotransmitter, induces cell death in PC12 cell lines. To characterize cell death, we employed sandwich enzyme-linked immunosorbent assay (ELISA) method for cellular DNA fragmentation, DNA agarose gel electrophoresis and chromatin staining by acridine orange and ethidium bromide after treating the PC12 cells with L-glutamate. L-Glutamate caused dose-dependent cell death with a maximum at 24 hrs after the treatment. These cellular fragmentation was blocked by pretreatment of MK-801, a noncompetitive N-methyl-D-aspartic acid (NMDA) receptor antagonist, and nerve growth factor(NGF). Analysis of DNA integrity from L-glutamate-treated cells revealed cleavage of DNA into regular sized fragments, a biochemical hallmark of apoptosis. The PC12 cells that were induced to die by L-glutamate treatment exhibited classical chromatin condensation under the light microscopy after acridine orange and ethidium bromide staining. These results suggest that apoptosis is one of the key features that are involved in L-glutamate-induced excitotoxic cell death in PC12 cells, and these cell death are mediated by NMDA receptor and depend on NGF.
Acridine Orange ; Animals ; Apoptosis ; Cell Death ; Chromatin ; Dizocilpine Maleate ; DNA ; DNA Fragmentation ; Electrophoresis, Agar Gel ; Enzyme-Linked Immunosorbent Assay ; Ethidium ; Excitatory Amino Acids ; Glutamic Acid ; Microscopy ; N-Methylaspartate ; Nerve Growth Factor ; Neurons ; Neurotransmitter Agents ; PC12 Cells*

OBJECTIVE: To determinate the reference values of residual latencies of motor nerves and to evaluate the early diagnostic value of residual latency. METHOD: The subjects were 129 diabetes mellitus patients and 60 controls with no known neurological disorders. The patients were divided into two groups based on the conventional nerve conduction study: Group 1, 75 patients without neuropathy; Group 2, 54 patients with neuropathy. The group 2 patients were subdivided into 4 sub- groups on the basis of conduction velocity and residual latency of the median nerve. Residual latencies were measured in all subjects and glycosylated hemoglobin percentages (HbA1c) were measured in the diabetes patients. In group 2, each nerve conduction parameter was correlated with the duration of diabetes and HbA1c. The duration of diabetes, HbA1c, and amplitude of median nerve response were compared between the subgroups of group 2 patients. RESULTS: Motor residual latencies obtained from the controls were 1.93+/-0.28 msec, 1.53+/-0.24 msec, 2.46+/-0.43 msec, 2.21+/-0.53 msec in median, ulnar, deep peroneal and posterior tibial nerves, respectively. In group 1, motor residual latencies of median & deep peroneal nerves were significantly delayed compared with those of the controls. In group 2, motor residual latencies of median, ulnar, deep peroneal and posterior tibial nerves were significantly delayed more than those of the controls and group 1. In group 2, increased HbA1c correlated to the decreased conduction velocities of median, deep peroneal, posterior tibial nerves but not to the residual latencies. In the subgroup of group 2 (2-D), the nerve involved more distally showing lower compound muscle action potential and higher HbA1c. CONCLUSION: Residual latency measurement can be a useful diagnostic method for the early detection of diabetic neuropathy.
Action Potentials ; Diabetes Mellitus ; Diabetic Neuropathies* ; Diagnosis* ; Hemoglobin A, Glycosylated ; Humans ; Median Nerve ; Nervous System Diseases ; Neural Conduction ; Peroneal Nerve ; Reference Values ; Tibial Nerve

Mitochondrial neurogastrointestinal encephalomyopahty (MNGIE) is a rare disorder and is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms with intestinal dysmotility, and histologically abnormal mitochondria in muscle. A 32-year-old female showed external ophthalmoparesis, bilateral ptosis, quadriparesis, and sensory change below both ankle joints. Level of serum lactic acid was highly increased. The brain MRI showed diffusely increased signal intensity in the centrum semiovale and white matter. Electron microscopic finding showed paracrystalline inclusions in mitochondria of a few muscle fibers. (J Korean Neurol Assoc 19(3):309~312, 2001)
Adult ; Ankle Joint ; Brain ; Female ; Humans ; Lactic Acid ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Mitochondria ; Mitochondrial Encephalomyopathies ; Ophthalmoplegia ; Peripheral Nervous System Diseases ; Quadriplegia

PURPOSE: To evaluate the results of surgical reconstruction of lateral capsule-ligament complex with reinforcement by periosteal flap of distal fibula and inferior extensor retinaculum for chronic lateral ankle instability. MATERIALS AND METHODS: From April 2003 to August 2006, 62 patients with chronic lateral ankle instability were operated. There were 38 males and 24 females with a mean age of 39.6 years (range, 18~61 years). Mean follow-up period was 32 months (range, 10~48 months). All patients were checked with preoperative ankle anteroposterior and lateral view, stress anterior drawer and varus test using Telos device. The clinical results were graded according to the VAS and AOFAS scale. RESULTS: VAS score improved from preoperative 8.2 points to 3.1 points. There were 38 patients who were excellent (above 90 points), 18 who were good (between 76 and 90 points), 5 who were fair (between 60 and 75 points), and 1 who was poor (below 60 points) according to the AOFAS ankle and hindfoot scale. The excellent and good results amounted to 90.3%. CONCLUSION: Surgical reconstruction of lateral capsule-ligament complex with reinforcement by periosteal flap of distal fibula and inferior extensor retinaculum is believed to be a effective method for chronic lateral ankle instability.
Ankle Joint ; Ankle* ; Female ; Fibula* ; Follow-Up Studies ; Humans ; Male

PURPOSE: To investigate differences in clinical features, blood/urinary findings, and prognosis in different age groups of patients with Henoch-Schönlein purpura (HSP). METHODS: A total of 469 patients with HSP were analyzed retrospectively from June 2003 to February 2016. We classified patients into child or adult groups based on their age. RESULTS: The adult group had more patients with anemia (child vs. adult; 7.5% vs. 16.4%), and higher immunoglobulin A (IgA) (30.0% vs. 50.0%) levels, C-reactive protein (34.2% vs. 54.0%) and uric acid (3.1% vs. 12.1%) levels than the child group. The child group was highly positive for Mycoplasma pneumoniae immunoglobulin M (IgM) (34.4%). More patients in the child group presented with high levels of antistreptolysin O (24.7% vs. 2.9%) and high C4 (11.5% vs. 4.2%). Low C3 (1.1% vs. 10.2%) levels, and renal involvement with gross hematuria (8.6% vs. 21.5%), nonnephrotic proteinuria (1.1% vs. 11.2%), and nephrotic syndrome (1.1% vs. 6.0%) were common in the adult group. Adults also had poorer renal outcomes [persistent hematuria/proteinuria (10.5% vs. 32.8%), and chronic kidney disease (0% vs. 11.2%)] than the child group. Risk factors for renal involvement such as older age and higher level of uric acid were only found in the child group. The risk factors for poor renal outcome were nephrotic syndrome in the child group and gross hematuria in the adult group. CONCLUSION: In this study, child and adult groups presented with different clinical manifestations of HSP. We found that risk factors for renal involvement included age and high uric acid level in the child group. Moreover, nephrotic syndrome in the child group and gross hematuria in the adult group increased the risk of poor renal outcome.
Adult* ; Anemia ; Antistreptolysin ; C-Reactive Protein ; Child* ; Hematuria ; Humans ; Immunoglobulin A ; Immunoglobulin M ; Mycoplasma pneumoniae ; Nephrotic Syndrome ; Pneumonia, Mycoplasma ; Prognosis* ; Proteinuria ; Purpura* ; Renal Insufficiency, Chronic ; Retrospective Studies* ; Risk Factors ; Uric Acid

PURPOSE: To investigate differences in clinical features, blood/urinary findings, and prognosis in different age groups of patients with Henoch-Schönlein purpura (HSP). METHODS: A total of 469 patients with HSP were analyzed retrospectively from June 2003 to February 2016. We classified patients into child or adult groups based on their age. RESULTS: The adult group had more patients with anemia (child vs. adult; 7.5% vs. 16.4%), and higher immunoglobulin A (IgA) (30.0% vs. 50.0%) levels, C-reactive protein (34.2% vs. 54.0%) and uric acid (3.1% vs. 12.1%) levels than the child group. The child group was highly positive for Mycoplasma pneumoniae immunoglobulin M (IgM) (34.4%). More patients in the child group presented with high levels of antistreptolysin O (24.7% vs. 2.9%) and high C4 (11.5% vs. 4.2%). Low C3 (1.1% vs. 10.2%) levels, and renal involvement with gross hematuria (8.6% vs. 21.5%), nonnephrotic proteinuria (1.1% vs. 11.2%), and nephrotic syndrome (1.1% vs. 6.0%) were common in the adult group. Adults also had poorer renal outcomes [persistent hematuria/proteinuria (10.5% vs. 32.8%), and chronic kidney disease (0% vs. 11.2%)] than the child group. Risk factors for renal involvement such as older age and higher level of uric acid were only found in the child group. The risk factors for poor renal outcome were nephrotic syndrome in the child group and gross hematuria in the adult group. CONCLUSION: In this study, child and adult groups presented with different clinical manifestations of HSP. We found that risk factors for renal involvement included age and high uric acid level in the child group. Moreover, nephrotic syndrome in the child group and gross hematuria in the adult group increased the risk of poor renal outcome.
Adult* ; Anemia ; Antistreptolysin ; C-Reactive Protein ; Child* ; Hematuria ; Humans ; Immunoglobulin A ; Immunoglobulin M ; Mycoplasma pneumoniae ; Nephrotic Syndrome ; Pneumonia, Mycoplasma ; Prognosis* ; Proteinuria ; Purpura* ; Renal Insufficiency, Chronic ; Retrospective Studies* ; Risk Factors ; Uric Acid

We had experienced 2 cases of acute phlegmonous gastritis confirmed by endoscopy, microbiological study and surgical pathologic findings. The first was a 61- year-old female who had been diagnosed as the communicating hydrocephalus and the other was a healthy 60-year-old female. Enterococcus fecalis & Klebsiella pneumoniae, Enterococcus fecalis & E.coli were cultured from the gastric tissue and juice obtained by endoscopy in each patient. In both patients, endoscopic findings showed numerous large ulcers and edema with necrotic material and exudate over the whole stomach. Operation findings were markedly edematous and overall ulcerative mucosa in one patient, and hyperemic outlet stricture in the other. Pathologic findings were acute necrotizing inflammation, involving the mucosa and submucosal layer, consistent with acute phlegmonous gastritis. After operation and antibiotics therapy, the patients were rapidly improved. We reported 2 cases of acute phlegmonous gastritis with the review of literature.
Anti-Bacterial Agents ; Cellulitis* ; Constriction, Pathologic ; Edema ; Endoscopy ; Enterococcus ; Exudates and Transudates ; Female ; Gastritis* ; Humans ; Hydrocephalus ; Inflammation ; Klebsiella pneumoniae ; Middle Aged ; Mucous Membrane ; Stomach ; Ulcer