• Clinical and Experimental Pediatrics
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• v.57 no.1
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• pp.50-53
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• 2014

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with severe sepsis-like features and required mechanical ventilation and continuous venovenous hemodiafiltration. Flow cytometry analysis showed marked HLH and complete absence of intracytoplasmic perforin expression in cytotoxic cells; therefore, we performed molecular genetic analyses for PRF1 mutations, which showed that the patient had a compound heterozygous mutation in PRF1, that is, c.65delC ($p.Pro22Argfs^*2$) and c.1090_1091delCT ($p.Leu364Glufs^*93$). Clinical and genetic assessments for FHL are required for neonates with refractory fever and progressive multiple organ failure, particularly when there is no evidence of microbiological or metabolic cause.

• Radiation Oncology Journal
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• v.11 no.1
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• pp.59-67
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• 1993

Between December 1979 and September 1989, 23 patients with craniopharyngioma who underwent surgery and postoperative radiation therapy were retrospectively evaluated to assess the efficacy of this management at the Department of Therapeutic Radiology, Seoul National University Hospital. Total removal of tumor was attempted in all patients. Of these, surgeons tried total removal in eight patients, but revealed residual mass by postoperative CT, and partial removal was done in 15 patients. The morphology of tumor on the operative finding was grouped into three types: cystic 13 ($57{\%}$), solid 4 ($17{\%}$), and mixed 6 ($26{\%}$). Cystic type was predominant in$\leq$20 years old group. Actuarial overall survival rates at 5 and 10 years were $95{\%}$ and $81{\%}$ respectively and actuarial tumor control rates were $74{\%}$ and $50{\%}$. Surgical extent was not related to the survival rates (p=0.41). Pediatric and adolescent patients (age of$\leq$20 years) had a trend of better survival than that of adult patients (p=0.10). The results indicated that limited surgical excision followed by radiation therapy is recommended when total excision is not possible.

• Childhood Kidney Diseases
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• v.1 no.2
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• pp.189-194
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• 1997

Oligomeganephronia is a rare congenital form of bilateral renal hypoplasia histologically characterized by reduction in number and hypertrophy of nephrons. Clinically, this condition is presented in early infancy with vomiting, polyuria, polydipsia and dehydration. The problems are readily corrected, but slowly progressive renal failure follows accompanied by failure to thrive, short stature, and renal osteodystrophy. We experienced three cases of oligomeganephronia. Case 1. : A 3 2/12 years old female child was incidentally diagnosed as renal failure at age of 2 months when she was hospitalized due to pneumonia. She had open renal biopsy and was diagnosed as bilateral dysplastic kidney. On OPD follow-up, she progressed to end-stage renal failure (BUN/Cr 114/4.6 mg/dl) and had renal transplantation. The specimen was shrunk remarkably and light microscopy showed oligomeganephronia. Case 2. : A 14 8/12 years old female child with proteinuria was detected in an annual urine screening program for school children, she was diagnosed as renal failure (BUN/Cr 33.9/4.1 mg/dl), and had $5{\times}4{\times}3\;cm$ sized mass on abdominal CT scan. She had renal biopsy, and the specimen showed oligomeganephronia. She had hemodialysis for six months, and renal transplantation along with bilateral nephrectomy was performed. Case 3. : A 14 8/12 years old male child was diagnosed having chronic nephritis and chronic renal failure at 3 years old, progressed to end-stage renal failure (BUN/Cr 87/9.6 mg/dl) on OPD follow-up, and had a rephrectomy and renal transplantation. The biopsy specimen showed oligomeganephronic hypoplasia, secondary focal segmental glomerolosclerosis, and chronic interstitial nephritis. We report 3 cases of oligomeganephronia that progressed to end-stage renal failure and had successful renal transplantation with a brief review of related literatures.

• Pediatric Infection and Vaccine
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• v.13 no.2
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• pp.180-185
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• 2006

Invasive Pseudomonas infections most often occur in the immunocompromised patients and are associated with high mortality rate. Rarely this disease may develop in healthy infants and children. We report two cases of invasive Pseudomonas aeruginosa infections that were diagnosed in otherwise healthy infants. The first case was a previously healthy 5-month-old infant with ecthyma gangrenosum and septicemia. She presented with fever, swelling of left periorbital area and multiple erythronodular skin lesions. Each skin lesion formed a black eschar surrounded by an erythematous areola over time. Cultures of blood, urine and discharge from skin lesions grew P. aeruginosa. On the day of visit, she showed pancytopenia which was normalized after 10 days. The patient responded well to the management with ceftazidime and tobramycin. The other case was a previously healthy 9-month-old infant with community-acquired pneumonia. He was referred from an outside hospital with fever and cough. Chest x-ray revealed pneumonic infiltrations on both lower lungs with pleural effusion on the right side. Cultures of blood and pleural fluid grew P. aeruginosa. Chest CT performed on the ninth day demonstrated pneumatoceles, lung abscess and necrosis of lung parenchyma. He was managed with ceftazidime and amikacin for 50 days. No residual pulmonary complications were noted during the three month follow-up. Laboratory results to evaluate immunologic defects of phagocytic cells, complement components and T- and B-lymphocytes were all within normal range in both patients. It should be kept in mind that Pseudomonas can be, though uncommon, a cause of community-acquired invasive infections in the previously healthy infants.

• Advances in pediatric surgery
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• v.16 no.2
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• pp.154-161
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• 2010

Pulmonary sequestration (PS) is a rare congenital malformation of the lower respiratory tract. The anomaly is characterized by absence of communication with the tracheobronchial tree and isolated blood supply from an anomalous systemic vessels. With the utilization of antenatal ultrasound, the diagnosis of asymptomatic neonatal PS has increased. Treatment options include observation, arterial embolization and surgical resection. The aim of the present study is to review the clinical course of PS and to share our experience with thoracoscopic resection. A total of 96 patients with PS were treated at Asan Children's Hospital between 1999 and 2010. The diagnosis of PS was established by CT in the cases managed by observation or embolization, and by tissue pathology in the surgical cases. Medical records and radiographic images were retrospectively reviewed. Thirty-nine patients were managed by embolization and 30 patients by surgery. The remaining 27 patients have been under observation without any procedures. Among 27 observation patients, 1 patient regressed completely and 10 patients were lost to follow up. Of the 39 embolizations patients, 2 had their lesion regress and sepsis was suspected after embolization. In 1 patient, the microcoil migrated to the iliac artery during the embolization procedure, and another patient developed renal abscess caused by renal artery embolization. Among 30 surgical cases, resection by thoracotomy was performed in 27 at the Department of Thoracic Surgery, and thoracoscopic resection in 3 at the Division of Pediatric Sugery. Only one wound complication ocurred. We conclud that surgical excision should be recommended for pulmonary sequestration, whether the sequestration is symptomatic or not because of the risk of infection, the low rate of natural regress, poor compliance, severe complications after embolization, and to exclude other pathology. In summary, thoracoscopic resection of the pulmonary sequestration is feasible, efficacious, safe and cosmetically superior even in neonatal period.

• The korean journal of orthodontics
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• v.36 no.4
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• pp.284-294
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• 2006

Objective: Activating mutations in the fibroblast growth factor receptor-2 (FGFR2) have been shown to cause syndromic craniosynostosis such as Apert and Crouzon syndromes. The purpose of this pilot study was to investigate the resultant phenotypes induced by the two distinctive bone-targeted gene constructs of FGFR2, Pro253Arg and Cys278Phe, corresponding to human Apert and Crouzon syndromes respectively. Methods: Wild type and a transgenic mouse model with normal FGFR2 were used as controls to examine the validity of the microinjection. Micro-CT and morphometric analysis on the skull revealed the following results. Results: Both Apert and Crouzon mutants of FGFR2 induced fusion of calvarial sutures and anteroposteriorly constricted facial dimension, with anterior crossbite present only in Apert mice. Apert mice differed from Crouzon mice and transgenic mice with normal FGFR2 in the anterior cranial base flexure and calvarial flexure angle which implies a possible difference in the pathogenesis of the two mutations. In contrast, the transgenic mice with normal FGFR2 displayed normal craniofacial phenotype. Conclusion: Apert and Crouzon mutations appear to lead to genotype-specific phenotypes, possibly causing the distinctive sites and sequence of synostosis in the calvaria and cranial base. The exact function of the altered FGFR2 at each suture needs further investigation.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.1
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• pp.54-60
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• 2004

Purpose: Henoch-$Sch{\ddot{o}}nlein$ purpura (HSP) is a small-vessel vasculitic disease that most often affects the skin. Abdominal symptoms precede the typical purpuric rash of HSP in 14~36%. It is a challenge to diagnose HSP in the absence of a rash, because there are no biologic tests that can identify HSP with certainty, so we tried to find out the characteristic features of HSP gastroenteropathy without purpura before diagnosis. Methods: This study included 82 children with HSP who had been admitted or visited outward of the Department of Pediatrics, Pusan National University Hospital from 1995 to 2000. The cases that the onset of purpura preceded or coincided that of abdominal pain were defined as purpura-positive group. The cases that the onset of abdominal pain preceded purpura more than 1 week and purpura was not presented till diagnosed as HSP gastroenteropathy were defined as purpura-negative group. We compared and analyzed the clinical features of the two groups by reviewing the medical records retrospectively. To ensure the diagnosis of HSP gastroenteropathy, we conducted upper GI series, abdominal ultrasonogram, abdominal CT, endoscopy and/or skin biopsy. Results: The number of cases of purpura-positive group and purpura-negative group were 72 and 10, respectively. There is no difference between two groups in the incidence of clinical symptoms and laboratory findings. Children with HSP gastroenteropathy had characteristic erosive or ulcerative lesions in the stomach or duodenum on esophagogastroduodenoscopy, or mural thickening of the small bowel on abdominal ultrasonogram, CT or upper GI series. Skin biopsy revealed leukocytoclastic vasculitis in 3 of them, although biopsy specimen was taken from any areas of normal- appearing skin. In purpura-negative group, 9 patients improved by steroid therapy. Conclusion: In purpura-negative group, there is no diagnostic feature on the laboratory findings and clinical features. Therefore, to diagnose HSP gastroenteropathy in patients with abdominal pain in the absence of the characteristic rash, careful observation of clinical features and laboratory data, and prompt application of available diagnostic tools such as gastrointestinal endoscopy, radiologic study and skin biopsy are recommended. Early use of corticosteroid may reduce the suffering in these patients.

• The Korean Journal of Nuclear Medicine Technology
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• v.21 no.1
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• pp.65-69
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• 2017

Purpose KSNMT(Korea Society of Nuclear Medicine Technology) stepping first step in 1997, has published first journal related with nuclear medicine technology in 1985. With classifying In Vivo Session Dissertation reported in the entire journal, trend of the Dissertation will be studied. Materials and Methods Dissertations which published from 1985 to first half of 2016 in the journal are classified with presentation form and with scanner, And all the data is organized with Excel program. Through the data, the number of dissertations published in each year, the number of dissertation published in details, and keyword distributions in each period are analyzed. Results The number of In-vivo section dissertations was 1151 and the number of In-vivo section dissertations that have common subject with In-vitro section was 28. The number of In-vivo section dissertation in 1980s was 46, in 1990s was 149, in 2000 was 467 and from 2010 to the first half of 2016 was 517. The number of dissertation with original articles was 571, with abstract was 529, with symposium was 31, with special lecture was 25, with review was 11, with interesting image was 7, with poster was 3 and with case report was 2. With symposium and special lecture excluded, which count 56, the number of dissertation with PET was 319, with Planar was 302, with SPECT was 172, with radiopharmaceutical was 113, with guard and safety management 103, with BMD was 28, etc. was 86. The number of dissertation about oncology was 201, about scanner was 179, about cardiovascular and circulatory system was 102, about safe environment was 82, about musculoskeletal system was 76, about nervous nuclear medicine was 66, about quality assurance was 61, about genitourinary system was 56, about endocrine system was 49, about digestive system was 44, about Therapy, about industrial safety was 24, about molecular imaging was 15, infection and inflammation was 9, about respiratory system was 8 and etc. was 108. The mostly used keyword through 1999 to 2005 was PET and through 2006 to 2016 was PET/CT. Conclusion To encourage various dissertations to be submitted, Korea Society of Nuclear Medicine should analyze date about not only about dissertations that are already published, but also about various research materials. Moreover, Korea Society of Nuclear Medicine also have to provide technical support such as sharing big data from homepage and systematical support to its member to publish dissertation that has high impact factor. It is important each individual researcher to have continuing effort as well as each organization cooperation.

• Childhood Kidney Diseases
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• v.3 no.2
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• pp.196-202
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• 1999

Purpose : When the mature kidney fails to reach its norml location in the renal fossa, the condition is known as ectopic kidney. Presenting symtoms can be various and it generally depend on the associated anomaly. Beside urologic anomalies such as hydronephrosis and vesicoureteral reflux, various anomalous vascular net work, skeletal anomaly or genital anomaly can be observed in this condition. Methods : Sixteen children with ectopic kidney was studied retrospectively to analyse initial presentation, accompanied anomaly and prognosis. Results : 56% of the children were accompanied with other urologic anomalies such as true incontinence and vesicoureteral reflux that required surgical treatment. 31% of children were either diagnosed incidentally during evaluation of other non-urologic disease or during follow-up evaluation of abnormal antenatal renal sonogram. Conclusion : Ectopic kidney can be often misdiagnosed as tumorous condition or as a surgical condition depend on the abnormal location of the kidney. Careful evaluation using abdominal sonogram, DMSA, VCUG and abdominal CT scan should be performed in order to search for associated anomalous condition and for proper management.

• Clinical and Experimental Pediatrics
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• v.46 no.12
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• pp.1224-1229
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• 2003

Purpose : Bacterial meningitis is a serious disease, especially in the neonatal period, and it carries a significant degree of mortality and morbidity. Group B streptococcus(GBS) is a common cause of neonatal bacterial meningitis. The purpose of this study was to evaluate the clinical manifestations, treatment results and complications of GBS meningitis. Methods : We analyzed 29 cases retrospectively who had been admitted to the pediatric ward or NICU in Asan Medical Center from May 1990 to January 2002. They had proven GBS in culture or latex agglutination test in CSF. Results : The male to female ratio was 1 : 1.9. There were two cases of early onset type and 27 cases of late onset type. All cases had normal birth weight with full term at delivery. The perinatal predisposing factors were premature rupture of membrane(two cases), and maternal colonization(two cases). The most common presenting symptoms were fever and irritability. Associated diseases were GBS sepsis(21 cases). There was relatively high sensitivity to penicillin derivatives. There were abnormal brain CT or MRI findings in 16 cases(64%), such as infarction, encephalomalatic change, effusion, hydrocephalus, hemorrhage and abscess. The intensive care unit admission rate and the incidence of DIC were higher in the group with complications. Two cases were discharged against advice. Conclusion : We recommend early detection and active treatment in Group B streptococcal meningitis to improve the prognosis.