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Case Report
Prevention and Dissociation of the Platelet Aggregation in a Patient with EDTA-dependent Pseudothrombocytopenia by Supplementation of Kanamycin : A Case Report
In-sang Jeon, Sung Wan Yang
Clin Exp Pediatr. 2005;48(6):675-677.   Published online June 15, 2005
Pseudothrombocytopenia is usually associated with anticoagulant ethylene diaminetetraacetic acid (EDTA). The platelet clumping that occurs in EDTA-dependent pseudothrombocytopenia (EDPT) can sometimes be prevented by the use of other anticoagulants such as heparin or sodium citrate. As an alternative, we used kanamycin before or after the withdrawal of EDTA-anticoagulated blood in a 6-year-old boy with EDPT. Kanamycin used supplementarily during the...
A Case of Congenital Nephrogenic Diabetes Insipidus Confirmed by Gene Analysis
Eun Young Cho, Jin Hee Oh, Dae Kyun Koh
Clin Exp Pediatr. 2005;48(6):669-674.   Published online June 15, 2005
Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked...
A Case of Infantile Hemangioendothelioma of the Liver Treated with Hepatic Embolization and Lobectomy
Jae Seon Kim, Soo Kyung Moon, Hye Sun Yoon, Tae Seok Lee
Clin Exp Pediatr. 2005;48(6):660-664.   Published online June 15, 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...
A Life-Threatening Case of Tubular Esophageal Duplication Complicated with Aneurysm of the Aorta
Yeon Kyung Jung, Gyeong Hoon Lee, Hai Lee Chung, Ki Sung Park, Kyung-Jae Jung, Chang Ho Cho
Clin Exp Pediatr. 2005;48(6):655-659.   Published online June 15, 2005
Esophageal duplication cysts are rare congenital lesions that occur as a result of a failure in the tubulation of the esophagus. They are most frequently single, tubular, or cystic. They may cause compressive symptoms or may be discovered incidentally on chest radiographs. They become symptomatic when complications develop. Symptoms often are related to the location of the duplication; esophageal lesions...
A Case of Chylous Mesenteric Cyst in a Neonate
Hyun Taek Lim, Jung Hwa Lee, So Hee Lee, Jeong Eun Kim, Seong Jin Hong, Young Chil Choi, Sang Yun Kim
Clin Exp Pediatr. 2005;48(5):569-571.   Published online May 15, 2005
Mesenteric cysts are one of the least common intraabdominal lesions, which are very rare in neonates. Among mesenteric cysts, a chylous cyst is the rarest one of all. This entity can be found anywhere in the gastrointestinal tract from the duodenum to the rectum. Mesenteric cysts may be asymptomatic and found on routine examinations, or can present with symptoms such...
A Case of Acute Renal Failure Caused by Rhabdomyolysis due to Hyperosmolar Nonketotic Coma in Children
Jeong Won Kwak, Jae Min Oh, Su Yung Kim
Clin Exp Pediatr. 2005;48(5):565-568.   Published online May 15, 2005
Hyperosmolar nonketotic coma complicated in diabetes mellitus has been a rare cause of rhabdomyolysis, although increasingly reported recently. Acute renal failure can be complicated in 15 percent of rhabdomyolysis patients, but is rare in the case of rhabdomyolysis caused by diabetic hyperosomolar nonketotic coma. We report a 14 years-old boy with acute renal failure complicated by rhabdomyolysis caused by diabetic...
Isolated 3-Methylcrotonyl CoA Carboxylase Deficiency Detected by Newborn Screening Program Using Tandem Mass Spectrometry
Ju Young Kwak, Jun Young Park, Kyung A Nam, Sang Hi Son, Son Sang Seo
Clin Exp Pediatr. 2005;48(5):561-564.   Published online May 15, 2005
Isolated deficiency of 3-methylcrotonyl CoA carboxylase is a rare disorder of the catabolic pathway for leucine and many patients have mild symptoms or no symptom. However, the introduction of tandem mass spectrometry in newborn screening has revealed an unexpectedly high incidence of this disorder. We report an asymptomatic premature infant with isolated 3-methylcrotonyl CoA carboxylase deficiency detected by newborn screening...
A Case of Congenital Laryngeal Atresia with Single Umbilical Artery Who Required a Tracheotomy
Ho Sung Wi, Hey Sung Baek, Jae Won Oh, Myung-Kul Yum, Yong Joo Kim, Soo Jee Moon, Kyung Tae, Chang-Ryul Kim
Clin Exp Pediatr. 2005;48(5):557-560.   Published online May 15, 2005
Congenital laryngeal atresia is a rare cause of airway obstruction that is almost always lethal within a few minutes after birth. Therefore congenital laryngeal atresia should be diagnosed in the prenatal period. If not, it should be considered in newborn infant with life-threatening symptoms at birth such as cyanosis and dyspnea that need emergent procedures like a tracheotomy. We report...
A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene
Hyuk Lee, Jung In Park, Sun Young Kim,, Kyeung Hee Moon, Ho Keun Yi, Pyoung Han Hwang
Clin Exp Pediatr. 2005;48(5):551-556.   Published online May 15, 2005
Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and malignancies. The phenotype observed in this syndrome is caused by mutation in the Wiskott-Aldrich syndrome protein(WASP) gene localized to the proximal short arm of the X chromosome and recently isolated...
A Case of Jejunal Juvenile Polyp Presented as Intussusception
Ki Beom Kwon, Mee Yong Shin, Kye Won Kwon, Jae Ock Park
Clin Exp Pediatr. 2005;48(4):453-456.   Published online April 15, 2005
Single or scattered sequential hamartomatous juvenile polyps are common in the large intestine, especially the rectosigmoid area, where they are usually nonfamilial. Juvenile polyps arising in the small inestine are very rare. Juvenile polyps are usually found in children aged between 1 and 10 years, the majority of cases are between 2 and 4 years of age. Bleeding is the...
A Case of Neurofibromatosis Combined with Ectopic Kidney
Eugene Yang, Bo Hyun Kim, Joon Soo Lee
Clin Exp Pediatr. 2005;48(4):448-452.   Published online April 15, 2005
Neurofibromatosis(NF) is an autosomal dominant disorder, probably of neural crest origin that affects all three germinal layers. It is a group of heterogeneous multisystemic neurocutaneous disorders involving both neuroectodermal and mesenchymal derivatives. Type 1(von Recklinghausen disease) is the most common neurocutaneous disorder among the eight subtypes. Previous reports showed various involvements in the renal organ. Renovascular hypertension is the most...
A Case of Systemic Castleman's Disease in a Child and Successful Treatment with Oral Prednisolone
So Eun Koo, Mee Jeong Lee, Jeong Eun Kim, Joo Ryung Huh, Thad Ghim
Clin Exp Pediatr. 2005;48(4):443-447.   Published online April 15, 2005
Castleman's disease is a rare non-neoplastic lymphoproliferative disorder of unknown etiology. It is divided into three histologic subtypes; hyaline-vascular(HV), plasma cell(PC) type and mixed type (HV-PC). It has two clinical expressions. The localized form, which presents as a slow growing mass, has a relatively benign clinical course. The multicentric form is multilocated and holds significant morbidity. The mainstay of treatment...
A Case of Kawasaki Disease with Mycoplasma Pneumonia
Se Min Lee, So Eun Park, Yeun Woo Kim, Jung Yeun Hong
Clin Exp Pediatr. 2005;48(4):438-442.   Published online April 15, 2005
Kawasaki disease is an acute febrile vasculitis that occurs predominantly in young children under 5- years-old. The patients present generally with a high spiking fever that is unresponsive to antibiotics and lasts for more than five days at least. Prolonged fever has been shown to be a risk factor in the development of coronary artery disease. It seems to be...
A Case of Trichobezoar in a Child Who Visited with Intermittent Abdominal Pain, Nausea and Vomiting
Seung-In Ahn, Jung-Suk Yoo, Kyung-Chang Oh, Bong-Lim Kim, Sung-Sub Kim, Yeun-Ho Kim, Jin-Keun Chang
Clin Exp Pediatr. 2005;48(4):433-437.   Published online April 15, 2005
Bezoars are concretions commonly found in the stomach and small bowel, and four types of bezoars have been described based on their composition : trichobezoar, phytobezoar, lactorbezoar, and miscellaneous. Bezoars most often develop after gastric operations that alter the motility, emptying, and grinding of food in the stomach. Trichobezoars are most common in female children with normal gastrointestinal function and...
A Case of Neonatal Lupus Erythematosus Associated with Anti-U1RNP Antibodies
Byung-Hoon Ahn, Gu Chang Lee, Tae Young Yoon, Mi-Jung Kim
Clin Exp Pediatr. 2005;48(3):342-345.   Published online March 15, 2005
Neonatal lupus erythematosus(NLE) is a distinct subset of lupus characterized by cutaneous findings, cardiac conduction defects, hepatic or hematologic abnormalities. These manifestations are associated with the presence of maternal auto-antibodies such as anti-SSA/Ro, anti-SSB/La, and rarely anti- RNP(U1RNP) antibodies. Cases of U1RNP antibody-positive NLE have somewhat atypical cutaneous manifestation without cardiac or systemic abnormalities. We report a case of cutaneous...
Hyperthyroidism Caused by a Mutation in the Thyrotropin Receptor Gene in Two Brothers
Jae Hyun Kim, Sung Soo Lee, Jung Sub Lim, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2005;48(3):337-341.   Published online March 15, 2005
Thyrotropin receptor(TSHR) mutations must be considered when congenital hyperthyroidism has persisted, but there has been no evidence for autoimmunity. TSHR mutations leading to constitutive activation of the thyroid gland were identified as the molecular cause of autosomal dominant nonautoimmune hyperthyroidism and sporadic congenital hyperthyroidism. We report two cases of hyperthyroidism caused by germline TSHR mutation who presented with exessive sweating...
A Case of Bronchogenic Cyst with Nausea and Epigastric Pain
Ji-Hyun Kim, Kang-Won Rhee, In-Seok Lim, Byung-Hoon Yoo, Eung-Sang Choi
Clin Exp Pediatr. 2005;48(3):333-336.   Published online March 15, 2005
Bronchogenic cysts are rare congenital anomalies that arise early in gestation from abnormal budding of the developing respiratory system. Mediastinal bronchogenic cysts account for 10-15 percent of all primary mediastinal masses; 63.7 percent of patients are symptomatic. Common symptoms are fever, chest pain, cough, dyspnea, and dysphagia. Gastrointestinal symptoms except dysphagia are rare. It can be life threatening with compression,...
A Case of Idiopathic Interstitial Pneumonia in Childhood
Su-Jin Lee, Eon-Woo Shin, Eun-Young Park, Phil-Soo Oh, Kon-Hee Lee, Kwang-Nam Kim, Ho-Seung Shin, Il-Seung Lee
Clin Exp Pediatr. 2005;48(3):327-332.   Published online March 15, 2005
Interstitial lung disease refers to a group of pulmonary disorders characterized by inflammation of the interstitium, derangements and loss of alveolar capillary units leading to disruption of alveolar gas exchange, which induces symptoms of restrictive lung disease. Cases of interstitial pneumonia in children are uncommon and mostly have unknown causes. We have experienced an 8-year old boy who had symptoms...
A Case of Multiple Giant Coronary Aneurysms with Large Mural Thrombus due to Kawasaki Disease in a Young Infant
Eun Na Choi, Jeoung Tae Kim, Yuria Kim, Byung Won Yoo, Deok Young Choi, Jae Young Choi, Jun Hee Sul, Sung Kye Lee, Dong Soo Kim, Young Hwan Park
Clin Exp Pediatr. 2005;48(3):321-326.   Published online March 15, 2005
Kawasaki disease is an acute systemic vasculitis of unknown origin. Giant coronary aneurysm is one of the most serious complications, although peripheral artery vasculitis can produce life-threatening events. Myocardial ischemia and infarction can be caused by coronary artery stenosis, aneurysm, and stagnation of blood flow in coronary arteries which triggers thromboembolism. Atypical presentation in young infants often interferes with prompt...
A Case of Atypical Teratoid/Rhabdoid Tumor Arising from the Supratentorial Area
Kyeong Hun Jung, Young Se Kwon, Yong Hun Jun, Soon Ki Kim, Young Jin Hong, Byong Kwan Son, Eun Young Kim, In Suh Park
Clin Exp Pediatr. 2005;48(2):228-231.   Published online February 15, 2005
Atypical teratoid/rhabdoid tumor may arise at any central nervous system location, but it is most commonly located in the cerebellum(60 percent). The incidence of this tumor remains unclear but it occurs most commonly in children less than 2 years of age. This highly malignant tumor shows a rapid progression and nonspecific radiologic findings. We report a case of primary intracranial...
A Case of Protein Losing Enteropathy Associated with Henoch-Sch nlein Purpura
Kee Dae Kim, Chang Whan Oh, Eun Young Lee, Jae Young Kim
Clin Exp Pediatr. 2005;48(2):224-227.   Published online February 15, 2005
Henoch-Sch nlein purpura(HSP) is an IgA mediated immune complex vasculitic disease characterized by non-thrombocytic purpura, arthritis, gastrointestinal manifestations, and glomerulonephritis. HSP related glomerulonephritis induces hypoproteinemia and edema in some cases. Protein-losing enteropathy is another rare but known manifestation of HSP leading to hypoproteinemia and edema. We report a 6-year-old girl with HSP who showed edema caused by intestinal protein loss,...
A Case of Pulmonary Sequestration with Pleural Effusion
Hye Jin Ku, Ji Ae Park, Su Eun Park, Young Dae Kim
Clin Exp Pediatr. 2005;48(2):221-223.   Published online February 15, 2005
Congenital pleural effusions are uncommon. The majority of cases are due to chylothorax, hydrops fetalis, and infection. Effusions of this nature are, for the most part, self-limited. We experienced a rare case of a congenital unilateral pleural effusion due to an extralobar sequestraion with pulmonary lymphangiectasia. Pleural effusion was found by antenatal ultrasonography and confirmed by CT scans and CT...
Two Case of Pulmonary Arteriovenous Fistula Treatment Depending on the Presence of Pulmonary Hypertension
Yun Jeong Huh, Jeong Tae Kim, Jae Young Choi
Clin Exp Pediatr. 2005;48(2):216-220.   Published online February 15, 2005
Pulmonary arteriovenous fistulas(PAVFs) is a rare disorder that occurs in two to three children per 100,000 population. It is presented as absence of intervening capillary beds between the pulmonary artery and vein with resultant persistent right to left shunt. Other causes include trauma, liver cirrhosis, malignancy and schistosomiasis. It is mostly asymptomatic, but it may present with respiratory difficulty, cyanosis,...
A Case of Renovascular Hypertension Controlled by Renal Artery Embolization
Jung Hun Yew, Young Deuk Kim, Byung Seok Shin, Hong Ryang Gil
Clin Exp Pediatr. 2005;48(2):212-215.   Published online February 15, 2005
Renal artery stenosis is a major cause of renovascular hypertension and the most common cause of treatable secondary hypertension. There are several methods to treat renal artery stenosis, including surgery, percutaneous transluminal renal angioplasty(PTRA), and renal artery stenting(RAS). But, renal artery embolization can be tried in atherosclerotic stenosis, multiple stenosis, microaneurysm, and stenosis difficult to try PTRA or RAS. We...
A Case of Basaloid Squamous Cell Lung Carcinoma in an 11-year-old Boy
Nyeon Cheon Kim, Seung Soo Kim, Won Suk Seo, Kyeong Bae Park, Joon Soo Park, Sang Mann Shin, Hyun Deuk Cho
Clin Exp Pediatr. 2005;48(2):208-211.   Published online February 15, 2005
Primary lung cancer is unusual in children; the squamous cell variant is extremely rare. Lung cancer is classified by histologic types into small-cell lung cancer, non-small cell lung caner, carcinoid, mucoepidermoid carcinoma, and adenoid cystic carcinoma. Furthermore, non-small cell lung cancer is subclassified into adenocarcinoma, large-cell carcinoma, and squamous cell carcinoma. The incidence of lung cancer is influenced by smoking,...
Two Cases of Renal Stone Associated with Ketogenic Diet
Ju-Young Chung, Ja-Wook Koo, Hoon-Churl Kang, Sang-Woo Kim, Heung-Dong Kim
Clin Exp Pediatr. 2005;48(2):204-207.   Published online February 15, 2005
Ketogenic diet is a high-fat, low-carbohydrate, low-protein diet used in the treatment of epilepsy since 1920's. Recently, it's use for intractable epilepsy in childhood has increased. Complications of ketogenic diet are known to include dehydration, vomiting, diarrhea, renal stones, metabolic derangement, hypercholesterolemia and refusal to eat. We experienced two cases of renal stones in children with intractable epilepsy during ketogenic...
A Case of Retroperitoneal Extrarenal Wilms' Tumor with Metastasis to Lung and Bone
Jea Heon Jeong, Weon Cheol Han, Du Young Choi
Clin Exp Pediatr. 2005;48(1):112-115.   Published online January 15, 2005
Extrarenal Wilms' tumor is a very exceptional tumor which is defined as Wilms' tumor found anywhere other than in the kidneys. Until now less than 60 cases have been reported in the English literature. The tumor can be located in the retroperitoneum, inguinal canal, uterus, cervix, testes, skin and even in the thorax. The diagnosis is almost always made after...
A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy
Yeon Kyung Jung, Gyeong Hoon Lee
Clin Exp Pediatr. 2005;48(1):108-111.   Published online January 15, 2005
Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to- end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but...
A Case of Choledochal Cyst Complicated by Liver Cirrhosis on Pathology in a 20-Month-Old-Girl
Sun Hwan Bae, Sung Yun Choi, Tae Seok Lee, Ho Jeong Lee
Clin Exp Pediatr. 2005;48(1):104-107.   Published online January 15, 2005
Choledochal cyst is considered to be congenital anomalies of the biliary tract, characterized by varying degrees of cystic dilatation at various segments of the biliary tract. A 20-month-old girl was admitted to Eul-Ji general hospital because of abdominal distension. Physical examination revealed marked splenomegaly and hepatomegaly with nodular surface and hard consistency. Laboratory examination showed elevated transaminase level, alkaline phosphatase...
A Case of Meningococcal Meningitis with Complement 9 Deficiency
Sun-Mee Choi, Kyung-Yil Lee, Hyung-Shin Lee, Ja-Hyun Hong, Mi-Hee Lee, Byung-Churl Lee
Clin Exp Pediatr. 2005;48(1):101-103.   Published online January 15, 2005
Meningococcal disease is not rarely associated with abnormalities of the complement system. We experienced a case of C9 deficiency with meningococcal meningitis from a 12-year-old girl. Identification of complement deficiency has implications for management, including family studies, prophylaxis, vaccination, and altered threshold for infection screening and treatment.
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