• Clinical and Experimental Pediatrics
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• v.45 no.6
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• pp.754-763
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• 2002

Purpose : The incidence of type 2 diabetes in children and adolescents has been reported to increase recently. The aim of this study is to investigate the clinical features of type 2 diabetes developing during childhood and adolescent period. Methods : The medical records of 33 patients with type 2 diabetes were reviewed. We analysed clinical manifestations, demographic data, and modes and responses of treatment. Results : Age at diagnosis was $13.4{\pm}1.8$ years. Seventy percent of patients revealed pubertal signs at diagnosis. Half of the patients had BMI more than $25kg/m^2$. Seventy-three percent of patients had family history of type 2 diabetes. Acanthosis nigricans were found in 18% of patients. Nineteen(57.6%) patients were diagnosed incidentally by random urine or blood glucose test without any typical diabetic symptom or sign. The modes of therapy to control hyperglycemia were insulin alone(75.8%), oral hypoglycemic agents alone(9.1%), insulin and oral hypoglycemia agents(9.1%), and only diet with exercise(6%). At the time of investigation, 45.5% of patients were not using insulin. The typical diabetic symptoms at diagnosis were more prevalent in patients who required insulin for more than two years than patients who did not(P<0.05). Conclusion : The development of type 2 diabetes in children and adolescents is possibly related to puberty, obesity, family history, and defects in insulin secretion rather than insulin resistance. Many children and adolescents with type 2 diabetes required insulin initially and some of them could discontinue. More than half of the patients were diagnosed as diabetes without any typical symptom or sign, which might be one of the predictive factors of the prolonged insulin requirement.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.388-393
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• 2006

Purpose : We compared the pain reducing effect of orally administered glucose solution with EMLA cream and pacifiers during venipuncture in newborn infants. Methods : Fifty newborn infants(30 prematures) were enrolled in this study. We performed these four pain-reducing methods to all infants in serial order. Group A(control) did not receive any treatment; to group B, EMLA cream was applied on the skin for 1 hour; group C(or D) received 10 percent(or 30 percent) glucose solution orally; group E used pacifiers. Symptoms and signs associated with pain at venipuncture were measured with the Premature Infants Pain Profile(PIPP) scale. Results : There was no significant difference in the PIPP scores between preterm and fullterm infants. The mean PIPP scores of groups were A : $12.5{\pm}2.5$, B : $10.1{\pm}2.6$, C : $9.4{\pm}2.0$, D : $6.5{\pm}2.1$ and E : $8.7{\pm}2.3$; the mean scores of groups B, C, D and E were significantly lower than that of group A(all, P<0.001 except B(P<0.05)), and the mean score of D was significantly lower than those of B, C and E(P<0.001, P<0.005, P<0.05, respectively). The percentages of patients with PIPP scores above 6, which means pain, were A : 100 percent, B : 82 percent, C : 56 percent, D : 40 percent and E : 70 percent. The percentages of patients with PIPP scores above 12, which means severe pain, were A : 72 percent, B : 30 percent, C : 22 percent, D : 0 percent and E : 14 percent; that of group D was clearly lowest. Conclusion : These results support the use of oral glucose solution, EMLA, and pacifiers for pain reduction as effective intervention at venipuncture in newborn infants. The most effective method was a 30 percent oral glucose solution.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.213-221
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• 2005

Purpose: Hemophagocytic syndrome (HPS) is characterized by persistent high fever, hepatosplenomegaly, cytopenias, hypertriglyceridemia, and/or hypofibrinogenemia. Hepatic manifestations including overt hepatic failure and fulminant hepatitis are common in HPS. Liver transplantation (LT) should be considered in a case of fulminant hepatitis by other than HPS, but LT is contraindicated and complete cure is possible by chemotherapy in HPS. Therefore, we conducted this study to define the characteristics of HPS presenting as severe acute hepatitis. Methods: Among the total of 23 patients diagnosed as HPS by bone marrow examination between 1994 and 2005 in Asan Medical Center, 11 cases presented as severe acute hepatitis were enrolled in this study. We analyzed the clinical features, laboratory findings and outcome retrospectively. Results: Seven (64%) of the 11 children with HPS and hepatitis were referred to pediatric gastroenterologist at first. The mean age of onset was 50 months. There was no case with family history of primary HPS. Epstein-Barr virus was positive in 4, and herpes Simplex virus was positive simultaneously in 1 case. As the presenting symptoms and signs, fever was present in 10, hepatosplenomagaly was noted in all and jaundice in 10. Anemia was observed in 10, thrombocytopenia in 10, leukopenia in 8, hypertriglyceridemia in 9, hypofibrinogenemia in 8 and hyperferritinemia in 7 cases, respectively. Nine children received chemotherapy including etopside. The overall mortality rate was 72% (8/11). Conclusion: HPS, which needs chemotherapy, should be considered as a cause of severe acute hepatitis especially when accompanied with prolonged high fever and cytopenias.

• Investigative Magnetic Resonance Imaging
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• v.17 no.1
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• pp.1-7
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• 2013

Purpose : The purpose of this study is to correlate the imaging findings and the clinical findings in patients with transient splenial lesions (TSL). Materials and Methods: Total of 7 patients (M: F = 4: 3; age range 11 - 38 years, mean age 25.5 years) were studied between November 2006 and April 2011. The MRI findings and clinical findings in all patients were retrospectively reviewed. The location, MR signal intensity, restricted diffusion, enhancement pattern and reversibility from the follow up images were reviewed. Clinical features were reviewed with respect to the presented symptoms, signs, treatment and outcome. Results: The lesions were located in the splenium of corpus callosum in all patients. All lesions showed high signal intensity on diffusion weighted imaging (DWI), and six patients showed restricted diffusion on the apparent diffusion coefficient (ADC) map. ADC map was not available in one patient. All lesions (n = 7) showed high signal intensity on the T2 weighted image (T2WI). Five of the patients (71.4%) with follow up images (range 7 - 34 days) showed complete resolution of focal high signal intensity on DWI, with recovery of ADC values as well as T2WI. After contrast media administration, none of the lesions showed any enhancements. All lesions with various etiologies including TB medication were developed in younger age patients and showed reversibility after the acceptable period of minimum 7 days with conservative treatment. Conclusion: All TSL showed nonspecific imaging findings, including restricted diffusion on DWI and ADC map on the initial images. However, reversibility of the lesions and the young age preference can be a characteristic finding of TSL with acceptable period of minimum 7 days. In addition, to keep it in mind that various etiologies including TB medication may cause TSL, is important for radiologists as well as clinicians.

• Tuberculosis and Respiratory Diseases
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• v.46 no.3
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• pp.363-371
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• 1999

Background: Because of the widespread use and availability of agricultural insecticides, acute organophosphate poisoning as a suicide or an accident is becoming the most common type of poisoning and serious problem in Korea. The mortality of organophosphate poisoning varied from 10 to 86 percent. The cause of death was thought to be a combination of excessive bronchial secretion, bronchospasm, respiratory muscle paralysis and depression of respiratory center, summarily respiratory failure. We evaluated the respiratory complications in patients with acute organophosphate intoxication to determine the predisposing, factors to respiratory failure and to reduce the incidence of respiratory failure or mortality. Method: We conducted a retrospective study of 111 patients with the discharge diagnosis of organophosphate poisoning who were hospitalized at Yenugnam University Hospital during the 5 years. The diagnosis of organophosphate poisoning has based on the followings (1) a history of exposure to an organophosphate compounds. (2) the characteristic clinical signs and symptoms. (3) decrease in the cholinesterase activity in the serum. Results: Respiratory failure developed in 31(28%) of 111 patients with acute organophosphate poisoning. All cases of respiratory failure developed within 96 hours after poisoning and within 24 hours in 23 patients. The 80 patients who did not develop respiratory failure survived. In 31 patients with respiratory failure, 15(44%) patients were dead. The patients with respiratory failure had more severe poisoning, that is, the lower level of serum cholinesterase activity on arrival, the higher mean dosage of atropine administered within first 24 hours. In 16 patients with pneumonia, 14 patients developed respiratory failure. In 5 patients with cardiovascular collapse, 2 patients developed respiratory failure. There was no correlation to between age, sex, the use of pralidoxime and respiratory failure. The serum cholinesterase level in survivors at time of respiratory failure and weaning was $66.05{\pm}85.48U/L$, $441{\pm}167.49U/L$, respectively. Conclusion: All the respiratory failure complications of acute organophosphate poisoning occurred during the first 96 hours after exposure. The severity of poisoning and pneumonia were the predisposing factors to respiratory failure. Aggressive treatment and prevention of the above factors will reduce the incidence of respiratory failure.

• Tuberculosis and Respiratory Diseases
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• v.42 no.5
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• pp.752-759
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• 1995

Background: Bronchial asthma is characterized by noctunal dyspnea, cough and wheezing because of airway hyperresponsiveness to nonspecific stimuli. These symptoms and signs are also observed in patients with congestive heart failure. Therefore, this is so called "cardiac asthma". There are lots of experimental and clinical datas to suggest that airway dysfunctions occur in acute and chronic congestive heart failure. However, it is still controversial whether bronchial hyperresponsiveness is present in patients with congestive heart failure. To assess whether bronchial hyperresponsiveness is present in patients with congestive heart failure and to demonstrate the relationship between bronchial responsiveness and vascular pressure, we performed methacholine provocation test in 11 patients with mitral valvular heart disease. Methods: All patients were in the New York Heart Association functional class II and treated continuously with digoxin and/or dichlozid and/or angiotensin converting enzyme inhibitor except one patient. All patients were undergone right and left side heart catheterization for hemodynamic measurements. A 20 percent fall of peak expiratory flow rate were considered as positive response to methacholine provocation test. Results: 1) Only one patient who has normal pulmonary artery pressure, pulmonary capillary wedge pressure, cardiac index was positive in methacholine provocation test. 2) Their mean pulmonary artery pressure, pulmonary capillary wedge pressure were $21.72{\pm}9.70mmHg$, $15.45{\pm}8.69mmHg$ respectively which were significantly higher. Conclusion: It is speculated that in stable congestive heart failure patients, bronchial responsiveness as assessed by methacholine provocation test may not be increased.

• Pediatric Infection and Vaccine
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• v.4 no.2
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• pp.210-217
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• 1997

Purpose: To prevent residual physical disability and chronic infection, prompt diagnosis and adequate treatment are important in the skeletal infections in children. Although radioisotope scanning is knwon as the method of choice for early diagnosis of bone infection, we conducted a study on twenty nine children who had skeletal infections to reevaluate the most appropriate way in diagnosis and management. Methods: A retrospective study was conducted on twenty nine children, who were admitted to the departments of Pediatrics and Orthopedic Surgery and who had acute osteomyelitis or septic arthritis, through review of medical records, radiologic & radioisotope study results. Their diagnoses were confirmed by bacteriologic cultures on the aspirated specimens from suspected bony lesions. Results: 1) Among twenty nine patients, there were 6 infants including 5 newborn infants, and 23 children were aged between 1 and 15 years. Male to female ratio was 1.4 to 1. 2) Point tenderness was noted in all cases, and the common physical signs were swelling, limitation of motion, fever and local heat in the order of frequency. 3) Fifty two percents of the patients were diagnosed within a week after onset of symptoms and all cases were within 15 days. 4) Leukocytosis was noted in only 58.6% of cases but erythrocyte sedimentation rate was increased in all cases except only one case. Staphylococcus aureus was revealed as the most common etiologic agent. 5) Radioisotope scans showed hot uptake in five of six cases(83.3%) who had no abnormal finding on plain skeletal radiolograms. Conclusions: Although radioisotope scan and MRI are helpful in early diagnosis before radiologic finding was detected on plain X-ray film, the antimicrobial therapy can be started after bacteriologic study of the aspirated specimens from the suspected skeletal lesions if skeletal infection is highly suspected clinically.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

• Clinical and Experimental Pediatrics
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• v.49 no.5
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• pp.533-538
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• 2006

Purpose : The headache, one of the symptoms of meningitis, is related to abrupt elevation of intracranial pressure(ICP) or stimulation of intracranial nociceptive structure. However, in cases of mild elevation of ICP or normal findings of cerebrospinal fluid(CSF) analysis, patients sometimes complain of headaches. Therefore, other pathways may contribute to the occurrence of headaches in aseptic meningitis or meningismus. We intend to investigate the role of substance P(SP) and calcitonin gene-related peptide(CGRP) in aseptic meningitis or meningismus. Methods : We measured leukocyte count, the concentration of protein and glucose in CSF and ICP of patients with meningeal irritation sign. We also measured SP and CGRP levels by using immunoassay. We analyzed the relationship between the presence of headache and the value of SP and CGRP. Results : The concentrations of CGRP($18.8{\pm}10.5ng/mL$) in CSF and ICP($14.8{\pm}4.5cmH_2O$) in aseptic meningitis group were significantly higher than in those($14.1{\pm}7.4ng/mL$ and $12.0{\pm}5.1cmH_2O$, respectively) of the meningismus group(P<0.05). There was no significant difference in the SP levels between the two groups. In the aseptic meningitis group, the concentrations of SP and CGRP were significantly higher in the normal ICP group than in the elevated ICP group(P<0.05). Conclusion : Headaches in children with aseptic meningitis or meningismus is considered to be related to the elevation of the CSF levels of SP and CGRP.