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1.
Journal of Clinical Neurology ; : 340-350, 2017.
Article in English | WPRIM | ID: wpr-88558

ABSTRACT

BACKGROUND AND PURPOSE: The purpose of this study was to characterize abnormal cortical activity during sleep in restless legs syndrome (RLS) patients and to determine the effects of treatment with a dopamine agonist. Based on whole-brain electroencephalograms, we attempted to verify alterations in the functional network as well as the spectral power of neural activities during sleep in RLS patients and to determine whether the changes are reversed by treatment with pramipexole. METHODS: Twelve drug-naïve RLS patients participated in the study. Overnight polysomnography was performed before and after treatment: the first recording was made immediately prior to administering the first dose of pramipexole, and the second recording was made 12–16 weeks after commencing pramipexole administration. Sixteen age-matched healthy participants served as a control group. The spectral power and interregional phase synchrony were analyzed in 30-s epochs. The functional characteristics of the cortical network were quantified using graph-theory measures. RESULTS: The delta-band power was significantly increased and the small-world network characteristics in the delta band were disrupted in RLS patients compared to the healthy controls. These abnormalities were successfully treated by dopaminergic medication. The delta-band power was significantly correlated with the RLS severity score in the RLS patients prior to treatment. CONCLUSIONS: Our findings suggest that the spectral and functional network characteristics of neural activities during sleep become abnormal in RLS patients, and these abnormalities can be successfully treated by a dopamine agonist.


Subject(s)
Humans , Delta Rhythm , Dopamine Agonists , Dopamine , Electroencephalography , Healthy Volunteers , Polysomnography , Restless Legs Syndrome
2.
Korean Journal of Legal Medicine ; : 84-89, 2013.
Article in English | WPRIM | ID: wpr-35115

ABSTRACT

A 9-year-old Korean boy with lissencephaly was found dead at home. He had previously been diagnosed with lissencephaly that presented with infantile spasm on the basis of magnetic resonance imaging and electroencephalogram results. Antemortem chromosomal banding revealed a normal karyotype. A legal autopsy was requested to eliminate the possibility of neglect or abuse by his parents. The autopsy findings revealed type I lissencephaly with the associated microcephaly. No external wounds or decubitus ulcers were noted. Postmortem fluorescence in situ hybridization for the LIS1 locus and nucleotide sequence analysis of the whole coding regions of the LIS1 gene did not reveal any deletions. The antemortem and postmortem findings revealed that lissencephaly syndrome was associated with isolated lissencephaly sequence. External causes of death were excluded by the full autopsy and toxicology test results. Because patients with mental retardation are frequently victimized and suffer neglect or abuse, thorough external and internal examinations should be conducted at the time of autopsy.


Subject(s)
Child , Humans , Infant , Infant, Newborn , Autopsy , Base Sequence , Cause of Death , Child Abuse , Classical Lissencephalies and Subcortical Band Heterotopias , Clinical Coding , Electroencephalography , Fluorescence , Forensic Pathology , In Situ Hybridization , Intellectual Disability , Karyotype , Lissencephaly , Magnetic Resonance Imaging , Microcephaly , Parents , Pressure Ulcer , Spasms, Infantile , Toxicology
3.
Journal of the Korean Child Neurology Society ; : 91-99, 2010.
Article in Korean | WPRIM | ID: wpr-208702

ABSTRACT

PURPOSE: Guillain-Barre Syndrome(GBS) is an inflammatory polyneuropathy characterized by progressive, symmetric weakness and areflexia. GBS is currently subdivided into AIDP(acute inflammatory demyelinating polyneuropathy), AMAN(acute motor axonal neuropathy), AMSAN(acute motor sensory axonal neuropathy), and other subtypes based on results from electrophysiological studies. Our study is intended to evaluate the clinical characteristics and prognosis of pediatric GBS and its subtypes. METHODS: From January 1999 to June 2009, We retrospectively reviewed of fifty patients with GBS the clinical manifestations and laboratory findings at the Asan Medical Center. Forty-six patients were classified into subtypes based on the results from electrophysiological studies. RESULTS: Forty-five(90.0%) patients exhibited lower limb weakness, 26(56.5%) patients had both lower and upper limb weakness, and eleven(23.9%) had sensory nerve involvement seen at their initial presentation. Of the 46 patients, 22(47.8%) had AIDP, seven had AMAN(15.2%), 12 were unclassified(26.0%), and five had normal nerve conduction studies. The AIDP and AMAN groups were not significantly different in age, gender, and clinical characteristics. Five patients(22.7%) in the AIDP group and one patient(14.3%) in the AMAN group had respiratory failure, which did not differ significantly according to their group. However, the AMAN group needed a significantly longer period of time on average to walk independently than the AIDP group(99.2+/-97.0 days vs. 39.1+/-29.7 days, P=0.022). CONCLUSION: Our electrophysiological data show that 15.2% of the pediatric patients with GBS had the AMAN-type disease, and these children underwent longer periods of recovery than children in the AIDP group.


Subject(s)
Child , Humans , Amantadine , Axons , Guillain-Barre Syndrome , Lower Extremity , Neural Conduction , Polyneuropathies , Prognosis , Respiratory Insufficiency , Retrospective Studies , Upper Extremity
4.
Journal of the Korean Child Neurology Society ; : 100-107, 2010.
Article in Korean | WPRIM | ID: wpr-208701

ABSTRACT

PURPOSE: The aim of this study is to analyze the frequency and characteristics of neurologic manifestations in patients with neuroblastoma, retrospectively. METHODS: Eighty children with neuroblastoma who were diagnosed and treated in the Department of Pediatrics, Asan Medical Center between January 1995 and June 2009 were included. RESULTS: Neurologic manifestations were present in 21(26%) of the 80 children. Twelve children presented neurologic manifestations at diagnosis(lower limb paresis and bladder dysfunction in 7 children; diplopia, nystagmus and ptosis in 4 children; opsoclonus and truncal ataxia in one child). And 9 children presented neurologic manifestations during treatment(seizure in 5 children; hemiparesis in 2 children; Horner's syndrome in one child; right upper limb paresis in one child). Ten of 12 children with neurologic manifestations at diagnosis recovered and 4 of 9 children with neurologic manifestations during treatment recovered, eventually. All of the patients with neurologic manifestations at diagnosis were consistent with advanced neuroblastoma, either stage III or IV. Five of the 12 children with neurologic manifestations at diagnosis expired and 6 of the 9 children with neurologic manifestations during treatment expired. CONCLUSION: Neurologic manifestations at diagnosis suggest the high likelihood of advanced stage neuroblastoma. Neurologic manifestations during treatment may indicate poor prognosis.


Subject(s)
Child , Humans , Ataxia , Diplopia , Extremities , Horner Syndrome , Neuroblastoma , Neurologic Manifestations , Ocular Motility Disorders , Paresis , Pediatrics , Prognosis , Retrospective Studies , Upper Extremity , Urinary Bladder
5.
Journal of the Korean Child Neurology Society ; : 123-128, 2010.
Article in Korean | WPRIM | ID: wpr-208697

ABSTRACT

Long QT syndrome(LQTS) is characterized by prolongation of the QT interval, frequent episodes of syncope, and ventricular tachycardia leading to sudden cardiac death in adolescents and young adults. Early diagnosis and prompt treatment to reduce the risk of life-threatening cardiac events is crucial, however sudden onset convulsive syncope may be misdiagnosed as epilepsy and lead to antiepileptic drug therapy for many years. We experienced a case of six-year-old boy who were having seizure triggered by exercise and being treated with antiepileptic drugs. He had normal EEG and brain MRI but his ECG revealed prolonged QT interval(QTc=477 ms) and treadmill test induced polymorphic ventricular tachycardia. After applying beta-blocker, he had no more seizure attacks. We report a case of long QT syndrome misdiagnosed as epilepsy with a brief review of related literatures.


Subject(s)
Adolescent , Humans , Young Adult , Anticonvulsants , Brain , Death, Sudden, Cardiac , Early Diagnosis , Electrocardiography , Electroencephalography , Epilepsy , Exercise Test , Long QT Syndrome , Seizures , Syncope , Tachycardia, Ventricular
6.
Journal of the Korean Child Neurology Society ; : 153-157, 2010.
Article in English | WPRIM | ID: wpr-208692

ABSTRACT

A 14-year-old girl presented with recurrent, progressive lower leg weakness and decrease in sensation. When the symptoms first appeared, she was misdiagnosed as transverse myelitis and was treated with methylprednisolone. Eleven months later, when she had the same symptoms, spine magnetic resonance images showed the characteristic findings of spinal cord cavernoma and she underwent surgical intervention. Spinal cord cavernomas are rare lesions. Because of their highly bleeding tendency, acute neurological deterioration occurs secondary to hemorrhage within the spinal cord. In order to prevent intramedullary hemorrhage and to halt the progressive neurological decline, surgical resection is recommended. We experienced a case of spinal cord cavernoma presenting with recurrent transverse myelitis clinically.


Subject(s)
Adolescent , Humans , Hemorrhage , Leg , Magnetic Resonance Spectroscopy , Methylprednisolone , Myelitis, Transverse , Sensation , Spinal Cord , Spine
7.
Journal of the Korean Child Neurology Society ; : 326-331, 2010.
Article in Korean | WPRIM | ID: wpr-204568

ABSTRACT

Primary intraspinal peripheral primitive neuroectodermal tumors (pPNET) are extremely rare. We report a 10-month-old girl presented with rapidly progressive paraparesis and raised cerebrospinal fluid protein. A magnetic resonance image demonstrated an intramedullary mass from C3 to T3 level and intradural extramedullary nodules in the lumbosacral area. Surgery was performed with partial tumor removal and histologic examination revealed a small round cell tumor and immunohistochemical characteristics of pPNET. She died due to tumor progression at four months after initial diagnosis. This case has been reported to raise awareness among clinicians to include the possibility of intraspinal tumors in the differential diagnosis of progressive neurological deficits mimicking Guillain-Barre syndrome.


Subject(s)
Humans , Infant , Diagnosis, Differential , Guillain-Barre Syndrome , Magnetic Resonance Spectroscopy , Neuroectodermal Tumors , Neuroectodermal Tumors, Primitive , Neuroectodermal Tumors, Primitive, Peripheral , Paraparesis
8.
Journal of the Korean Child Neurology Society ; : 244-253, 2010.
Article in Korean | WPRIM | ID: wpr-106685

ABSTRACT

PURPOSE: This study was performed to investigate the change in the causative organisms of bacterial meningitis and the prevalence of bacterial meningitis caused by antibiotics resistant strains in a single Korean tertiary center. METHODS: We retrospectively analyzed medical records of patients who had been diagnosed with bacterial meningitis from March 1999 to March 2010 at the Asan Medical Center. The bacterial meningitis was defined as the correlated clinical symptoms and the isolation of organisms from the cerebrospinal fluid culture. RESULTS: During the 11-year study period, we found 81 cases of CSF-culture proven bacterial meningitis. Streptococcus agalactiae (group B streptococcus, GBS) were most common bacteria accounting for 23 (28.3%) cases, followed by Streptococcus pneumoniae with 22 (27.2%), and Haemophilus influenzae with 8 (9.9%). After introduction of the vaccination, only one case of H. influenzae meningitis was documented. Seventeen of 18 (94.4%) cases of GBS were sensitive to the penicillin, whereas 82.4% (14/17) of S. pneumoniae were resistant to penicillin. Among the 17 cases of S. pneumoniae, 11 cases (64.7%) were multi-drug resistant strains but all were susceptible to vancomycin. CONCLUSION: In spite of the introduction of the vaccination, S. pneumoniae was the most common cause of bacterial meningitis in children older than two months. For pneumococcal meningitis, careful selection of antibiotics and ongoing research about antibiotics susceptibility will be needed due to multi-drug resistance.


Subject(s)
Child , Humans , Accounting , Anti-Bacterial Agents , Bacteria , Drug Resistance , Drug Resistance, Multiple , Haemophilus influenzae , Influenza, Human , Medical Records , Meningitis , Meningitis, Bacterial , Meningitis, Pneumococcal , Penicillins , Pneumonia , Prevalence , Retrospective Studies , Streptococcus , Streptococcus agalactiae , Streptococcus pneumoniae , Vaccination
9.
Journal of the Korean Child Neurology Society ; : 40-48, 2010.
Article in Korean | WPRIM | ID: wpr-67405

ABSTRACT

PURPOSE: We assessed the usefulness of the Korean Infant and Child Developmental Screening Test(KICDT) by applying the test to children with epilepsy, identifying developmental delay and analyzing the results of the test based on the various factors that influence development. METHODS: The KICDT was performed on two hundred and eighty-seven children who were diagnosed with epilepsy at Asan Medical Center in Seoul, Korea, from March, 2005 to December, 2009. Utilizing chart review, we compared the causes of epilepsy, the specific diagnosis, the types of treatment, and the developmental quotient as a result of the treatments. The data and results were analyzed using SPSS. RESULTS: Children with epilepsy had significantly lower KICDT scores in all areas which differed according to seizure etiology, specific diagnosis and types of treatment(P<0.01). Also, children with poor seizure control had lower KICDT scores(P<0.01) indicating a good correlation between the KICDT scores and the results of treatments. CONCLUSION: The KICDT was useful in assessing the developmental status of children diagnosed with epilepsy.


Subject(s)
Child , Humans , Infant , Child Development , Epilepsy , Korea , Mass Screening , Seizures
10.
Journal of the Korean Child Neurology Society ; : 174-184, 2009.
Article in Korean | WPRIM | ID: wpr-121629

ABSTRACT

PURPOSE: The aim of this study is to analyze the patterns of presentation and progress of tuberous sclerosis complex (TSC) and the prevelance of items in diagrnostic criteria of TSC in the pediatric population group. METHODS: We reviewed 74 patients diagnosed with TSC by clinical diagnostic criteria, who visited Asan Medical Center from April, 1991 to August, 2008. RESULTS: Forty-four males and 30 females were enrolled with 2.3 years(0 days-15.4 years) of mean age at the diagnosis. Mean follow-up period was 3.2(0-12.6) years. Remarkable initial symptoms or signs at the first hospital visit were seizure(n=48, 64.9%), cardiac rhabdomyoma(n=15, 20.2%) and skin lesions(n=7, 9.5%). Seven of 74 patients(9.5%) had familial history of TSC. Seventy-one patients(95.9%) showed one or more brain lesions on the neuroimaging studies, including cortical tubers(n=69, 93.2%), subependymal nodules(n=71, 95.9%), subependymal giant cell astrocytomas(SEGA, n=5, 6.8%). Retinal astrocytic hamartomas were confirmed in 14 patients and suspicious in 4 patients. Skin lesions were detected in 58 patients(78%). Sixty-one patients(82%) had experienced one or more seizures and 58 were confirmed as epilepsy. Twenty-eight patients(38%) had experienced infantile spasm. Thirty-two of 52 patients evaluated(61.5%) had mental retardation. Gene studies were done in 13 patients and revealed two TSC1 gene mutations and seven TSC2 gene mutations. CONCLUSION: Seizure attacks and skin lesions were two most common causes to visit hospital in pediatric TSC patients. Considering the high incidence of epilepsy and its correlation with poor neurodevelopemental outcome, early diagnosis and adequate treatment will lead to the better quality of life.


Subject(s)
Female , Humans , Infant , Infant, Newborn , Male , Brain , Early Diagnosis , Epilepsy , Follow-Up Studies , Giant Cells , Hamartoma , Incidence , Intellectual Disability , Neuroimaging , Population Groups , Quality of Life , Retinaldehyde , Seizures , Skin , Spasms, Infantile , Tuberous Sclerosis
11.
Journal of Korean Epilepsy Society ; : 58-64, 2009.
Article in Korean | WPRIM | ID: wpr-179912

ABSTRACT

PURPOSE: The aim of this study is to investigate the incidence, clinical features and outcome in pediatric tuberous sclerosis complex(TSC) patients with epilepsy. METHODS: Fifty seven of 74 patients (77.0%) were included in the study, who were diagnosed with epilepsy associated with TSC from 1991 to 2008. Clinical data were obtained from medical records retrospectively. RESULTS: Of the 57 patients, initial seizure types were infantile spasms (n=25, 43.8%), complex partial seizure (n=24, 42.1%), generalized tonic seizure (n=5, 8.7%), simple partial seizure (n=2, 3.4%), and atonic seizure (n=1, 1.7%), respectively. Seventeen patients (29.8%) had changes of their seizure types during the clinical course. Excluding the five patients with insufficient data, 52 patients were treated with antiepileptic drugs and four of them underwent epilepsy surgery. Twenty-six of 52 patients (50.0%) with medical treatment and two patients (50.0%) with epilepsy surgery became seizure free. Among the patients with infantile spasms, vigabatrin induced seizure freedom in 13 of 14 patients (92.8%) within four weeks, and five of them maintained seizure remission with vigabatrin monotherapy. CONCLUSIONS: Half of epileptic patients showed good responses to medical treatment, especially vigabatrin for infantile spasms. Epilepsy surgery can be treatment option for selected patients.


Subject(s)
Child , Humans , Infant , Infant, Newborn , Anticonvulsants , Epilepsy , Freedom , Incidence , Medical Records , Retrospective Studies , Seizures , Spasms, Infantile , Tuberous Sclerosis , Vigabatrin
12.
Journal of Korean Epilepsy Society ; : 75-78, 2009.
Article in Korean | WPRIM | ID: wpr-206986

ABSTRACT

Respiratory syncytial virus (RSV) is an extremely common cause of childhood respiratory infection resulting in significant morbidity and mortality especially in young infants and premature babies. There have been a few reports about seizures or encephalopathy in children with RSV infection. We describe here refractory status epilepticus in two preterm babies with severe respiratory illness by RSV infection. The seizures were refractory to phenobarbital and diphenylhydantoin, but ceased by continuous midazolam infusion. After several days with clinical improvement of respiratory illness, their seizures were stable on phenobarbital maintenance only. Although rare, status epilepticus can be a form of neurologic manifestation of severe RSV infection in preterm baby. We must be aware of their neurological manifestations; continuous EEG monitoring is helpful for the diagnosis of the status epilepticus in infants.


Subject(s)
Child , Humans , Infant , Infant, Newborn , Electroencephalography , Infant, Premature , Midazolam , Neurologic Manifestations , Phenobarbital , Phenytoin , Respiratory Syncytial Viruses , Seizures , Status Epilepticus
13.
Journal of the Korean Child Neurology Society ; : 40-49, 2009.
Article in Korean | WPRIM | ID: wpr-223831

ABSTRACT

PURPOSE: This retrospective study was designed to know the relation between clinical features, genetics, and immunostaining findings among children with Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) and the validity of the diagnostic tools for muscular dystrophy. METHODS: The medical records and computerized databases of 93 patients diagnosed with DMD/BMD from June 1989 to December 2008 were reviewed retrospectively. Demographic characteristics including clinical features, serum creatinine kinase(CK) level, electromyogram(EMG) and nerve conduction velocity(NCV), muscle biopsy, immunochemical staining for dystrophin, and the deletion of dystrophin gene were analyzed. We calculate the concordance rate between type of frame (in or out of frame) and phenotype. RESULTS: 58(62%) children were diagnosed with DMD, 13(14%) BMD, 19(20%) unclassified dystrophy, and 3(3%) DMD/BMD carriers. The mean age of symptom onset was 5.0+/-3.5 years(range, 1-17). 46(49%) children presented gait disturbance and 35(37%) elevation of liver enzymes. The mean value of serum CK enzyme was 14,758+/-11,792 IU/L (range, 633-61,349). There was no dystrophin in the immunochemical stain among 48 DMD children and at least partial or incomplete dystrophin among 10 BMD children. 28/54(51%) children had dystrophin gene deletion in multiplex PCR and 13/14(92%) in Multiplex Ligation-dependent Probe Amplification(MLPA). The loss of heterozygosity was shown in 2 children by MLPA. The overall concordance rate between type of frame(in or out of frame) and phenotype was 95% in this study. CONCLUSION: Despite of small population, this finding indicates that the determination of type of frame (in or out of frame) by MLPA may be helpful in differential diagnosis of DMD/BMD. In addition, we surmise that the detection of carrier by MLPA is helpful in genetic counseling.


Subject(s)
Child , Humans , Biopsy , Creatinine , Diagnosis, Differential , Dystrophin , Gait , Gene Deletion , Liver , Loss of Heterozygosity , Medical Records , Multiplex Polymerase Chain Reaction , Muscles , Muscular Dystrophies , Muscular Dystrophy, Duchenne , Neural Conduction , Phenotype , Retrospective Studies
14.
Journal of the Korean Child Neurology Society ; : 71-77, 2008.
Article in Korean | WPRIM | ID: wpr-164768

ABSTRACT

PURPOSE: The aim of this study was to evaluate the data of 11 patients who had excessive drooling attributable to various diseases such as hypoxic ischemic encephalopathy, spinal muscular atrophy, and esophageal stricture treated with the injection of botulinum toxin A. METHODS: Eleven children with excessive drooling were enrolled in a retrospective clinical evaluation. Eighty to a hundred units of botulinum toxin A were injected into the patients' parotids, submandibular glands under sonographic guide. Subjective measures including Teacher Drooling Scale(TDS) by the patients' parents or caregivers were used to determine the effect of botulinum toxin A on drooling and to document the severity and frequency of children's drooling. RESULTS: The TDS and number of suctions per day demonstrated a significant reduction at 1 week, 1 month, and 3 months in most of the patients. We defined a 2 point decrease on the TDS as "success to therapy". Five of the eleven patients(45.5%) responded to botulinum toxin A injections. Of children who responded, the definite reduction of drooling was noticed at 4 weeks after the injections in three children, at 12 weeks in one, and at 1 week in the other. No adverse effects were observed during and after the injections in this study. CONCLUSION: Parotid and submandibular botulinum toxin A injection is an effective method for the reduction of excessive drooling, demonstrating a high response rate up to 12 weeks. The procedure is simple to perform, and safe when ultrasonographic guidance is used.


Subject(s)
Child , Humans , Botulinum Toxins , Caregivers , Cerebral Palsy , Esophageal Stenosis , Hypoxia-Ischemia, Brain , Muscular Atrophy, Spinal , Parents , Retrospective Studies , Sialorrhea , Sorbitol , Submandibular Gland , Suction , Tyramine
15.
Korean Journal of Endocrine Surgery ; : 260-265, 2008.
Article in Korean | WPRIM | ID: wpr-75420

ABSTRACT

PURPOSE: The clinical value of macrocalcifications as an indicator that predicts malignancy of thyroid nodules is controversial. The purpose of this study was to investigate additional ultrasonographic findings accompanying macrocalcifications for predicting malignancies in thyroid nodules. METHODS: Between January 2005 and April 2008, 315 patients who had thyroid nodules with FNAB resulting in suspicious malignancies underwent thyroidectomy at the Wallace Memorial Baptist Hospital. Three hundred fifteen nodules, which were confirmed to be papillary thyroid carcinoma, and 192 nodules, which were confirmed to be benign, were reviewed retrospectively. We analyzed the malignancy rates according to calcification patterns and US findings of the associated solid nodules. RESULTS: Among the 165 papillary thyroid carcinomas with microcalcifications, 161 accompanied solid nodules, and 4 were found with microcalcifications, but without solid nodules. Of the 161 papillary thyroid carcinomas with microcalcifications and solid nodules, 85.7% showed signs suggestive of malignancy. The remaining 14.3%, where only microcalcifications were present, showed indications of predicting malignancy. When solid nodules were found with macrocalcifications, there were indicators of predicting malignancy (100%). Also, for situations in which benign nodules were accompanied by solid nodules, 29% had signs of predicting malignancy. For situations in which benign nodules did not accompany solid nodules, 21% showed suspicious signs of predicting malignancy, but were all confirmed as benign. CONCLUSION: CFor nodules that accompany microcalcifications, there can be indicators that predict malignant conditions separate from other opinions that accompany microcalcifications. However, for macrocalcifications, it would be more effective to set up future treatment plans based on ultrasonographic features of solid nodules accompanying calcifications rather than the calcification itself.


Subject(s)
Humans , Protestantism , Retrospective Studies , Thyroid Gland , Thyroid Neoplasms , Thyroid Nodule , Thyroidectomy , Ultrasonography
16.
Journal of the Korean Society of Pediatric Nephrology ; : 92-99, 2007.
Article in Korean | WPRIM | ID: wpr-220793

ABSTRACT

The posterior reversible encephalopathy syndrome(PRES) is characterized clinically by a combination of acute or subacute confusion, lethargy, visual disturbance, and seizures. PRES has been described in various clinical settings, including severe hypertension, chemotherapy, eclampsia, and seizure. We report a case of a 7-year-old girl who had taken cyclosporine for steroid resistant nephrotic syndrome. Twenty one days after the cyclosporine therapy, she was admitted due to generalized tonic clonic seizure and headache. Her blood pressure was 170/90 mmHg. Magnetic resonance(MR) imaging showed necrotic/cystic lesions involving the bilateral parieto-occipital region. After discontinuation of cyclosporine, and control of blood pressure, she had no more seizure and headache. The follow-up MR examination which was performed 6 months later showed the decreased extent of the lesion.


Subject(s)
Child , Female , Humans , Pregnancy , Blood Pressure , Cyclosporine , Drug Therapy , Eclampsia , Follow-Up Studies , Headache , Hypertension , Lethargy , Nephrotic Syndrome , Posterior Leukoencephalopathy Syndrome , Seizures
17.
Journal of Genetic Medicine ; : 200-203, 2007.
Article in Korean | WPRIM | ID: wpr-169516

ABSTRACT

Niemann-Pick type C is an inborn error of metabolism that affects lipid degradation and storage, which is characterized by hepatosplenomegaly and progressive neurological symptoms. A 7-month-old girl with jaundice was presented cholestasis and hepatosplenomegaly. Laboratory study showed elevated acid phosphatase, angiotensin converting enzyme and mild decrease of cholesterol. Characteristic foamy cell and sea-blue histiocytes in bone marrow biopsy consistent with Niemann-Pick disease. Niemann-Pick type C was suspected by past medical history and findings of physical examination. Therefore, molecular analysis was performed and found mutations of NPC1 gene. We report the first Korean case of type C Niemann-Pick disease confirmed by mutation analysis.


Subject(s)
Female , Humans , Infant , Acid Phosphatase , Biopsy , Bone Marrow , Cholestasis , Cholesterol , Diagnosis , Histiocytes , Jaundice , Metabolism , Niemann-Pick Diseases , Peptidyl-Dipeptidase A , Physical Examination
18.
Journal of Breast Cancer ; : 223-229, 2007.
Article in Korean | WPRIM | ID: wpr-195152

ABSTRACT

PURPOSE: Isosulfan blue has been traditionally used as a tracer to map the lymphatic system during identification of the sentinel lymph node (SLN). However, this vital dye is difficult to obtain in Korea. Radioisotopes such as technetiumlabeled sulfur colloid or albumin colloid are also expensive and complex to use. The purpose of this study is to evaluate usefulness of a sentinel lymph node biopsy (SLNB) using methylene blue dye in breast cancer patients. METHODS: We evaluated the sentinel node mapping experience using methylene blue dye from July 2003 to January 2007. Fifty-eight patients with clinical T1-T2 breast cancer without palpable axillary lymph nodes were enrolled. All SLNs were submitted for intraoperative frozen section and hematoxyline and eosin (H & E) stain analysis. For the negative SLNs, serial sections of each SLN specimen were examined by permanent H & E staining and by immunohistochemical techniques (IHC) using cytokeratin. Regardless of the results of a frozen section for the SLNs, a backup level II or III axillary lymph node dissections (ALND) was performed. RESULTS: Of the 58 patients that underwent a SLNB using methylene blue dye, an SLN was identified in 56 patients (96.6%), and metastatic SLNs were detected in 14 cases. Axillary lymph node metastasis found in 18 out of 58 patients. Thus, the false negative rate for a SLNB was 22.2% (4/18). Two patients had a micrometastasis (pN1mi) and two patients had clusters of isolated tumor cells (pN0[i+]) that were identified in the SLNs by IHC with the additional use of cytoketatin. The sensitivity, specificity, and accuracy of the SLNBs were 77.8%, 100%, and 92.9%, respectively. The false negative rate improved with the accumulation of experience for performing a SLNB (12.5% vs 30.0%). The sensitivity, specificity, positive predictive value, and accuracy of preoperative ultrasonography (USG) for an axillary lymph node metastsis were 50.0%, 95.5%, 81.8% and 81.0% respectively. CONCLUSION: Based on our initial experience, methylene blue dye is safe, inexpensive, and a readily available tracer for the SLN mapping, and it could be an effective alternative to the use of isosulfan blue dye for accurately identifying SLNs in early breast caner patients. We expected that the findings of preoperative USG could serve as useful adjuncts to a SLNB.


Subject(s)
Humans , Biopsy , Breast Neoplasms , Breast , Colloids , Eosine Yellowish-(YS) , Frozen Sections , Hematoxylin , Keratins , Korea , Lymph Node Excision , Lymph Nodes , Lymphatic System , Methylene Blue , Neoplasm Metastasis , Neoplasm Micrometastasis , Radioisotopes , Sensitivity and Specificity , Sentinel Lymph Node Biopsy , Sulfur , Ultrasonography
19.
Korean Journal of Endocrine Surgery ; : 68-76, 2006.
Article in Korean | WPRIM | ID: wpr-217370

ABSTRACT

PURPOSE: Usually papillary microcarcinoma (PMC) grows very slowly with a good prognosis, although it frequently metastasizes to regional lymph nodes and shows multiple tumor formation in the thyroid. Therefore, how to treat papillary microcarcinoma has been controversial. Recently several studies reported that some ultrasonographic features may potentially reflect the biological aggressiveness of a lesion. We investigated which ultrasonographic findings can reflect aggressive characteristics and whether US can helpful in selecting the appropriate surgical treatment of PMC. METHODS: We retrospectively reviewed the preoperative ultrasonographic findings and pathologic risk factors of 68 patients who had undergone surgical treatment for PMC at the Wallace Memorial Baptist Hospital from January 2004 to December 2005. RESULTS: The incidences of multifocality, extrathyroidal extension, and lymph node metastasis of PMC were 42.6%, 48.5% and 20.6%, respectively. The Mean sizes of PMC were no significant differences according to age, multifocality, extrathyroidal extension, lymph node metastasis, stage and AMES risk group, and tumor size more than 5 mm was not linked to pathologic prognostic factors. Cases demonstrating multiple nodules in the unilateral or bilateral lobes, as well as those with fine strong calcifications in the tumor on US, were directly linked to multifocality on pathologic finding. US is insensitive technique for detecting lymph node metastasis and it's sensitivity was only 14.3%, but it's positive predictive value and specificity were high (100%). CONCLUSION: The date suggested that complete surgery with appropriate nodal dissection should be performed in patients with PMC which their US demonstrating multiple nodules in the unilateral or bilateral lobes, fine strong calcifications echoes in tumor and US-detected node metastasis.


Subject(s)
Humans , Incidence , Lymph Nodes , Neoplasm Metastasis , Prognosis , Protestantism , Retrospective Studies , Risk Factors , Sensitivity and Specificity , Thyroid Gland , Ultrasonography
20.
Journal of the Korean Surgical Society ; : 381-387, 2005.
Article in Korean | WPRIM | ID: wpr-42806

ABSTRACT

PURPOSE: High resolution ultrasonography has made it possible to detect many non-palpable small nodules in thyroid gland. We investigated the prevalence and clinical features of non-palpable thyroid nodule and carcinoma discovered incidentally at screening ultrasonography in healthy women. METHODS: A retrospective review was undertaken on the previous healthy asymptomatic 1, 714 women where selected to undergo screening ultrasonography for the detection of the presence of non-palpable thyroid nodules from January 2004 to December 2004. The aims of study were to define the prevalence of thyroid nodule and carcinoma in healthy asymptomatic women and to access the extent of disease in patients with malignant nodule by surgery. RESULTS: Of the 1, 714 subject, thyroid nodule were detected in 822 (48.0%) women with their prevalence increasing with the increasing age of patients. The malignant detection rate based on the USG-guided fine-needle aspiration (USGFNA) results, including both suspicious and malignant groups, was 2.8% (48/1, 714) of all subjects. 38 of 50 patients with malignant, suspicious or indeterminate cytology underwent surgery and all of them were confirmed to have papillary carcinoma on histological results. In 38 patients with papillary thyroid carcinoma, the average size of tumors was 0.87+/-0.33 cm, a range of 0.3 to 1.5 cm, multifocal tumors were found in 50% (19/38), bilaterality was found in 44.7% (17/38), extrathyroidal extension was observed in 50.0% (19/38), and regional lymph node metastasis was found in 29.4% (5/17). CONCLUSION: High resolution ultrasonography detected a high percentage (48%) of nonpalpable thyroid nodules. Characteristics of thyroid nodules on ultrasonography can be used to decision of optimal management strategies. Total thyroidectomy with lymph node dissection may be suitable in patients with non-palpable papillary thyroid carcinoma due to its high incidence of extrathyroidal extension, bilaterality and regional lymph node metastasis.


Subject(s)
Female , Humans , Biopsy, Fine-Needle , Carcinoma, Papillary , Incidence , Lymph Node Excision , Lymph Nodes , Mass Screening , Neoplasm Metastasis , Prevalence , Retrospective Studies , Thyroid Gland , Thyroid Neoplasms , Thyroid Nodule , Thyroidectomy , Ultrasonography
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