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Review Article
Update on infantile hemangioma
Hye Lim Jung
Clin Exp Pediatr. 2021;64(11):559-572.   Published online May 26, 2021
· Infantile hemangiomas (IHs) are the most common benign vascular tumors, occurring in 5%–10% of infants.
· IHs are characteristically not present at birth but are usually diagnosed at 1–4 weeks of age, rapidly proliferate until 5 months of age, and then spontaneously involute.
· High-risk IHs (10%) require early treatment from 1 month of age.
· Oral propranolol, a nonselective beta-blocker, is the first-line treatment for IHs.
Case Report
Neonatology (Perinatology)
Case of mucinous adenocarcinoma of the lung associated with congenital pulmonary airway malformation in a neonate
Juneyoug Koh, Euiseok Jung, Se Jin Jang, Dong Kwan Kim, Byong Sop Lee, Ki-Soo Kim, Ellen Ai-Rhan Kim
Clin Exp Pediatr. 2018;61(1):30-34.   Published online January 22, 2018

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation, is a rare developmental lung abnormality associated with rhabdomyosarcoma, pleuropulmonary blastoma, and mucinous adenocarcinoma of the lung. We report an unusual case of a 10-day-old male newborn with a left lower lobe pulmonary cyst who underwent lobectomy, which revealed type II CPAM complicated by multifocal mucinous adenocarcinoma. KRAS...

Review Article
Malformations of cortical development: genetic mechanisms and diagnostic approach
Jeehun Lee
Clin Exp Pediatr. 2017;60(1):1-9.   Published online January 31, 2017

Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact...

Case Report
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(Suppl 1):S152-S156.   Published online November 30, 2016

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive...

Type I Chiari malformation presenting orthostatic syncope who treated with decompressive surgery
Hyun-Seung Shin, Jeong A Kim, Dong-Seok Kim, Joon Soo Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S149-S151.   Published online November 30, 2016

Chiari malformations are a congenital anomaly of the hindbrain. The most common, Chiari malformation type I (CM-I), is characterized by herniation of the cerebellar tonsils extending at least 3 mm below the plane of the foramen magnum. Consequently, CM-I is associated with hydrocephalus and symptoms involving compression of the cervicomedullary junction by ectopic tonsils. Several studies have reported the clinical...

Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(6):280-284.   Published online June 30, 2016

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent...

A girl with sternal malformation/vascular dysplasia association
Na Yong Lee, Hye Kyung Cho, Kyung-Hyo Kim, Eun Ae Park
Clin Exp Pediatr. 2013;56(3):135-138.   Published online March 18, 2013

Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth,...

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 2010;53(6):718-721.   Published online June 23, 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell...

Original Article
Multicenter clinical study on birth weight and associated anomalies of single umbilical artery
Su-Nam Bae, Jae-Woo Lim, Kyong-Og Ko, Hyun-Seung Jin, Min-Hee Kim, Bo-Young Lee, Chun-Soo Kim, Eun-Ryoung Kim, Sang-Kee Park, Jung-Joo Lee
Clin Exp Pediatr. 2009;52(6):655-660.   Published online June 15, 2009
Purpose : To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. Methods : Live-born infants with SUA (n=59) detected by physical examination from among 15,193...
Case Report
Pulmonary arteriovenous malformation manifesting with perioral cyanosis and dyspnea on exertion: A case report
Yu Kyung Kim, Jin Woo Kim, Gun Lee, Man Yong Han
Clin Exp Pediatr. 2009;52(1):124-128.   Published online January 15, 2009
Pulmonary arteriovenous malformations (PAVMs) are direct communications between pulmonary arteries and pulmonary veins, resulting in right-to-left shunts that may cause cyanosis, dyspnea, and digital clubbing. Neurological complications such as intracerebral hemorrhage or brain abscess may result from cerebral thrombosis or emboli. In most cases, they remain unrecognized until the late teenage years. Here, we report a case of a 6-year-old...
Review Article
Pediatric cerebrovascular disease
Ji Hoon Phi, Kyu-Chang Wang, Byung-Kyu Cho, Seung-Ki Kim
Clin Exp Pediatr. 2008;51(12):1282-1289.   Published online December 15, 2008
Recently, accumulated clinical experience and advanced neuroradiological techniques have led to a better understanding of pediatric cerebrovascular disease (CVD), which was once considered rare. Approximately 10% of pediatric neurosurgical patients have CVD; therefore, it is no longer uncommon to pediatricians and pediatric neurosurgeons. Furthermore, children with CVD tend to recover better than adults after stroke because the immature brain is...
Case Report
A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene
Mee Rim Park, Jung Min Ko, Chong-Keun Cheon, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2008;51(11):1236-1240.   Published online November 15, 2008
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with...
A case of hereditary hemorrhagic telangiectasia
Young Seung Lee, Seonguk Kim, Eun Kyeong Kang, June Dong Park
Clin Exp Pediatr. 2007;50(10):1018-1023.   Published online October 15, 2007
Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary...
A case of multicystic dysplastic kidney and cystic adenomatoid malformation of the lung identified as incidental findings
Sun-Joo Lee, Ji-Hun Lee, Hyun-Hee Kim, So-Young Kim, Seung-Hoon Hahn, Ja-Young Hwang, Wonbae Lee
Clin Exp Pediatr. 2006;49(7):796-799.   Published online July 15, 2006
Multicystic dysplastic kidney and congenital cystic adenomatoid malformation of the lung are independent disorders, but both result from abnormal morphogenesis during embryogenesis. Congenital cystic adenomatoid malformation of the lung is associated with renal anomalies as well as other extrapulmonary anomalies and almost all cases with these anomalies are stillborn. We report a case of a 21-month-old male who was...
Original Article
The efficacy of ketogenic diet in childhood intractable epilepsy with malformation of cortical development
Young-Mock Lee, Du Cheol Kang, Da Eun Chung, Hoon Chul Kang, Heung Dong Kim
Clin Exp Pediatr. 2006;49(2):192-197.   Published online February 15, 2006
Purpose : Malformation of cortical development(MCD) constitutes an important etiology of intractable epilepsy and is considered an indication for surgical treatments, though their efficacy is limited and variable depending on MCD's location or distribution. Ketogenic diets are widely known to be effective, but as little study has been made concerning their efficacy on epilepsy with MCD, we evaluated the efficacy...
Experimental Study for the Teratogenic Effect of Gamma-ray on the Heart of Chick Embryo
Yong Whan Jo, Nam Su Kim, Sung Yup Moon, Myeng Gul Yum, Sung Hoon Kim, Ha Chung Chun, Yong Joo Kim, Hahng Lee
Clin Exp Pediatr. 2003;46(6):554-560.   Published online June 15, 2003
Purpose : To investigate the teratogenic effect of gamma-ray on the heart of chick embryo. Methods : 50 rad, 100 rad, 150 rad, 200 rad, 250 rad, and 300 rad of gamma-ray were used to irradiate three days old chick embryos. The control group was not irradiated. After three weeks, the embryos were sacrificed and examined for cardiovascular malformation. Results :...
Case Report
A Case of Transcatheter Coil Embolization of Diffuse Pulmonary Arteriovenous Malformation
Hye Kyung Lee, Gun Soo Han
Clin Exp Pediatr. 2001;44(9):1036-1040.   Published online September 15, 2001
This is a case report of multiple coil embolization for the diffuse pulmonary arteriovenous malformations( PAVM). PAVMs are direct communications between pulmonary arteries and pulmonary veins, resulting in an anatomic right-to-left shunt that may cause paradoxical embolization to may occur, resulting in neurologic complications such as stroke or cerebral abscess. The treatment of choice for solitary PAVMs was limited to surgical resection or ligation...
A Case of Crossed Branch Pulmonary Arteries in Dandy-Walker Malformation
Seonyoung Kim, Dongchul Park
Clin Exp Pediatr. 2001;44(7):827-831.   Published online July 15, 2001
Crossed pulmonary arteries is an uncommon anomaly in which the ostium of the left pulmonary artery originates superiorly and to the right of the right pulmonary artery. The pulmonary arteries then cross each other and supply their respective lungs. The recognition of this rare anomaly is important because of its association with significant cardiac and extracardiac congenital abnormalities. These congenital...
A Case of Fryns Syndrome
Jun Ho Kim, Jin Hwa Jeong, Sung Min Cho
Clin Exp Pediatr. 2000;43(9):1269-1273.   Published online September 15, 2000
Fryns syndrome is a lethal syndrome of multiple congenital anomalies first described by Fryns et al in 1979. A recently developed major diagnostic criteria includes abnormal face, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, lung hypoplasia with diaphragmatic hernia, central nervous system anomalies and congenital heart disease. The pathogenesis of Fryns syndrome is not clear....
A Case of Myositis Ossificans Progressiva
So Young Park, Su Jin Lee, Ji A Chung, Seung Joo Lee
Clin Exp Pediatr. 1998;41(11):1601-1605.   Published online November 15, 1998
Myositis ossificans progressiva(MOP) is a rare, slow progressive autosomal dominant disorder that principally affects children under the age 10 years. It is characterized by progressive fibroblastic proliferation, and subsequent calcification and ossification of subcutaneous fat, muscles, tendons, aponeuroses and ligaments. The disorder is often associated with symmetrical malformations of the digits, especially microdactyly or adactyly of the thumbs and great...
Original Article
A Clinical Study of Single Umbilical Artery
Mi Yeon Choi, Young Jun Kim, Young Ah Lee, Ha Joo Choi, Woo Kap Chung, Keun Young Lee
Clin Exp Pediatr. 1998;41(4):498-504.   Published online April 15, 1998
Purpose : Single umbilical artery(SUA), the most common malformation of the umbilical cord, has long been of interest because of its association with congenital malformations. This retrospective study was aimed to evaluate the incidence of SUA and its associated malformations. Method : The study population was inborn neonates of Kang-Nam Sacred Heart Hospital of Hallym University. We reviewed retrospectively the medical records of 15...
Case Report
A Case of Arteriovenous Malformation of Cecum in a Infant
Jung-Eun Lee, Je Woo Kim, Ki Sup Chung, Eui Ho Hwang, Jong In Yook
Clin Exp Pediatr. 1997;40(2):274-278.   Published online February 15, 1997
Arteriovenous malformation in the gastrointestinal tract is very rare in children. However, when present they are frequently a source of either acute and massive, or chronic occult hemorrhage, and may be difficult to diagnosis. In reviewing Korean literature, only 2 cases has been reported in adults. We have experienced a rare case of arteriovenous malformation in a 1 year and 10 month-old female...
A Case of Spinal Epidural Hematoma due to Arteriovenous Malformation
Yoon Hee Lee, Se Wook Oh, Sang Woo Kim, Yi Kyeong Chun
Clin Exp Pediatr. 1996;39(3):436-440.   Published online March 15, 1996
Spinal epidural hematoma results from various causes such as use of anticoagulants, hemorrhagic diathesis, pregnancy, labor, arteriovenous malformation and spinal anesthesia as well as idiopathic orgin. We report a 3-year-old boy who was found to have spinal epidural hematoma and presented with lower back pain and fever. He developed paraplegia of lower legs after two consecutive lumbar punctures during two days....
Original Article
Etretinate Induced Cardiovascular Malformations in Mouse Embryo
Il Kyung Kim, Chang Sung Son, Young Chang Dockgo, Yong Hyuk Jeon
Clin Exp Pediatr. 1995;38(10):1370-1377.   Published online October 15, 1995
Purpose : Etretinate(Tigason? is an aromatic retinoid currently in therapeutic use for psoriasis but studies have shown that it is a potent teratogen in human and in experimental animal. So we carried this study to observe teratogenic effects of etretinate and to search a possibility of etretinate for using as an experimental model to induce cardiovascular malformation. Methods : In order...
Case Report
Two Cases of Arnold-Chiari Malformation type II
Woo-Ki Lee, Hyui-Sung Chang, Seok-Kyu Lee, Ewng-Won Park, Kwang-Woo Kim
Clin Exp Pediatr. 1993;36(2):287-291.   Published online February 15, 1993
Arnold-Chirai malformation type II is congenital disorder which consists of downward displacement into upper cervical spinal canal of parts of the cerebellum, 4th ventricle, and medulla oblongata. We experienced two cases of Arnold-Chiari malformation with lumbar meningomyelocele, hydrocephalus. We confirmed the cases by brain C-T and report with brieft review of the lilterature.
Agenesis of Corpus Callosum-Two Cases Report
Soo Young Kweon, Jeoung Wean Seo, Gyung Hee Kim, Eun Chul Chung, Hea Soo Koo
Clin Exp Pediatr. 1992;35(1):113-121.   Published online January 15, 1992
Agenesis of corpus callosum is a relatively comon malformation that may occur in isolation or in combination with other cerebral malformations. A male newborn who presented generalized convulsion showed agenesis of the corpus callosum and septum pellusidum, gyral malformation, and diffuse leukomalacia on postmortem examinations. Also a female newborn with a cystic lesion in brain by antenatal neurosonography showed partial...
Original Article
Congenital cystic diseases of the lung.
Won Soon Park, Young Pyo Chang, Hee Ju Kim, Young Yull Koh, Jung Hwan Choi, Chong Ku Yun, Joo Hyun Kim
Clin Exp Pediatr. 1991;34(12):1671-1677.   Published online December 31, 1991
Congenital cystic diseases of the lung (CCDL) is a clinical group of disorders characterized by a cystic appearance of pulmonary tissue. It can be classified into four distinct categories: 1) Congenital lobar emphysema (CLE), 2) Congenital cystic adenomatoid malformation (CCAM), 3) Pulmonary sequeestration (PS), and ^Bronchogenic cyst (BC). 24 patients with CCDL admitted to the Seoul National University Children’s Hospital from January 1984 to June...
A Case of Congenital Cystic Adenomatoid Malformation (Type1) of the Lung.
Dong Sik Kim, Hwang Min Kim, Jae Seung Yang, Baek Keun Kim, Jong Soo Kim, Dong Hwan Shin
Clin Exp Pediatr. 1990;33(6):830-834.   Published online June 30, 1990
A rare form of congenital cystic lung disease, characterized by the presence of one or usually multiple interconnecting cyst, is called congenital cystic adenomatoid malformation of the lung. This disease almost invariably presents either in live premature or stillborn infants, and death in those infants bom alive usually occurs within a few hours of birth. Infants with congenital cystic adenomatoid malformation usually have tachypnea,...
A Case of Congenital Cysitic Adenomatoid Malformation of Lung.
Youe Kawn Kim, Deuk Hwan Jun, Bae Young Kim, Won Il Park, Kyung Ja Lee
Clin Exp Pediatr. 1990;33(2):225-228.   Published online February 28, 1990
Congenital cystic adenomatoid malformation is a rare variant of pulmonary cystic disease char- acterized by a mass of cysts lined by proliferating bronchial or cuboidal epithelium. The onset of symptoms, which are cyanosis, and tachypnea, usually occurs during the first week of life. We have experienced a case of congenital cystic adenomatoid malformation in a 9 month-old female. The diagnosis was mady by chest...
A case of Evans Syndrome Associated with A-V Malformation.
Keun Haeng Cho, Min Young Lee, Kwang Chul Lee, Young Sook Hong, Soon Kyum Kim
Clin Exp Pediatr. 1989;32(6):839-844.   Published online June 30, 1989
In 1951, Evans and associates first described a group of patients with primary thrombocytopenic purpura for a diagnosis of Evans syndrome, The criteria for a diagnosis of Evans syndrome were(l) hemolytic anemia with a positive direct coombs’ test and thrombocytopenia occuring either simultaneously or in succession and(2) the absence of any known underlying etiology. We experienced a case of Evans syndrome associated with...
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