• Clinical and Experimental Pediatrics
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• v.53 no.6
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• pp.722-726
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• 2010

Chronic granulomatous disease (CGD) is an uncommon inherited disorder caused by mutations in any of the genes encoding subunits of the superoxide-generating phagocyte NADPH oxidase system, which is essential for killing catalase producing bacteria and fungi, such as $Aspergillus$ species, $Staphylococcus$ $aureus$, $Serratia$ $marcescens$, $Nocardia$ species and $Burkholderia$ $cepacia$. In case of a history of recurrent or persistent infections, immune deficiency should be investigated. Particularly, in the case of uncommon infections such as aspergillosis in early life, CGD should be considered. We describe here a case of CGD that presented with invasive pulmonary aspergillosis in a 2-month-old girl. We confirmed pulmonary aspergillosis noninvasively through a positive result from the culture of bronchial alveolar lavage fluid, positive serological test for $Aspergillus$ antigen and radiology results. She was successfully treated with Amphotericin B and recombinant IFN-${\gamma}$ initially. Six weeks later after discharge, she was readmitted for pneumonia. Since there were infiltrates on the right lower lung, which were considered as residual lesions, voriconazole therapy was initiated. She showed a favorable response to the treatment and follow-up CT showed regression of the pulmonary infiltrates.

• Clinical and Experimental Pediatrics
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• v.56 no.8
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• pp.351-354
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• 2013

Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such as infections. Here, we report the case of a 2-year old boy with IVA who presented with the chronic intermittent form. He was admitted to Asan Medical Center Children's Hospital with recurrent vomiting. Metabolic acidosis, hyperammonemia, elevated serum lactate and isovalerylcarnitine levels, and markedly increased urine isovalerylglycine concentration were noted. Sequence analysis of the IVD gene in the patient revealed the novel compound mutations-a missense mutation, c.986T>C (p.Met329Thr) and a frameshift mutation, c.1083del (p.Ile361fs$^*11$). Following stabilization during the acute phase, the patient has remained in a stable condition on a low-leucine diet.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.6
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• pp.2447-2451
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• 2014

Human papillomavirus (HPV) is the primary etiologic agent of cervical cancer. Consideration of safety and non human leukocyte antigen restriction, protein vaccine has become the most likely form of HPV therapeutic vaccine, although none have so far been reported as effective. Since tumor cells consistently express the two proteins E6 and E7, most therapeutic vaccines target one or both of them. In this study, we fabricated DC vaccines by transducing replication-defective recombinant adenoviruses expressing E6/E7 fusion gene of HPV-16, to investigate the lethal effects of specific cytotoxic T lymphocytes (CTL) against CaSki cells in vitro. Mouse immature dendritic cells (DC) were generated from bone marrow, and transfected with pAd-E6/E7 to prepare a DC vaccine and to induce specific CTL. The surface expression of CD40, CD68, MHC II and CD11c was assessed by flow cytometry (FCM), and the lethal effects of CTL against CaSki cells were determined by DAPI, FCM and CCK-8 methods. Immature mouse DC was successfully transfected by pAd-E6/E7 in vitro, and the transfecting efficiency was 40%-50%. A DC vaccine was successfully prepared and was used to induce specific CTL. Experimental results showed that the percentage of apoptosis and killing rate of CaSki cells were significantly increased by coculturing with the specific CTL (p <0.05). These results illustrated that a DC vaccine modified by HPV-16 E6/E7 gene can induce apoptosis of CaSki cells by inducing CTL, which may be used as a new strategy for biological treatment of cervical cancer.

• Clinical and Experimental Pediatrics
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• v.55 no.2
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• Childhood Kidney Diseases
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• v.22 no.2
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• pp.86-90
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• 2018

Non-infectious complications of peritoneal dialysis (PD) are relatively less common than infectious complications but are a potentially serious problem in patients on chronic PD. Here, we present a case of a non-infectious complication of PD in a 13-year- old boy on chronic PD who presented with symptoms such as hypertension, edema, dyspnea, and decreased ultrafiltration. Chest and abdominal radiography showed pleural effusion and migration of the PD catheter tip. Laparoscopic PD catheter reposition was performed because PD catheter malfunction was suspected. However, pleural effusion relapsed whenever the dialysate volume increased. To identify peritoneal leakage, computed tomography (CT) peritoneography was performed, and a defect of the peritoneum in the left lower abdomen with contrast leakage to the left rectus and abdominis muscles was observed. He was treated conservatively by transiently decreasing the volume of night intermittent PD and gradually increasing the volume. At the 2-year follow-up visit, the patient had not experienced similar symptoms. Patients on PD who present with refractory or recurrent pleural effusion that does not respond to therapy should be assessed for the presence of infection, catheter malfunction, and pleuroperitoneal communication. Thoracentesis and CT peritoneography are useful for evaluating pleural effusion, and timely examination is important for identifying the defect or fistula.

• Childhood Kidney Diseases
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• v.22 no.2
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• pp.91-96
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• 2018

Nephrotic syndrome in the first year of life, characterized by renal dysfunction and proteinuria, is associated with a heterogeneous group of disorders. These disorders are often related to genetic mutations, but the syndrome can also be caused by a variety of other diseases. We report an infant with nephrotic syndrome associated with a neuroblastoma. A 6-month-old girl was admitted with a 10% weight loss over 10 days and nephrotic-range proteinuria. She was ill-looking, and her blood pressure was higher than normal for her age. Her cystatin-C glomerular filtration rate was decreased, and levels of plasma renin, aldosterone, and catecholamines were elevated. Renal ultrasonography and abdominal computed tomography showed a retroperitoneal prevertebral mass encasing both renal arteries and the left renal vein. The mass was partially resected laparoscopically, and the pathologic diagnosis was neuroblastoma. Findings on a simultaneous renal biopsy were unremarkable. The patient was treated with chemotherapy and several anti-hypertensive drugs, including an alpha blocker. Two months later, the mass had decreased in size and the proteinuria and hypertension were gradually improving. In an infant with abnormal renin-angiotensin system activation, severe hypertension, and nephrotic-range proteinuria, neuroblastoma can be considered in the differential diagnosis.

• Advances in pediatric surgery
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• v.6 no.2
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• pp.89-94
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• 2000

Ventriculoperitoneal shunt(VP shunt) for hydrocephalus is thought to inhibit the closure of processus vaginalis and promote inguinal hernia by increasing intraabdominal pressure. To estimate the patency rate of processus vaginalis and the incidence and characteristics of the inguinal hernia, 262 cases of VP shunt in early childhood between January 1980 and May 1998 at Seoul National University Children Hospital were reviewed retrospectively. Inguinal hernia developed in 28 cases(10.7 %), but six patients had an inguinal hernia before the VP shunt was placed. Patients who had a VP shunt before 6 months of age developed inguinal hernia in 16.2 %(12/74) of cases, patients shunted between 6 months and 2 years had an incidence of 12.4 %(11/89) and only 5.1 %(5/99) of patients operated upon after 2 years of age developed hernias. Twenty-two patients out of 256 cases (8.6 %) developed inguinal hernia after VP shunt, with male predominance(M : F=4.5:1). Eight patients developed inguinal hernia bilaterally(36.4 %). It is suggested that at least 14% of processus vaginalis is patent until 2 years old.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.87-90
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• 2010

Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea Hyperammonemia in the newborn often leads to severe fatal illness associated with hyperammonemic encephalopathy. Transient hyperammonemia in newborns (THAN) is characterized by self-limiting, transient hyperammonemia during the neonatal period. THAN may have favorable long-term outcomes if it is diagnosed early and appropriately managed. However, severe hyperammonemia can develop even in newborns with THAN, which may require emergent management. Here we report a case of THAN with severe hyperammonemia during the neonatal period that was successfully treated with continuous renal replacement therapy and nitrogen-scavenging medications. Our patient went on to develop normally and has not re-experienced a hyperammonemic episode until 9 months of age without the administration of a protein restricted diet or medications.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.19 no.1
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• pp.44-53
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• 2016

Purpose: Parenteral nutrition (PN) not only provides nutritional support but also plays a crucial role in the treatment of children with intestinal failure. The aim of this study was to evaluate the clinical significance and clinical outcomes of long-term PN. Methods: Retrospective cohort study was conducted using the medical records of patients treated at Seoul National University Children's Hospital. This study included 19 patients who received PN for over six months. Most patients received home PN. Results: The indications for PN included short bowel syndrome, chronic intestinal pseudo-obstruction, and intractable diarrhea of infancy. The median age of PN initiation was 1.3 years, and the median treatment duration was 2.9 years. Two patients were weaned from PN; 14 continued to receive PN with enteral feedings; and 3 patients died. The overall survival rates at 2 and 5 years were 93.3% and 84.0%, respectively. The incidence of catheter-related bloodstream infections was 2.7/1,000 catheter-days and was associated with younger age at PN initiation and lower initial height Z-score. Six patients developed catheter-related central vein thrombosis, with an incidence of 0.25/1,000 catheter-days. Eleven patients experienced PN-associated liver disease (PNALD), and one patient underwent multi-visceral transplant. The patients with PNALD exhibited lower final heights and body weight Z-scores. All patients experienced micronutrient deficiencies transiently while receiving PN. Conclusion: PN is an important and safe treatment for pediatric intestinal failure. PNALD was linked to final anthropometric poor outcomes. Micronutrient deficiencies were common. Anthropometric measurements and micronutrient levels must be monitored for successful PN completion.

• Journal of Korean Neurosurgical Society
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• v.66 no.2
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• pp.162-171
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• 2023

Objective : The goal of this study was to analyze the clinical outcomes of endoscopic third ventriculostomy (ETV) and endoscopic septostomy when shunt malfunction occurs in a patient who has previously undergone placement of a ventriculoperitoneal shunt. Methods : From 2001 to 2020 at Seoul National University Children's Hospital, patients who underwent ETV or endoscopic septostomy for shunt malfunction were retrospectively analyzed. Initial diagnosis (etiology of hydrocephalus), age at first shunt insertion, age at endoscopic procedure, magnetic resonance or computed tomography image, subsequent shunting data, and follow-up period were included. Results : Thirty-six patients were included in this retrospective study. Twenty-nine patients, 18 males and 11 females, with shunt malfunction underwent ETV. At the time of shunting, the age ranged from 1 day to 15.4 years (mean, 2.4 years). The mean age at the time of ETV was 13.1 years (range, 0.7 to 29.6 years). Nineteen patients remained shunt revision free. The 5-year shunt revision-free survival rate was 69% (95% confidence interval [CI], 0.54-0.88). Seven patients, three males and four females, with shunt malfunction underwent endoscopic septostomy. At the time of shunting, the age ranged from 0.2 to 12 years (mean, 3.9 years). The mean age at the time of endoscopic septostomy was 11.9 years (range, 0.5 to 29.5 years). Four patients remained free of shunt revision or addition. The 5-year shunt revision-free survival rate was 57% (95% CI, 0.3-1.0). There were no complications associated with the endoscopic procedures. Conclusion : The results of our study demonstrate that ETV or endoscopic septostomy can be effective and safe in patients with shunt malfunction.