• The Journal of Pediatrics of Korean Medicine
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• v.18 no.1
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• pp.165-177
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• 2004

Objective : The purpose of this study is to report a pediatric patient combined some peculiar diseases of nervous system in childhood. Methods : The patient with preceding five kinds of retardation developed five kinds of flaccidity and five kinds of spasticity after chronic infantile convulsion. We treated the progress of her condition, measured spasticity of both leg by MAS(Modified Ashworth Scale). Results and Conclusion: The general condition of patient, symptoms of five kinds of flaccidity and MAS grade of both leg spasticity had been improved. And so this study requires further studies about peculiar diseases of nervous system in childhood.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.55-59
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• 2021

West syndrome (WS) presenting with infantile spasms, developmental delay, and hypsarrhythmia has genetic etiology in some patients. Movement disorders or visual impairment that share genetic underpinnings with infantile spasms can provide diagnostic clues for specific genetic mutations. Mutations of the GRIN1 gene encoding the glutamate receptor inotropic N-methyl-D-aspartate subunit can result in WS with hyperkinetic movements, cortical visual impairment, autistic features, and bilateral polymicrogyria. An 11-month-old boy with WS showed hyperkinetic movements and visual impairment. Brain magnetic resonance imaging and metabolic investigations revealed no abnormalities. Whole-exome sequencing revealed a novel likely pathogenic variant (c.1561_1563del; p.Asn521del) of GRIN1 (NM_007327.3). The proband was treated with vigabatrin and became seizure-free within one week. Notably, the cortical blindness improved within 3 months and the hyperkinetic movements resolved one year after the proband became seizure-free. To the best of our knowledge, this is the first report of GRIN1 encephalopathy in Koreans.

• Journal of Chest Surgery
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• v.54 no.6
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• pp.539-542
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• 2021

Resection and reconstruction of the chest wall for the radical surgical treatment of malignant soft tissue tumors are currently considered a substantial challenge for thoracic surgeons. We present an unusual case of infantile fibrosarcoma with tropomyosin 3-neurotrophic receptor tyrosine kinase 1 fusion in a 13-year-old patient. The surgical treatment consisted of radical resection of the right posterior chest wall and reconstruction with the use of the STRATOS (Strasbourg Thoracic Osteosynthesis System) titanium rib bridge system. The patient had a favorable postoperative course and received respiratory-ventilatory rehabilitation, adjuvant therapy with chemotherapeutic agents, immunotherapy, and radiotherapy.

• The Journal of the Korean life insurance medical association
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• v.2 no.1
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• pp.218-232
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• 1985

Congenital hereditary disease is in devided into Infantile type and Adult type, Adult type is hidden for many years and keeps normal renal function till middle age. Cyst is stimultaneously made in both sides and becomes lowered in renal function in 30's to 40's. Infantile type is generally born with the big kidneys, renal failure, undergrowth of intrahepatic bile duct. Both infantile and childhood type have ureteral dilatation and portal hypertension In infantile type, it is mostly developed into renal failure, but generally faces death as a result of hepatic disease. The reason of death is that an abnormal condition of recessive autosome affects the liver and kidneys. While the incidence of infantile type is rare as $0.017{\sim}0.07%$ and it is autosomal recessive heredity, Adult type can rarely exist in infantile period. Though it exists in middle period, 50% of patients can live for 2-4 years after the first symptom incidence and 25% can less than 2 years. It is hard to cure completely in medicine and surgery. Three difficulties in familial incidence are comparative decrease of the donor who have no affection on renal transplantation. For another consideration it is to show the family history for several generations. We, the Med. Dept. of Dae Han Kyouk Life Insurance Co. Ltd., used the ultrasonic apparatus in diagnosing the one case of adult type bilateral polycystic kidney and then doubted the family history. As a result of inspecting the family we experienced bilateral polycystic kidney from 3 persons out of 4 who can be inspected. The results are as follows: 1) We could confirm the polycystic kidney from 3 persons out of 4(75%). 2) Then when they came for check up, chief complaint was the pain in all 3 cases(100%). 3) Accompanying disease was hypertension in 2 cases(67%). 4) In early disease incidence, we couldn't observe the specific change in pathological opinion. 5) All 3 cases are not accompanied with cystic lesion in liver, spleen, pancreas.

• Journal of Yeungnam Medical Science
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• v.9 no.2
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• pp.427-435
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• 1992

We have experienced a case of infantile nephrotic syndrome confirmed by renal biopsy in a 13-month-old female patient who showed growth and develop mental retardation and persistent proteinuria. She revealed mild eyelid edema, joint laxity, delayed speech development and adrenal cortical calcification on the radiologic study. Renal biopsy showed microcystic tubular change, micro-glomeruli and marked mesangial proliferation.

• Journal of Genetic Medicine
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• v.6 no.2
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• pp.161-165
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• 2009

Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-${\alpha}$-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal muscle. The classic infantile form of Pompe disease is characterized by marked cardiomegaly, respiratory failure and severe generalized hypotonia. Most patients die from cardiorespiratory failure or respiratory infection within the first year or two of life without treatment. A "non-classic" phenotype presents with less severe clinical feature and slow progression of disease. We report two patients with non-classic infantile Pompe disease from one family manifested hypertrophic cardiomyopathy and progressive proximal weakness.

• Korean Journal of Bronchoesophagology
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• v.13 no.1
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• pp.29-32
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• 2007

Background and Objectives: Improvements in the fields of neonatology and surgical subspecialities make tracheotomy possible to the younger population. But complication rates for infantile tracheotomy are significantly higher than that for the other pediatric tracheotomy. This study was designed to present our 9-year experiences of infantile tracheotomy and to evaluate the effect of several factors of complications. Materials and Methods: From 1996 through 2004, 60 tracheotomies were performed. Charts were reviewed with respect to indications for tracheotomy, underlying diseases, success rate in decannulation and length of support time until decannulation, complication and mortality rate. Results: There were 41 male patients and 19 female patients. Ventilatory support for neurological impairment(38.3%) was the leading indication for tracheotomy, followed by subglottic stenosis(36.7%), laryngomalacia(13.3%). Decannulation was accomplished in 60.0% of infants with an average of 56.5momths with tracheotomy. Complications occurred in 43.3%. There was one tracheotomy-related mortality in case of tracheal atresia. Most common complication was subglottic stenosis. Conclusion: Infantile tracheotomy had significant morbidities and its outcomes are thought to be usually related to the underlying disease and age. To prevent complication, early decannulation is advisable, and for long-term tracheotomy patients, regulation of reflux and infection may be necessary.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.2
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• pp.116-120
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• 2014

Inflammatory myofibroblastic tumor (IMT) is rare mesenchymal solid tumor that consists of proliferating myofibroblasts with an inflammatory infiltrate background. It has a very low prevalence in infants and occurs mainly in children and young adults. IMT are mainly located in the thoracic cavity, but intra-abdominal lesions are rare. IMT can exhibit locally aggressive neoplastic processes and metastases similar to malignancies, so, have clinical importance. Herein, we describe two infantile intra-abdominal IMT cases presenting with incidentally found palpable abdominal mass. A 4-month-old male infant had IMT at the ileal mesentery and a 5-month-old male infant had IMT at liver. Both cases were successfully treated by complete surgical resection without complication or recurrence. Considering the biological behavior of the intermediate type of neoplasm in IMT, we expect good survivals when achieving appropriate surgical resection without adjuvant therapy in infantile intra-abdominal IMT.

• Advances in pediatric surgery
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• v.5 no.1
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• pp.64-68
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• 1999

The length, diameter and muscle thickness of the pylorus were measured by ultrasonograms in 15 infants with infantile hypertrophic pyloric stenosis(IHPS). These measurements were compared to assemble measurements of infants who came in for the routine vaccination and underwent ultrasonogram. This study also studied by ultrasound the changes in the pylorus of patients who underwent pyloromyotomy 4 weeks and 8 weeks postoperatively. According to $Carver^5$, the pyloric muscle volume(PMV) and pyloric muscle index(PMI) were calculated in each case. The pyloric muscle volume, PMI and the thickness of pyloric muscle proved to be a more reliable guide to diagnose IHPS than length and diameter of pylorus. The pyloric muscle length, diameter, thickness and pyloric muscle volume were not normalized at 4 and 8 weeks after pyloromyotomy. However, pyloric muscle index was normalized at 4 weeks postoperatively perhaps as the result of rapid weight gain after pyloromyotomy.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.660-664
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• 2005

Infantile hemangioendothelioma(IHE) of the liver is the most common vascular tumor in infants before the age of 6 months. It is a histologically benign tumor with potentially life-threatening complications. The clinical manifestations are variable, ranging from asymptomatic forms to intractable high-output heart failure. In addition, abdominal mass, intraperitoneal hemorrhage due to rupture of mass, respiratory distress, hematologic abnormalities and jaundice can occur. Diagnostic work-up is through doppler ultrasound sonography, computed tomography scan, magnetic resonance imaging and angiography. Treatment consists of medical treatment, interventional therapy, surgical resection and liver transplantation. We experienced symptomatic IHE in a premature neonate who presented with high output heart failure and respiratory distress. Initial medical treatment and steroid therapy failed to improve his condition. Coil embolization of left hepatic artery resulted in improvement of respiratory symptoms. However, a left lobectomy was performed because the mass size was not decreased with development of collateral vessels. The infant was well, after a successful discharge from the hospital.