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Case Report
A Case of Diffuse Panbronchiolitis Developing in Childhood
Jung Hoon You, Hyung Shin Lee, Kyung Yil Lee, Ja Hyun Hong, Mi Hee Lee, Byung Cheol Lee
Clin Exp Pediatr. 2005;48(1):97-100.   Published online January 15, 2005
Diffuse panbronchiolitis(DPB) is a chronic inflammatory airway disease predominantly affecting respiratory bronchioles, with distinct clinicopathological profiles. It was first described in 1966 by Yamanaka et al. The etiology of DPB is not yet clear, and the natural history of the disease is respiratory failure leading to cor pulmonale and ultimately death. But the long-term use of low-dose macrolide has proven...
A Case of Moyamoya Disease with Neurofibromatosis Type I
Mi A Lee, Joo Pil Eum, Hae Young Lee, Byung Ho Cha
Clin Exp Pediatr. 2005;48(1):93-96.   Published online January 15, 2005
Neurofibromatosis type I is an autosomal dominant disorder with varied manifestations in bone, soft tissue, the nervous system and skin. This is characterized by cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma, bony displasia, and intertriginous freckling. One of the more serious aspect of the disease relates to the arterial involvement. Vascular changes in neurofibromatosis may occur in any arterial tree...
A Case of Pyomyositis and Toxic Shock Syndrome Caused by Methicillin Resistant Staphylococcus aureus
Yang Kyong Kim, Dal Hyon Kim, Soon Ki Kim, Byong Kwan Son, Young Jin Hong
Clin Exp Pediatr. 2005;48(1):88-92.   Published online January 15, 2005
Pyomysitis is a primary acute bacterial infection of large skeletal muscule, usually occuring in the absence of specific cause of infection. Pyomyositis has been reported mainly in tropical countries and was rare in temperate climates. but it has been recognized with increasing frequency. Toxic shock syndrome(TSS) is an acute mutisystemic disease characterized by high fever, hypotension, multisystem dysfunction and erythematous...
A Case of Neonatal Lupus with Abnormal Liver Function Test and Skin Lesion
Ju-Young Chung, Myoung Jae Chey
Clin Exp Pediatr. 2005;48(1):85-87.   Published online January 15, 2005
Neonatal lupus(NL) is characterized by typical clinical features and the presence of maternal auto- antibodies. The principal serologic markers of NL are anti-Ro/SSA or anti-La/SSB maternal auto- antibodies, which are transferred across the placenta and can be detected for the first few months of the affected child. The major clinical manifestations are cardiac disease, notably congenital heart block, and cutaneous...
A Case of Hypocomplementemic Henoch-Schönlein Purpura Presenting Features of Membranoproliferative Glomerulonephritis
Kyong-A Lee, Tae-Sun Ha
Clin Exp Pediatr. 2005;48(1):81-84.   Published online January 15, 2005
Henoch-Schönlein purpura (HSP) is a systemic disorder characterized by leukocytoclastic vasculitis that can affect multiple organs predominantly the skin, joints, gastrointestinal tract and kidney. Although the specific pathogenesis of HSP is not known, there are several hypotheses. Although the importance of the complement activation in glomerular injury in HSP has been suggested, the complement levels and the blood pressure in...
A Case of Tay-Sachs Disease in Korea Diagnosed by Enzyme Assay and DNA Analysis
Hyun-Seung Jin, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2004;47(12):1360-1363.   Published online December 15, 2004
Tay-Sachs disease is an autosomal recessive, neurodegenerative disorder that results from excessive storage of the cell membrane glycolipid, and GM2 ganglioside within the lysosomes of cells. This disease is caused by deficiency of the isoenzyme β-hexosaminidase A, produced in the endoplasmic reticulum. Patients with Tay-Sachs disease are characterized by normal motor development in the first few months of life, followed...
A Case of Aplastic Anemia following Hepatic Failure by Acute Hepatitis
Hye Jin Ku, Young Tak Lim, Jae Hong Park
Clin Exp Pediatr. 2004;47(12):1356-1359.   Published online December 15, 2004
Aplastic anemia following acute hepatitis or acute hepatic failure is an uncommon disease and has a poor prognosis. We experienced a case of aplastic anemia following acute hepatic failure in a 10- year-old girl. She was admitted because of jaundice and lethargy for 8 days. Laboratory findings revealed marked elevated serum transaminases and bilirubin levels, prolonged prothrombin time and partial...
A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection
Jung Hyun Lee, Eun Seok Roh, Yoo Rah Hong, Jae Sun Park, Ghi Seok Seo, Bang Hur, Mi Hyang Kim
Clin Exp Pediatr. 2004;47(12):1351-1355.   Published online December 15, 2004
Rothmund-Thomson syndrome(RTS), or poikiloderma congenita, is a rare, multisystem disorder. It is inherited genetically as an autosomal recessive trait, occurring predominantly in females(1.4 : 1). The RTS is comprised of poikiloderma, short stature, sparse hair, juvenile cataracts, skeletal defects, dystrophic teeth and nails, photosensitivity, and hypogonadism. We report a case of RTS who died of bleeding from esophageal varices, pulmonary...
A Case of Childhood Acute Lymphoblastic Leukemia with Monosomy 20 and Parotid Gland Involvement
Hae Rim Kim, Seung Ah Hong, Byung Kyu Choe, Heung Sik Kim, Jung Sook Ha, Dong Seok Jeon, Yu Na Kang
Clin Exp Pediatr. 2004;47(12):1347-1350.   Published online December 15, 2004
Hypodiploidy exists in 3-15% of patients with childhood acute lymphoblastic leukemia(ALL) and is associated with a poor prognosis. Monosomy 7 and monosomy 20 account for most karyotypic abnormalities in patients in whom whole chromosomes are lost and their incidences are rare. Parotid tumors in the pediatric age group are unusual and in 1996, there was a case of invasion of...
A Case of Nonspecific Ulcer of the Terminal Ileum Associated with Massive Bleeding
Ju Young Chung, Seong Jun Kim
Clin Exp Pediatr. 2004;47(12):1344-1346.   Published online December 15, 2004
Nonspecific ulcer of the small bowel is rare in children. Nonspecific ulcer of the colon or small bowel is clinically and pathologically recognized as a disease related to intestinal Behcet's disease. Differentiation of nonspecific ulcers from Behcet's ulcer by pathologic findings is often impossible and the clinical course is similar. A 13-year-old boy was admitted due to massive lower gastrointestinal...
A Case of Mycoplasma pneumoniae Pneumonia Complicated with Guillain-Barr Syndrome and Encephalitis
Soon Bum Lee, Hee Jung, Yong Seok Lee, Bum Sun Kwon, Jeesuk Yu
Clin Exp Pediatr. 2004;47(12):1338-1348.   Published online December 15, 2004
The most common pathogen of respiratory tract infection among school-age children and adolescents is Mycoplasma pneumoniae, which causes clinical manifestations of pneumonia, acute asthmatic attack, pharygitis, and tonsilitis. It can also cause extrapulmonary infections that involves skin, the nervous system, the digestive system, the cardiovascular system, and the hematopoietic system. It is reported that the central nervous system symptoms may...
Melanotic Neuroectodermal Tumor of Infancy in the Epididymis : A Case Report
Sang Bae Lee, Seong Hun Lee, Min Hyuk Ryu, Ji Seoung Park, Joo Heoun Yang, Sun Young Kim, Dong Jean Lee
Clin Exp Pediatr. 2004;47(12):1334-1337.   Published online December 15, 2004
Melanotic neuroectodermal tumor of infancy (MNTI) is a rare neoplasm known by a variety of names including melanotic progonoma and retinal anlage tumor, and currently thought to be neural crest derivation. The vast majority develop within the first year of life. The behavior is generally benign, but recurrent and metastatic cases have been documented. It arises in the head and...
A Case of Spinal Cord Injury without Radiographic Abnormality
Seoung Joon Kim, Dae Kyun Koh, Jin Hee Oh, Jong Hyun Kim, Jung Soo Jun
Clin Exp Pediatr. 2004;47(11):1228-1231.   Published online November 15, 2004
A spinal cord injury without radiographic abnormality(SCIWORA) was defined by Pang and Wilberger in 1982 as the "objective signs of myelopathy as a result of trauma" in which no evidence of fracture, subluxation, or instability on plain radiographs, or computed tomography is demonstrable. Inherent elasticity of the vertebral column in infants and young children, among other age-related anatomical peculiarities, render...
A Case of Jarcho-Levin Syndrome with Intrathoracic Kidney
Shin Yun Byun, Myoung Hwa Sung, Jung Mi Choi, Tae Hong Kim, Kyu Geun Hwang, Jin A Jung
Clin Exp Pediatr. 2004;47(11):1225-1227.   Published online November 15, 2004
In 1938, Jarcho and Levin initially described shortening of the trunk, prominent occiput, broad forehead, multiple vertebral defects and ribs anomaly, short neck, increased anteroposterior chest diameter, lordosis, kyphoscoliosis. After that, Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes. We examined a girl who was suspected as suffering from Jarcho-Levin syndrome because...
A Case of Fetal Alcohol Syndrome with Persistent Pulmonary Hypertension of the Newborn
Jin-Ha Chang, Ran Namgung, Min-Soo Park, Kook In Park, Jin-Sung Lee, Chul Lee
Clin Exp Pediatr. 2004;47(11):1220-1224.   Published online November 15, 2004
Fetal alcohol syndrome can be suspected in infants born to mothers with a prenatal history of alcohol abuse if the child exhibits characteristic facial features, together with intrauterine growth retardation, multiple neurological abnormalities, and multiorgan defects. If only a few of the above criteria are satisfied, the term fetal alcohol effects is used. We experienced a neonate who presented with...
A Case of Weaver Syndrome
Jun Chul Byun, Chun Soo Kim, Sang Lak Lee, Tae Chan Kwon, Hee Jung Lee
Clin Exp Pediatr. 2004;47(11):1216-1219.   Published online November 15, 2004
Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations were macrocephaly, unusal facies, simian crease, clinodactyly, decreased muscle tone, accelerated bone age and congenital heart diseases. We report this with a brief review of related literature.
A Case of Del 13(q24) Syndrome with Multiple Anomalies
Sang Yun Lee, Hee Jung Jung, In Hea Nam, Mea Young Jang
Clin Exp Pediatr. 2004;47(10):1128-1131.   Published online October 15, 2004
It has been estimated that chromosomal aberrations account for 2.3% to 3% of normal pregnancies, and of them, 85% are aborted. Therefore, the survival rate of neonates with chromosomal aberrations is very low. Among them, patients with partial deletion of the long arm of chromosome 13 are very rare. The natural history of deletion of the long arm is dependent...
A Case of Dieulafoy's Lesion Presenting Upper Gastrointestinal Bleeding in a Child in the Acute Phase of Kawasaki Disease
Seung Min Lee, Seok Woo Park, Yun Hee Kim, Ji Eun Lee, Young Jin Hong, Byong Kwan Son
Clin Exp Pediatr. 2004;47(10):1124-1127.   Published online October 15, 2004
Dieulafoy's lesion is an unusual cause of massive gastrointestinal bleeding resulting from the erosion of an abnormally large submucosal artery. Recently, improvement of endoscopic techniques has made effective hemostasis possible in most cases of Dieulafoy's lesion. Aspirin, which is an anti-inflammatory agent, increases the incidence of major upper gastrointestinal complications. Gastroduodenal mucosal injury associated with aspirin therapy in patients in...
The VACTERL Association : Tracheal Stenosis, Tracheal Bronchus and Partial Pulmonary Agenesis, Instead of Tracheoesophageal Fistula
Ji Sook Park, Hae Young Lee, Jong Sil Lee, Ji Hyeon Seo, Jae Young Lim, Myong Bum Choi, Chan Hoo Park, Hyang Ok Woo, Hee Sang Youn
Clin Exp Pediatr. 2004;47(10):1119-1123.   Published online October 15, 2004
VACTERL association is a disease with multiple congenital anomalies of the vertebrae, anus, cardia, tracheoesophageal(TE) fistula, renal and limb. This disease is derived from VATER anomaly, accompanied by cardiac and limb anomalies. We experienced a case of a 1-day-old boy with anal atresia, who represented multiple anomalies during hospital course. The multiple anomalies were hemivertebra, anal atresia, complex heart disease(coarctation...
Congenital Pulmonary Vein Stenosis Manifested by Severe Cyanosis in Infancy
Jae Ju Cho, Woo Sung Park, I-Seok Kang, Tae-Gook Jun, Mi-Jin Jung
Clin Exp Pediatr. 2004;47(10):1114-1118.   Published online October 15, 2004
Congenital pulmonary vein stenosis(CPVS) with anatomically normal connection, a rare anomaly, usually leads to progressive pulmonary hypertension, cardiac failure in infancy, and death if untreated. Most are combined with other anomalies, particularly left to right shunt lesions. Very often, the detection of CPVS is overlooked on the initial cardiac echocardiogram, because it may be mild in its severity initially, but...
A Case of Pulmonary Artery Sling Misdiagnosed as Bronchial Asthma
Eun-Jung Cheon, Ki-Soo Kim, Jae-Woo Lim, Kyung-Ok Koh
Clin Exp Pediatr. 2004;47(10):1110-1113.   Published online October 15, 2004
Anomalous left pulmonary artery(pulmonary artery sling) is a congenital anomaly in which the vascular structure arises either from the posterior surface of the right pulmonary artery, or from the main pulmonary artery and courses to the left lung between the posterior surface of the trachea and the anterior surface of the esophagus. It may compress on the tracheobronchial tree causing...
A Case of Fulminant Hepatitis from Hepatitis A in a Child
Young Min Kim, Jae Sun Kim, Sun Hwan Bae, Dong Hoon Kim
Clin Exp Pediatr. 2004;47(10):1106-1109.   Published online October 15, 2004
Fulminant hepatitis from hepatitis A in children is rare and has a low survival rate. We report a case of fulminant hepatitis from hepatitis A in a 12-year-old girl. The patient was admitted because of a three day history of fever, epigastric pain and vomiting. On her second hospital day, she had insomnia, anxiety, dysthesia, continuous fever, vomiting and nausea....
A Case of Subdural Abscess Caused by Morganella morganii
Eun Young Park, Su Jin Lee, Phil Soo Oh, Kwang Nam Kim, Seung Myung Moon
Clin Exp Pediatr. 2004;47(9):1024-1027.   Published online September 15, 2004
Morganella morganii, a gram-negative bacillus and part of normal faecal flora, is recognised as a common cause of urinary tract infection. We report a rare case of subdural abscess caused by M. morganii in an infant. It was secondary to purulent meningitis. The patient improved with treatment that consisted of surgical excision and systemic antibiotics.
A Case of Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Presenting as Uric Acid Lithiasis
Ji Hae Kim, Mi Jung Kim, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 2004;47(9):1020-1023.   Published online September 15, 2004
The deficiency of enzyme hypoxanthine-guanine phosphoribosyltransferase(HPRT) results in hyperuricemia and subsequently manifests in diverse symptoms. Lesch-Nyhan syndrome is a disorder characterized by hyperuricemia, mental retardation, choreoathetosis, spasticity and self-mutilation, resulting from complete deficiency of the enzyme, whereas partial deficiency of the enzyme shows symptoms of milder forms more often without abnormal neurologic signs. A 7-year-old boy with normal growth and...
A Case of Rhizomelic Chondrodysplasia Punctata Occurring in Siblings
Soon Hwa Yoon, Nam Young Kim, Seon Hee Shin, Sung Koo Kim, Kon Hee Lee, Hae Sun Yoon, Jung Eun Kim
Clin Exp Pediatr. 2004;47(9):1016-1019.   Published online September 15, 2004
Chondrodysplasia punctata is a group of heterogeneous bone dysplasia characterized by punctate calcifications of the cartilage, frequently associated with a shortening of the limbs, cataracts, icthyosis and alopecia, alterations of the nervous system, and mental and growth deficiencies. Our case presented findings of the rhizomelic chodrodysplasia punctata : a characteristic face, a sucking difficulty and a short neck. Skeletal radiographies...
A Case of Epidural Emphysema Caused by Vigorous Coughing
Hye Rin Mok, Jin Hee Oh, Dae Kyun Koh
Clin Exp Pediatr. 2004;47(9):1013-1015.   Published online September 15, 2004
A 13-year-old boy was admitted via emergency room with dyspnea after vigorous coughing. Subcutaneous emphysema was palpated on both eyelids and around the neck. Breathing sound was slightly wheezy. On initial chest roentgenogram no parenchymal lesion or pneumothorax except subcutaneous emphysema on the thoracic wall was found. On the second day of hospitalization he showed agitation much more severe than...
Isolated Intracranial Granulocytic Sarcoma as a Relapse Following Unrelated Bone Marrow Transplantation for Myelodysplastic Syndrome in a 1 Year-Old Infant
Kyung Ran Son, Hoon Kook, So Youn Kim, Hee Jo Back, Seok Joo Kim, Ha Young Noh, Mi Jeong Kim, Ic Sun Choi, Shin Jeong, Jong Hee Nam, Tai Ju Hwang
Clin Exp Pediatr. 2004;47(9):1008-1012.   Published online September 15, 2004
Isolated relapse of myeloid leukemia as a granulocytic sarcoma(GS) following allogeneic bone marrow transplantation(BMT) is very rare manifestation, and usually associated with a poor prognosis. We report a case of isolated intracranial GS in an infant with myelodysplastic syndrome(MDS) following unrelated BMT. A 7 month-old girl was diagnosed with refractory anemia with excess blasts (RAEB). During observation for a couple...
A Case of Asymptomatic 3-methylcrotonylglycinuria Detected by Tandem Mass Spectrometry in Newborn Screening
Jin Kyung Kim
Clin Exp Pediatr. 2004;47(8):912-916.   Published online August 15, 2004
3-Methylcrotonylglycinuria is an autosomal recessive inborn error of leucine catabolism that results from the deficiency of 3-methylcrotonyl-CoA carboxylase(3-MCC). In 3-MCC deficiency 3-methylcrotonyl-CoA, may form glycine and carnitine conjugates. The primary metabolites are 3-hydroxyisovaleric acid(3-HIVA), 3-hydroxyisovaleryl carnitine(3-HIVC) and 3-methylcrotonylglycine(3-MCG). 3-hydroxyisovaleric acid(3-HIVA) and 3-methylcrotonylglycine(3-MCG) are increased in urine, and 3-hydroxyisovaleryl carnitine(3-HIVC) is found in blood and urine. 3-MCC is one of the...
A Case of Biliary Atresia with Ileal Atresia
So Yeon Kim, Hyun Jung Na, Woo Taek Kim, Woo Hyun Park, Jin Kyung Kim
Clin Exp Pediatr. 2004;47(8):908-911.   Published online August 15, 2004
Biliary atresia is a progressive obliterative cholangiopathy. However, the actual causes remain unknown, although a number of factors such as developmental malformation, viral infection, toxicity of bile constituents, and anatomic abnormality in the hepatobiliary system have been considered. Recently, several studies have been done to find out specific gene expression. Some cases of biliary atresia are associated with anomalies of...
A Case of Kikuchi-Fujimoto Disease, Subsequently Evolving to Systemic Lupus Eyrthematosus
Soon Hwa Yoon, Myoung Hoon Song, Seon Hee Shin, Sung Koo Kim, Kon Hee Lee, Hae Sun Yoon, Young Ok Jung, Hye Kyung Ahn
Clin Exp Pediatr. 2004;47(8):904-907.   Published online August 15, 2004
Kikuchi-Fujimoto disease(KFD), also known as histiocytic necrotizing lymphadenitis, is a self-limited systemic illness and it has the pathognomonic histological appearance of lymph nodes. KFD is rarely associated with systemic lupus erythematosus (SLE). The diagnosis of KFD can precede, postdate or coincide with the diagnosis of SLE. Our case describes a young woman, originally diagnosed as having Kikuchi's disease by lymph...
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