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Case Report
A Case of Shwachman-Diamond Syndrome
Jeong Won Kwak, Suk Kim, Young Tak Lim
Clin Exp Pediatr. 2004;47(8):900-903.   Published online August 15, 2004
Shwachman-Diamond syndrome(SD syndrome) is a rare genetic disorder chracterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Exocrine pancreatic insufficiency and neutropenia are the main components of the syndrome. A hallmark of SD syndrome is varying severity of pancreatic dysfunction due to acinar maldevelopment. The hematologic abnormalities associated with SD syndrome include varying cytopenias, marrow aplasia, myelodysplasia...
A Case of Solitary Rectal Ulcer Syndrome
Won Ho Hahn, Eun Seong Kim, Hyo Jong Kim, Sung Ho Cha
Clin Exp Pediatr. 2004;47(8):896-899.   Published online August 15, 2004
Solitary rectal ulcer syndrome(SRUS) is a rare disorder in children. The incidence of SRUS is highest in young adults, and sex distribution is equal, or there may be a slight female predominance. There are few investigations about the exact incidences and effective treatment protocols of SRUS in children. The clinical symptoms and signs of SRUS are accompanied by rectal bleeding,...
Two Cases of Rotor Syndrome in Siblings
Hwa-Jin Park, Eun-Sung Kim, Ji-Young Chung, Sung-Ho Cha, Deog-Yoon Kim
Clin Exp Pediatr. 2004;47(8):892-895.   Published online August 15, 2004
Rotor syndrome is a rare benign familial disorder characterized by chronic, fluctuating, nonhemolytic and predominantly direct bilirubinemia with normal liver tissue. We have recently experienced two cases of Rotor syndrome in a brother and sister. They revealed icteric sclerae with mild hepatomegaly in physical examination. Laboratory findings showed increased serum bilirubin with direct bilirubin predominance. The urinary excretion of total...
Bronchiolitis Obliterans Associated with Stevens-Johnson Syndrome
Ko Un Chun, Soo Yun, Byung Ho Cha, Hae Yong Lee
Clin Exp Pediatr. 2004;47(7):803-806.   Published online July 15, 2004
Bronchiolitis Obliterans(BO) is one of the rare inflammatory lung disease that primarily affects bronchi and bronchioles, followed by partial or complete obstruction. In children, the etiology of BO has been under consideration, but infections and toxic inhalation, connective tissue diseases, lung transplantation, congestive pulmonary edema, etc., may be causes of BO. Even though steroid therapy was reported as an effective...
A Case of Hereditary C7 Deficiency Associated with Meningococcal Meningitis
Hyun Woo We, Won Duck Kim, Sun Ju Lee, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi, Gyoung Yim Ha
Clin Exp Pediatr. 2004;47(7):799-802.   Published online July 15, 2004
The complement system is composed of more than 25 different proteins and is usually divided into classical and alternative pathways. Complement component 7(C7) is one of the five terminal complement proteins that, upon activation of either the classical or the alternative pathway, interacts sequentially to form a large protein-protein complex, called membrane attack complex(MAC). Assembly of the MAC on target...
A Case of CATCH22 Syndrome with First Attack of Hypocalcemic Seizure at 13 Years of Age
Young Won An, Mi Jin Jung, Jee Suk Yu, Young Seok Lee, Han Wook Yoo
Clin Exp Pediatr. 2004;47(7):794-798.   Published online July 15, 2004
The acronym 'CATCH22' is characterized by many clinical manifestations such as cardiac defects, abnormal face, thymic and parathyroid hypoplasia, cleft palate and hypocalcaemia. It is now known to arise from chromosome 22q11.2 microdeletion, and it is also called 22q11.2 deletion syndrome. Hypocalcemia occurs in more than 50% cases of this syndrome, most frequently in neonatal periods, with some exceptions. Our...
A Case of Neonatal Hydrometrocolpos Accompanying Urinary Tract Obstruction
Kyoung Eun Lee, Ok Yeon Cho, Eun Jung Sim, Do Jun Cho, Dug Ha Kim, Ki Sik Min, Ki Yang Yoo, Guan Sup Lee
Clin Exp Pediatr. 2004;47(7):789-793.   Published online July 15, 2004
Neonatal hydrometrocolpos is the cystic dilatation of the vagina and uterus, which is caused by the combination of vaginal obstruction such as imperforate hymen, transverse vaginal septum, or vaginal atresia, and glandular secretion by maternal estrogenic stimulation. Although hydrometrocolpos is a rare congenital abnormality unlike pubertal hematocolpos, it is one of the relatively common abdominal masses in neonates. In typical...
A Case of Systemic Air Embolism in a Child after Thoracic Blunt Trauma
Hee Jin Cho, Hyun Ju Lee, In Sil Lee, Hae Joung Yang
Clin Exp Pediatr. 2004;47(6):701-703.   Published online June 15, 2004
Systemic air embolism occurs when air enters the pulmonary venous system as a result of a positive gradient caused by low pulmonary venous pressure or increased airway pressure, or both. Systemic air embolism has been frequently reported after penetrating thoracic trauma and can induce life-threatening complications. In blunt thoracic trauma, systemic air embolism has been rarely diagnosed. Because air embolism...
A Case of Actinomycotic Thyroiditis in a Child with Fourth Branchial Cleft Fistula
Hye Young Lee, Jeong Suk Yeom, Myoung Bum Choi, Ji Hyun Seo, Jae Young Lim, Chan Hoo Park, Hyang Ok Woo, Hee Sang Youn
Clin Exp Pediatr. 2004;47(6):696-700.   Published online June 15, 2004
Fistulas of the fourth branchial pouch have an external opening in the neck and the inner opening at the apex of the pyriform fossa. The tract passes from the left lobe of the thyroid, resulting in acute suppurative thyroiditis in most cases. Actinomycosis is an indolent, slowly progressive infection caused by anaerobic or microaerophilic gram-positive bacteria, primarily of the genus...
A Case of Resolution of Duodenal Obstruction Caused by Duodenal Ulcer after the Eradication of Helicobacter pylori Infection
Sung Ryoung Han, Wan Suk Choi, Ju Suk Lee
Clin Exp Pediatr. 2004;47(6):691-695.   Published online June 15, 2004
Duodenal ulcers are often complicated by obstruction, bleeding, or perforation. The eradication of Helicobacter pylori reduce ulcer recurrences and complications in patients with duodenal ulcer. However, there is controversy whether the eradication of H. pylori infection can resolve duodenal stenosis complicated by duodenal ulcers. After the eradication of H. pylori infection, duodenal stenosis complicated by duodenal ulcer was resolved in...
A Case of Tuberous Sclerosis associated with Abdominal Aneurysm
Eun Jeong Lee, So Jeong Yim, Sun Mi Kim, Dae Chul Jeong, Jin Han Kang, Seung Yun Chung
Clin Exp Pediatr. 2004;47(5):583-587.   Published online May 15, 2004
Tuberous sclerosis(TS) is known to be associated with multi-organ involvements, such as neurologic, renal and cardiac abnormalities. Abdominal aortic aneurysms in children and young adults are uncommon, however, some have been observed in patients with TS. We present an 8 month-old female patient with TS who developed aortic aneurysm and underwent successful surgical management. Since an aortic aneurysm is potentially...
A Case of Multiple Septic Arthritis by Streptococcus pneumoniae in Kawasaki Disease
Jae-Hoon Choe, In-Gyu Lee, Kyung-Bae Park, Joon-Soo Park, Young Chang Kim, Hwa-Yong Song, Byung-Heum Kim
Clin Exp Pediatr. 2004;47(5):579-582.   Published online May 15, 2004
In Kawasaki disease, arthritis may occur, generally affecting the hands, knees, ankles, or hips. Operations have not usually been needed. We report a case of Kawasaki Disease with multiple septic arthritis which was caused by S. pneumoniae and which needed athrotomy with drainage for both hips, both knees, and both ankle joints. A two year, ten-month-old girl was admitted to...
A Case of Vocal Cord Dysfunction
Jeoung A Her, Hee Kyoung Choi, Chang Hee Son, Young Min Ahn
Clin Exp Pediatr. 2004;47(5):574-578.   Published online May 15, 2004
Vocal cord dysfunction is a recently described entity in which paradoxical adduction of the vocal cords produces airflow obstruction at the level of the larynx. Recurrent wheezing results, which may imitate asthma. Inspiratory closure of the cords can also cause stridor, commonly misdiagnosed as an upper airway obstruction of undefined cause. The acute presentation is often dramatic and has led...
A Case of Henoch-Schönlein Purpura after Abdominal Blunt Trauma
Sang Eun Lee, Jung Kim, Cheol Hong Kim, Hwang Jae Yoo
Clin Exp Pediatr. 2004;47(4):465-469.   Published online April 15, 2004
Henoch-Schönlein purpura is the most common vasculitis in childhood and shows unique clinical features characteristic purpura, arthritis, abdominal pain, intestinal bleeding, nephritis and so forth by IgA mediated leukocytoclastic vasculitis. The etiology of Henoch-Schönlein purpura is unknown, but many variable causative factors are reported such as infection, drugs, vaccination, food, insect bite and so on. Henoch-Schönlein purpura precipitated by trauma...
Surgical Correction of Congenital Heart Disease In 18 Trisomy
Jinyoung Song, Yun Hee Moon, Ki Young Jang, Jae Young Lee, Soo Jin Kim, Woo Seup Shim, Woong Han Kim
Clin Exp Pediatr. 2004;47(4):462-464.   Published online April 15, 2004
18 trisomy(Edwards syndrome) is a fatal disease with a congenital heart anomaly. Patients usually receive less aggressive care because caregivers expect them to die very young. Although they have a very poor prognosis due to severe multi-organ dysfunction, symptomatic simple cardiac anomaly with left to right shunt can be repaired. We experienced a case of 18 trisomy with ventricular septal...
Neurofibromatosis Type 1 with Cerebellar Piloytic Astrocytoma
In-Sang Jeon, Jung Sun Kim, Ji Hye Kim, Na Rae Kim
Clin Exp Pediatr. 2004;47(4):458-461.   Published online April 15, 2004
Neurofibromatosis type 1(NF1) is one of the most common inherited disorders, clinically characterized by caf -au-lait spots, Lisch nodules and neurofibromas. In addition, the affected individuals usually develop benign and malignant tumors of the nervous system. One of the most common tumors is the optic nerve glioma. NF1-associated glioma, however, rarely occurs in the cerebellum. Recently, we experienced a NF1-associated...
A Case of Teratocarcinoma with Central Diabetes Insipidus
Jong Hoon Kim, In Seok Lim, Eung Sang Choi, Byoung Hoon Yoo
Clin Exp Pediatr. 2004;47(4):453-457.   Published online April 15, 2004
Central diabetes insipidus is a rare disorder that can result as a consequence of diverse etiologies, including malformations, autoimmune, infiltrative(e.g. neoplastic or histiocytosis) or traumatic processes, as well as mutations in the gene encoding arginine vasopressin. Idiopathic central diabetes insipidus is a diagnosis of exclusion, one that has been made less frequently through the decades. Idiopathic central diabetes insipidus in...
A Case of Meconium Peritonitis Accompanied with Hydrocele
Hoi Kyung Yoon, Ha Young Roh, Jin Hwa Kook, Young Youn Choi, Sang Young Chung
Clin Exp Pediatr. 2004;47(4):448-452.   Published online April 15, 2004
Meconium peritonitis is a rare disease in neonates, characterized by intraperitoneal calcification, numerous fibrosis with or without pseudocyst formation due to antenatal extravasation of meconium. Meconium peritonitis may result in a number of genital manifestations, including inguinal and scrotal or labial hydrocele containing meconium or calcifications. Recently, increased numbers of fetuses with meconium peritonitis have been prenatally diagnosed by ultrasonography....
A Case of Dieulafoy's Lesion in Duodenal Bulb
Jung Woo Rhim, Young Seok Kim, Jae Ock Park
Clin Exp Pediatr. 2004;47(3):343-346.   Published online March 15, 2004
Dieulafoy's lesion is an uncommon cause of recurrent massive gastrointestinal bleeding resulting from an abnormally large submucosal artery that protrudes through a small mucosal defect. Incidence of Dieulafoy's lesion as a source of upper gastrointestinal bleeding ranges from 0.3 to 6.7% in adults. But recently, the incidence is on an increasing trend by advanced endoscopic diagnostic technique. Lesions may occur...
Two Pediatric Patients with Neutropenia and Thrombocytopenia Associated with Parvovirus B19 Infection
Dong Koo Kim, Young Dai Kim, Ho Jun Lim, Sung Hee Oh, Hahng Lee
Clin Exp Pediatr. 2004;47(3):338-342.   Published online March 15, 2004
Parvovirus B19, a member of the Erythrovirus genus, is the only member of the Parvoviridae family known to be pathogenic in humans. Haematological consequences of B19 infection arise due to a direct cytotoxic effect on erythroid progenitors in bone marrow, resulting in interruption of erythrocyte production. The physiology of host haematopoiesis and competence of the immune response each determines clinical...
Three Cases of Hypercalcemia Due to Vitamin D Intoxication in Infancy
Jin-Ho Choi, Mi-Sun Yum, Hyewon Hahn, Young Seo Park
Clin Exp Pediatr. 2004;47(3):332-337.   Published online March 15, 2004
Hypercalcemia in infancy is an uncommon disorder but has a potential of serious sequelae. Therefore, infants with hypercalcemia must be promptly investigated and need urgent management. We report three cases of infantile hypercalcemia caused by vitamin D intoxication, emphasizing diagnostic investigations and the course of treatment. The first and the second cases were thought to be vitamin D intoxication without...
Angiotensin Converting Enzyme Inhibition Modulates Mitogen Activated Protein Kinase Family Expressions in the Neonatal Rat Kidney
Byung Min Choi, Mee-Hye Oh, Kee Hwan Yoo
Clin Exp Pediatr. 2004;47(3):325-331.   Published online March 15, 2004
Purpose : In a developing kidney, the renin-angiotensin system(RAS) is markedly activated and is thought to play an important role in postnatal renal growth and maturation. We previously demonstrated that angiotensin converting enzyme(ACE) inhibition in a developing rat kidney increases apoptosis and decreases its related gene expressions, which may account for renal growth impairment. Among the mitogen-activated protein kinases(MAPK) family...
A Case of Multiple Juvenile Xanthogranuloma Involving Skin and Systemic Organs
So Yeon Lee, Yong Seok Jang, Min Sun Kim, Yun Jeong Yang, Myoung Ja Jung, Pyoung Han Hwang
Clin Exp Pediatr. 2004;47(2):227-230.   Published online February 15, 2004
Juvenile xanthogranuloma(JXG) is one of the most common non-Langerhans cell histiocytosis, benign histiocytic proliferative disorder. It typically presents as a solitary, benign, rapidly growing cutaneous tumor that may regress spontaneously. Most cutaneous lesions of JXG occur in the head and neck region of infants and young children. This disease is usually present with cutaneous lesion only; visceral involvement including the...
A Case of Cutis Verticis Gyrata due to Cerebriform Intradermal Nevus in the Neonate
Hye Ryung Choi, Hyun Joo Lee, Eun Ae Park
Clin Exp Pediatr. 2004;47(2):223-226.   Published online February 15, 2004
Cutis verticis gyrata(CVG) is a morphologic syndrome of the scalp characterized by folds and furrows resembling the surface of brain. The primary form of cutis verticis gyrata is commonly associated with a neuropsychiatric condition and a secondary form occurs as a response of inflammatory or neoplastic process. The patient was a 1-day-old girl, who had a 15?1 cm sized, convoluted...
Atypical Hemolytic Uremic Syndrome Associated with Streptococcus pneumoniae Infection
Hyun Sug Lee, Ja Wook Koo, Sang Woo Kim, Hyun Soon Lee
Clin Exp Pediatr. 2004;47(2):217-222.   Published online February 15, 2004
Hemolytic uremic syndrome is the most common cause of acute renal failure in childhood. Atypical hemolytic uremic syndrome which is not usually associated with prodromal symptoms has a higher mortality rate and more tendency to progress to chronic renal failure. Children younger than two years of age are a more susceptible to pneumococcal infection and can develop more serious disease....
A Case of Systemic Sclerosis in a Child
Ji Yeon Chang, Ja Kyoung Kim, Jeong Hee Kim, Dae Hyun Lim, Byong Kwan Son, Jung Soo Song
Clin Exp Pediatr. 2004;47(2):214-216.   Published online February 15, 2004
Systemic sclerosis is a connective tissue disease involving primarily the skin and subcutaneous tissue but may involve other organ systems such as the lungs, gastrointestinal tract, and heart. Systemic sclerosis is a rare childhood disease. The age of onset for patients with systemic sclerosis has its peak between 30 and 50 years of age. Only 1 to 2% of all...
A Case of G-6-PD Guadalajara
Gi Bum Lee, Sun Ju Lee, Yoo Jung Kim, So Young Kim, Hyun Hee Kim, Bin Cho, Wonbae Lee
Clin Exp Pediatr. 2004;47(2):210-213.   Published online February 15, 2004
Glucose-6-phosphate dehydrogenase(G-6-PD) deficiency is a disease that shows hemolytic anemia and jaundice caused by injury of erythrocytes. The gene of G-6-PD has 13 exons and locates in Xq28, and over 150 mutations of this gene have been reported. We experienced a G-6-PD deficienct male patient who was suffering hemolytic anemia and jaundice confirmed by measuring low G-6-PD activity in the...
A Case of Tyrosinemia Type 1 with Cytomegalovirus Infection
Jin Hyung Cho, Kyu Jin Shim, Sung Koo Kim, Seon Hee Shin, Kon Hee Lee, Hae Sun Yun
Clin Exp Pediatr. 2004;47(1):111-114.   Published online January 15, 2004
Tyrosinemia type 1 is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation in the gene coding for the enzyme fumarylacetoacetate hydrolase(FAH). As a result, maleylacetoacetate(MAA) and fumarylacetoacetate(FAA) are formed. The accumulated FAA is converted into succinylacetone(SA) and succinylacetoacetate(SAA) which are excreted in urine. The first report with typical clinical and biochemical findings was presented by Sakai...
Four Cases of Staphylococcal Scalded Skin Syndrome
Chul Han Park, Yoo Jin Jeong, Won Jung Choi, Sat Byul Park, Heung Sik Kim, Chin Moo Kang
Clin Exp Pediatr. 2004;47(1):106-110.   Published online January 15, 2004
Staphylococcal scalded skin syndrome is a systemic disease with a clinical spectrum ranging from subcorneal pustules, patterned exfoliation to extensive erosion and peeling of skin by the exfoliative toxin of group II Staphylococcus aureus. This disease occurs mainly in infancy and children below five years and it isn't easy to differentiate from other vesicular diseases clinically, but skin biopsy shows...
A Case of 2-Methylbutyryl-CoA Dehydrogenase Deficiency
Moon Souk Lee, Ho Jin Park, In Kyu Lee, Kyuchul Choeh, Hye-Ran Yoon
Clin Exp Pediatr. 2004;47(1):100-105.   Published online January 15, 2004
We report a one-day-old Korean boy with 2-Methylbutyryl-CoA dehydrogenase(2-MBCDase) deficiency detected by urine organic acid and acylglycine analysis, plasma acylcarnitine analysis and confirmed by enzyme assay and Western blot. The patient was born at 35 weeks and three days with oligohydroamnios and premature rupture of membrane for 31 hours, as a second child of healthy non-consanguineous parents. There was no...
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