PURPOSE: To report the first case of Waardenburg syndrome type 4 in Korea. CASE SUMMARY: A 3-year-old boy visited our clinic to have his abnormal right eye iris color checked. The patient had a previous operation Hirschsprung's disease. In addition, his older sister and aunt showed similar ocular findings. A general physical examination, hearing test, and fundus examination were performed. On examination, hypochromic heterochromic iridum, albinism of the posterior pole upon ipsilateral fundus, and dystopia canthorum were found. There was no abnormal finding in the hearing test. CONCLUSIONS: The patient showed hypochromic heterochromic iridum, dystopia canthorum, and albinism of ipsilateral fundus. He also had a family history of Waardenburg syndrome and had surgery associated with congenital megacolon. The patient was diagnosed with Waardenburg syndrome type 4.
Albinism ; Child, Preschool ; Hearing Tests ; Hirschsprung Disease ; Humans ; Iris ; Korea ; Male ; Physical Examination ; Siblings ; Waardenburg Syndrome*

PURPOSE: Febrile seizure(FS) is the most common form of epileptic syndrome in pediatrics and known to have benign clinical course. In regard of febrile status epilepticus, however, there remains controversy about whether acute cerebral injury or neurological deficit can ensue and whether it can ultimately lead to intractable medial temporal lobe epilepsy secondary to mesial temporal sclerosis and hippocampal atrophy. We performed this study to determine the general clinical characteristics and prognoses in patients with febrile status epilepticus(FSE). METHODS: The FSE group was 20 children who developed status epilepticus after FS and admitted to the department of Pediatrics, Kang-Nam Sacred Heart hospital, Hallym university, from February, 1997 to February, 2001, while the FS group was 153 children who were admitted for the first episode of FS at the same period. We retrospectively analyzed the patients' charts for the clinical status at the time of diagnosis and in the follow-up period after discharge. In case of follow-up loss, we tried to contact the family by telephone. RESULTS: We found no statistically significant difference in etiology, patients' age, prior history of neurological abnormality, family history of epilepsy, seizure type, duration and degree of fever between the two groups. MRI scannings showed negative results of the all patients. Only one patient from each group showed abnormality in EEG, which was not statistically significant. In the analysis after the diagnosis, no death and one patient with mild weakness in the right arm was found among the FSE group. Among 153 patients of FS group, no death or postictal decline in cognitive and motor function was found. CONCLUSION: We found no significant differences in clinical characteristics and prognosis between the FSE and FS group, but small sample size and short follow up period necessitates further study with more patients and longer follow up in order to verify the relationship between the FS and intractable temporal lobe epilepsy
Arm ; Atrophy ; Child ; Diagnosis ; Electroencephalography ; Epilepsy ; Epilepsy, Temporal Lobe ; Fever ; Follow-Up Studies ; Heart ; Humans ; Magnetic Resonance Imaging ; Pediatrics ; Prognosis* ; Retrospective Studies ; Sample Size ; Sclerosis ; Seizures ; Seizures, Febrile ; Status Epilepticus* ; Telephone

Minicore myopathy, an uncommon condition, is one of congenital myopathies. It is characterized by multifocal areas of degeneration in muscle fibers. The minicores consist of numerous small areas of decreased oxidative enzyme activity. The axis of the lesion is perpendicular or parallel to the long axis of the muscle fiber. The phenotype has been described as predominantly proximal, static or only slowly progressive muscle weakness. We report a 4 year-old-girl with respiratory failure, thoracic scoliosis, hypotonia and facial weakness, who was diagnosed as minicore myopathy by muscle biopsy. The laboratory investigations, such as creatine phosphokinase and lactic dehydrogenase levels, and the nerve conduction velocity were normal. The muscle biopsy showed marked size variations of myofibers, marked endomyseal and perimyseal fibrosis, and moderate fatty changes in myofibers. The histochemical studies showed multiple focal losses of mitochondria. These findings are consistent with minicore type congenital myopathy.
Axis, Cervical Vertebra ; Biopsy ; Child ; Creatine Kinase ; Fibrosis ; Humans ; Mitochondria ; Muscle Hypotonia ; Muscle Weakness ; Muscular Diseases* ; Neural Conduction ; Oxidoreductases ; Phenotype ; Respiratory Insufficiency ; Scoliosis

A oral inotropic agent, denopamine(TA-064, (-)-alpha-(3,4-dimethoxyphenethyl aminomethyl)-4-hydroxybenzylalcohol), was shown to have strong positive inotropic effect in experimental animals. To determine effects of denopamine on the left ventricular9LV) function and clinical features in patients with severe chronic heart failure who were treated with conventional regimens, denopamine(5mg 3 times per day for 4 weeks) was administered orally to 28 patients with chronic heart failure(22 dilated cariomyopathy, 6 ischemic heart disease) and systolic time interval, 2-D and Doppler echocardiognaphy were performed to evaluate LV function. Denopamine had no effect on LV dimension, volume and fractional shortening, and produced modest increase of ejection fraction and cardiac index, and modest decrease of PEP/LVET and cardiothoracic ratio in the cheat X-ray(PA view). The stroke volume was significantly increased (32.8+/-10.0 to 36.4+/-11.1 ml, p<0.05). Systolic BP was decreased (131.3+/-32.7 to 123.2+/-20.8 mmHg, p<0.05) with little change in diastolic BP and heart rate. Subjective symptoms and NYHA functional class were improved (71.4%, 67.9%, respectively). No adverse effect and ECG abnormality were noted. In conclusion, the addition of denopamine to conventional therapy improved clinical symptoms and caused modest increase of LV contractile function in patients with severe chronic heart failure without significant untoward effects. Therefore, the addinion of denopamine to conventional therapy may be an effective and safe method for the treatment of chronic congestive heart failure.
Animals ; Electrocardiography ; Heart Failure* ; Heart Rate ; Heart* ; Humans ; Stroke Volume ; Systole ; Ventricular Function, Left*

Placement of an endoprosthesis for palliative decompression of biliary obstruction has been advocated as an effective alternative for interanl-external drainage catheters, of which the care and psychological impact of the external segment protruded through the skin has been a difficult problem. (continue...)
Catheters ; Decompression ; Drainage* ; Skin

Gastric bezoars are large masses or concretions, composed with plant fiber, hair and miscellaneous foreign bodies, found in the stomach and occur usually as sequele of gastric surgery. We experienced 2 cases of fat bezoars which developed after drinking of melted beef fst. They had postprandial epigastric fullness and pain, those were relieved on supine and left recumbent position. Upper gastrointestinal series showed a large movable mass in the stomach in hoth cases. On gastrofibercopic examination, a large egg sized white bezoar was cordirmed in both cases and a gastrie ulcer at antrum associated in one case. In attempt to removal of the bezoars, we tried to break them, but failed because of its character. The patients were treated with pancreatic lipase containg digestives, Pancreon-F and Azintal. From one day after this treatment, symptoms were completely relieved. Five days later, we confirmed disappearance of bezoars by gastrofiberscopy. and upper gastrointestinal barium
Barium ; Bezoars* ; Drinking ; Foreign Bodies ; Hair ; Humans ; Lipase* ; Ovum ; Plants ; Stomach ; Ulcer

Among various mehtods for postoperative pain management, epidural narcotics is one of the most prevalent techniques used by anesthesiologists. Although it is a highly effective analgesia, epidural morhpine has disadvantages such as delayed onset, nausea, vomiting, pruritus, urinary retension and even life-threatening respiratory depression. To search for a more effective analgesic mehtod with minimum side effects, we studied the effects of morphine, bupivacaine and a combination of each durg with different dosages in patients undergoing upper abdominal surgery. Hemodynamic changes, duration of analgesia, and side effects were compared. The results suggested that the combination of 2 mg of morphine and 0.125% of bupivacaine is the most effective method with minimum side effects for postoperative pain.
Analgesia ; Analgesia, Epidural ; Bupivacaine* ; Hemodynamics ; Humans ; Morphine* ; Narcotics ; Nausea ; Pain, Postoperative ; Pruritus ; Respiratory Insufficiency ; Vomiting

BACKGROUND: Cerebral vasoreactivity (CVR) is known as having insufficient hemodynamic circulation. However, available information for its clinical interpretation is scant. We attempted to find the relationship of CVR with parameters such as stenosis degree and collateral patterns. METHODS: This study was prospectively conducted in 37 patients with more than 50% angiographically proven unilateral carotid stenosis. The relative change of mean flow velocity before and after an acetazolamide challenge was calculated by transcranial Doppler sonography (TCD) and the results were compared with single photon emission computed tomography (SPECT) results. The degree of stenosis and collateral flow patterns were estimated and classified by conventional angiography. RESULTS: The CVR of middle cerebral artery (MCA) was significantly decreased in the ipsilateral side to the carotid stenosis (p<0.05). The CVR impairment was more severe when symptomatic stenosis was present (p=0.04). There was a significant correlation between the degree of carotid stenosis and the CVR (p<0.01). In the area of impaired CVR by SPECT, the estimated CVR was significantly lower (p<0.05), even to the negative value, implying that there is an actually steal phenomenon in that area. CONCLUSIONS: TCD is a useful tool for the assessment of CVR, which can give diverse clinical information based upon the degree of stenosis.
Acetazolamide ; Angiography ; Brain* ; Carotid Stenosis* ; Constriction, Pathologic ; Hemodynamics ; Humans ; Middle Cerebral Artery ; Prospective Studies ; Tomography, Emission-Computed, Single-Photon* ; Ultrasonography, Doppler, Transcranial

PURPOSE: The Korean Knee score (KKS) was designed to reflect the floor-sitting lifestyle that necessitates high knee flexion. The purpose of this study is to assess whether the KKS reflects the floor-sitting lifestyle more accurately than the previously developed Knee Society clinical rating system. In addition, the presence of ceiling effects was compared between the two rating systems. MATERIALS AND METHODS: Eighty-one consecutive patients (120 knees) who were assessed regularly after total knee arthroplasty (TKA) on an outpatient basis between January 2012 and December 2012 were enrolled. All patients were asked to complete a questionnaire to assess the Knee Society Knee score (KSKS), Knee Society Function score (KSFS), and KKS. RESULTS: At the final follow-up, the mean KSKS, KSFS, and KKS were 91.2, 86.0, and 70.1, respectively, and the scores were similar between the > or =125degrees maximum flexion group and <125degrees maximum flexion group. However, the 'floor life' subdomain score of the KKS was significantly higher in the >125degrees maximum flexion group (15.13 vs. 11.24, p=0.001). The number of cases with the highest possible score was 24 (20%) for the KSKS and 47 (39%) for the KSFS, whereas none of the cases obtained the highest possible KKS. According to the standard deviation method, more substantial ceiling effects were present in the KSKS (83 cases, 69.1%) and KSFS (67 cases, 55.8%) than in the KKS (23 cases, 19.2%). CONCLUSIONS: Although, the KKS was effective in reducing the ceiling effect, it demonstrated limited improvement in assessing the ability to perform high knee flexion after TKA. However, the 'floor life' subdomain of KSS appeared to be valid for evaluating high flexion of the knee.
Arthroplasty ; Follow-Up Studies ; Humans ; Knee ; Life Style ; Outpatients ; Surveys and Questionnaires

PURPOSE: The purpose of this study was to evaluate the perioperative myocardial damage in pediatric congenital heart disease with the cardiac specific protein of cardiac troponin I(cTpn-I). METHODS: All 25 pediatric patients who were diagnosed with tetralogy of Fallot or double outlet right ventricle were classified as group A(acyanotic, SaO2 >90%), group B(mildly cyanotic, SaO2 >80-90%) and group C(moderately cyanotic, SaO2 <80%). The control group D was consisted of 10 patients with ventricular septal defects who were operated in the same period. We measured preoperative hemoglobin, preoperative and postoperative(24 and 72 hour) arterial oxygen saturation, cTpn-I and creatine kinase(CK-MB). RESULTS: Total 25 patients were subdivided into 6 of group A, 12 of group B and 7 of group C. The concentrations of preoperative cTpn-I were 0.23+/-0.12 ng/mL in group A, 0.25+/-0.12 ng/mL in group B, 0.26+/-0.13 ng/mL in group C. And the concentrations of cTpn-I in postoperative 24 hour were 10.04+/-5.28 ng/mL in group A, 12.50+/-6.86 ng/mL in group B, 12.55+/-9.90 ng/mL in group C. Which revealed cTpn-I in group C was higher than that of the another less cyanotic groups. In addition, the concentration of cTpn-I of group C in postoperative 72 hour was higher than any other groups. The concentration of cTpn-I in postoperative 72 hour was statistically correlated with that in postoperative 24 hour and preoperative arterial oxygen saturation(P=0.001). CONCLUSION: Preoperative chronic cyanosis can influence on the postoperative concentration of cTpn-I in pediatric cardiac patients, which means impairment on the postoperative myocardial recovery.
Creatine ; Cyanosis* ; Double Outlet Right Ventricle ; Heart Defects, Congenital ; Heart Septal Defects, Ventricular ; Humans ; Myocardium ; Oxygen ; Tetralogy of Fallot ; Troponin I* ; Troponin*