• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.2
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• pp.134-137
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• 2017

Gastric hemangioma in the neonatal period is a very rare cause of upper gastrointestinal bleeding. We present a case of hemangioma limited to the gastric cavity in a 10-day-old infant. A huge, erythematous mass with bleeding was observed on the lesser curvature side of the upper part of the stomach. Surgical resection was ruled out because the location of the lesion was too close to the gastroesophageal junction. Medical treatment with intravenous $H_2$ blockers, octreotide, packed red blood cell infusions, local epinephrine injection at the lesion site, application of hemoclip, and gel-form embolization of the left gastric artery did not significantly alter the transfusion requirement. Hemostasis was achieved with endoscopic argon plasma coagulation (APC). After two sessions of APC, complete removal of the lesion was achieved. APC was a simple, safe and effective tool for hemostasis and the ablation of gastric hemangioma without significant complications.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.18-22
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• 2005

Pompe disease is a genetic disorder caused by a deficiency of acid ${\alpha}$-glucosidase (GAA). This enzyme defect results in lysosomal glycogen accumulation in multiple tissues and cell types, with cardiac, skeletal, and smooth muscle cells the most seriously affected. Infantile-onset Pompe disease is uniformly lethal. Affected infants present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, followed by death from cardiorespiratory failure or respiratory infection, usually by 1 year of age. Late-onset forms is characterized by a lack of severe cardiac involvement and a less severe short-term prognosis. Enzyme replacement therapy for Pompe disease is intended to address directly the underlying metabolic defect via intravenous infusions of recombinant human GAA to provide the missing enzyme. We experienced one case of Pompe disease in 3-years old boy that has improved his exercise ability and cardiac function after GAA enzyme replacement therapy.

• Journal of Korean Neurosurgical Society
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• v.42 no.4
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• pp.337-341
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• 2007

Objective : Repeated administration of mannitol in the setting of large hemispheric infarction is a controversial and poorly defined therapeutic intervention. This study was performed to examine the effects of multiple-dose mannitol on a brain edema after large hemispheric infarction. Methods : A middle cerebral artery was occluded with the rat suture model for 6 hours and reperfused in 22 rats. The rats were randomly assigned to either control (n=10) or the mannitol-treated group (n=12) in which intravenous mannitol infusions (0.8 g/kg) were performed six times every four hours. After staining a brain slice with 2,3,5-triphenyltetrazolium chloride, the weight of hemispheres, infarcted (IH) and contralateral (CH), and the IH/CH weight ratio were examined, and then hemispheric accumulation of mannitol was photometrically evaluated based on formation of NADH catalyzed by mannitol dehydrogenase. Results : Mannitol administration produced changes in body weight of $-7.6{\pm}1.1%$, increased plasma osmolality to $312{\pm}8\;mOsm/L$. It remarkably increased weight of IH ($0.77{\pm}0.06\;gm$ versus $0.68{\pm}0.03\;gm$ : p<0.01) and the IH/CH weight ratio ($1.23{\pm}0.07$ versus $1.12{\pm}0.05$ : p<0.01). The photometric absorption at 340 nm of the cerebral tissue in the mannitol-treated group was increased to $0.375{\pm}0.071$ and $0.239{\pm}0.051$ in the IH and CH, respectively from $0.167{\pm}0.082$ and $0.162{\pm}0.091$ in the IH and CH of the control group (p<0.01). Conclusion : Multiple-dose mannitol is likely to aggravate cerebral edema due to parenchymal accumulation of mannitol in the infarcted brain tissue.

• The Korean Journal of Pain
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• v.19 no.2
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• pp.223-227
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• 2006

Complex regional pain syndrome (CRPS) is clinically characterized by pain, abnormal regulation of blood flow and sweating, edema of skin and subcutaneous tissues, sensory and motor disturbances, and trophic changes of the skin. A 21-year-old man was suffering from pain and swelling in his right hand and forearm. His arm had been in splints for 3 weeks following an extension injury of the right fingers and wrist, with the pain having developed 2 weeks after the splinting. He was treated with various nerve blocks including continuous epidural infusion, thoracic sympathetic block and peripheral nerve blocks, and squeezing his edematous region under general anesthesia as well as intravenous lidocaine and ketamine infusions. However, all of the performed treatments had no effect on the patient's pain or hand swelling. As a next line therapy, spinal cord stimulation should be considered because of intractable severe pain and swelling to almost all other modalities of therapy. We therefore performed an early intervention of spinal cord stimulation for the patient with refractory CRPS type I 5 months after the onset of pain and have got an excellent result.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.72-77
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• 2016

Purpose: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat ($Zavesca^{(R)}$) was approved for the treatment of adults with GD type 1, for whom enzyme replacement therapy (ERT) is unsuitable or not a therapeutic option. In this study, we report the effect of miglustat ($Zavesca^{(R)}$) in three Korean GD patients. Materials and Methods: Clinical findings comprising age at diagnosis, presenting signs, laboratory findings at diagnosis, GBA activity and mutations, and clinical courses of the three patients were reviewed. Results: Miglustat was administered to three patients who reported allergic reactions during intravenous imiglucerase infusions. One patient withdrew after 15 months of miglustat administration owing to continuous elevation of disease biomarker levels (chitotriosidase, acid phosphatase, and angiotensin-converting enzyme). Poor adherence to medication was suspected but was denied by the patient. In the other two patients, platelet count and levels of hemoglobin and other biomarkers remained stable during miglustat administration. However, they suffered from severe diarrhea and weight loss, which led to miglustat discontinuation after 1 and 12 months of administration. Conclusion: Our study shows that although miglustat is suggested to GD patients as an alternative treatment to ERT, significant adverse reactions may lead to discontinuation of miglustat. In addition, it is difficult to monitor the drug adherence.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.5
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• pp.431-440
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• 2019

Purpose: No national survey has yet described the guidelines followed by Korean pediatricians to treat acute gastroenteritis (AGE). An online survey was performed to investigate the management of AGE followed by members of The Korean Society of Pediatric Gastroenterology, Hepatology, and Nutrition, and the results were compared between pediatric gastroenterologists (PG) and general pediatricians (GP). Methods: Questionnaires were sent to pediatricians between June 2 and 4, 2018 regarding the type of hospital, indications for admission, antiemetic and antidiarrheal drugs and antibiotics prescribed, and dietary changes advised. Results: Among the 400 pediatricians approached, 141 pediatricians (35.3%) responded to the survey. PG comprised 39% of the respondents and 72.7% worked at a tertiary hospital. Both PG and GP considered diarrhea or vomiting to be the primary symptom. The most common indication for hospitalization was severe dehydration (98.8%). Most pediatricians managed dehydration with intravenous fluid infusions (PG 98.2%, GP 92.9%). Antiemetics were prescribed by 87.3% of PG and 96.6% of GP. Probiotics to manage diarrhea were prescribed by 89.1% of PG and 100.0% of GP. Antibiotics were used in children with blood in diarrheal stool or high fever. Dietary changes were more commonly recommended by GP (59.3%) than by PG (27.3%) (p<0.05). Tests to identify etiological agents were performed primarily in hospitalized children. Conclusion: This survey assessing the management of pediatric AGE showed that the indications for admission and rehydration were similar between GP and PG. Drug prescriptions for diarrhea and dietary changes were slightly commonly recommended by GP than by PG.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.441-445
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• 2009

Purpose : Some patients develop side effects from theophylline even at low serum concentrations. We designed a prospective study to evaluate the side effects of theophylline. Methods : A Prospective, controlled trial study was conducted. The low-dose group received an intravenous continuous aminophylline dose of 5 mg/kg/day on the first day and subsequently 10 mg/kg/day on the following two days. The usual-dose group received 10 mg/kg/day for three days and the control group received normal saline for three days. Heart rate, respiratory rate, serum concentration of theophylline, and four adverse events (irritability, sleep disturbance, jitter, and vomiting) were checked at the time of admission and at 2, 12, 24, 48, and 72 h after the start of aminophylline infusions. Results : Nine patients out of 37 in the low-dose group and six of 21 in the usual-dose group dropped out because of uncontrolled irritability. The serum concentrations of theophylline in dropouts ($3.68{\pm}1.93$ ig/mL) and participants ($4.47{\pm}2.45$ ig/mL) were not significantly different. Irritability was a more frequent side effect in the usual-dose group at 12 h, but there was no difference between the low-dose and usual-dose groups in terms of vomiting, sleep disturbance, and jitter. Most of the severe adverse effects were observed in children below two years of age. Conclusion : Some patients dropped out regardless of the initiating aminophylline dose, especially patients under the age of two years.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1187-1192
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• 2005

Purpose : The purpose of this study is to determine the effectiveness of intravenous immunoglobuin (IVIG) administration in fullterm neonates having clinically suspected neonatal sepsis. Methods : Forty full-term neonates admitted to the neonatal intensive care unit with clinically suspected neonatal sepsis, who had at least two positive diagnostic criteria were enrolled. Twenty neonates were enrolled into the IVIG arm and 20 in the placebo arm. Neonates with a gestational age of less than 36 weeks and those with any major congenital malformation were excluded. The neonates were randomized to receive 1 g/kg of IVIG or equivalent amount of normal saline. The treatments including antibiotics and supportive care were administered. Results : The neonates in the therapy and placebo groups were comparable in terms of birth weight, gestational age, sex distribution, duration of antibiotics therapy and admission, elevation of serum IgG level, mortality rate, change of CBC, and serum level of acute phase reactants etc. Conclusion : Serum IgG values increased significantly 5 days after administration of IVIG in the IVIG-treated group and decreased significantly 5 days after administration of normal saline in the placebo group. However, there was no significant difference in the duration of antibiotics therapy and admission, or of mortality between the IVIG-treated and placebo groups. No adverse reactions to the IVIG infusions were noted during the study. Our preliminary observations suggest that the administration of 1 g/kg IVIG to neonates had some effect on augmentation of humural immune status in neonates with clinically suspected sepsis. But further study is needed to verify the benefit of IVIG infusion to neonatal sepsis.

• Clinical and Experimental Pediatrics
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• v.50 no.2
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• pp.213-217
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• 2007

Pompe disease is a genetic disorder caused by a deficiency of acid ${\alpha}$-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe symptoms and prognosis. Therapy for Pompe disease is intended to directly address the underlying metabolic defect via intravenous infusions of recombinant human GAA to replace the missing enzyme. We report a case of atypical infantile-onset Pompe disease that presented symptoms in infancy but had less severe clinical manifestations and improved after GAA enzyme replacement ($Myozyme^{(R)}$, Genzyme Co., MA, USA) therapy. It is very important that pediatricians become aware of signs and symptoms of Pompe disease, such as a nasal voice or a waddling gait at an early stage so that these patients can benefit from appropriate GAA replacement therapy as soon as possible.

• Childhood Kidney Diseases
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• v.5 no.2
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• pp.117-124
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• 2001

Purpose : Since Mendoza(1990)'s report that long term methylprednisolone pulse therapy by Mendoza protocol (MP therapy) is a good treatment option in focal segmental glomerulosclerosis(FSGS), there have been reports of the effects of this therapy in steroid-resistant nephrotic syndrome. However, no studies have been performed on the effects of MP therapy in steroid- dependent nephrotic syndrome and secondary nephrotic syndrome. In this study, we investigated the effects of long term MP therapy in primary and secondary nephrotic syndrome in which previous treatment options were not effective. Methods : We chose 10 children who were diagnosed with steroid-dependent minimal change nephrotic syndrome(SD-MCNS), who had shown frequent relapse during the immunocompromised or cytotoxic therapy Period, and 6 children with FSGS and 5 children with secondary nephrotic syndrome children, who had shown no response during the previous therapy period. We treated these patients according to Mendoza protocol involving infusions of high doses of methylprednisolone, often in combination with oral cyclophosphamide for 82 weeks. Results : In all the 10 children with SD-MCNS, complete remission was visible on average of $18{\pm}9$ days after MP therapy was started. However, all these children relapsed during or after MP therapy. In these children, the mean relapse rate prior to MP therapy was $2.1{\pm}1.0$ relpases/year, which was reduced to $1.4{\pm}0.9$ relapses/year during MP therapy(P>0.05) and rose to $2.7{\pm}1.0$ relapse/year after MP therapy. Of the 6 children with FSGS, 4 children($67\%$) showed complete remission, of whom 3 children($50\%$) remained in the remission status during the follow up period, $1.2{\pm}0.7$ years, after the end of MP therapy. 2 children($33\%$) showed no response. All of the 5 children with secondary nephrotic syndrome showed remission and remained in the remissiom status during the follow up period, $1.7{\pm}0.6$ years The only side effect of MP therapy was transient hypertension in 10 children of ail subjects during the intravenous infusion of methylprednisolone. Conclusion : We conclude that although long term MP therapy is not effective in the treatment of SD-MCNS, it is an effective therapy against intractable FSGS and secondary nephrotic syndrome. (J Korean Soc Pediatr Nephrol 2001 ; 5 : 117-24)