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Case Report
A Case of Intestinal Tuberculosis Concurring with Endobronchial and Laryngeal Tuberculosis
Su Jin Kim, Su Eun Park, Min Gi Lee, Gun Il Kim, Chang Hun Lee, Jae Hong Park
Clin Exp Pediatr. 2003;46(7):714-717.   Published online July 15, 2003
Although the incidence of tuberculosis has been reduced recently because of the advance of anti-tuberculosis chemotherapy, improvements of public health, and early diagnosis, it is still high in developing countries. Intestinal tuberculosis can occur at any age, but young adults and female are more affected. Early diagnosis of childhood intestinal tuberculosis is difficult, largely because of vague symptoms and nonspecific...
A Case of Cystinosis
Min Ho Jung, Seung On Keun, Soon Ju Lee, Byung Churl Lee
Clin Exp Pediatr. 2003;46(6):615-619.   Published online June 15, 2003
Cystinosis, an autosomal recessively inherited lysosomal storage disease, results from impaired transport of the amino acid cystine out of cellular lysosomes. The consequent accumulation and crystallization of cystine destroys tissues, causing growth retardation, Fanconi syndrome, renal failure, eye problems, and endocrinopathies. The gene for cystinosis, CTNS, was mapped to chromosome 17p13. The diagnosis of cystinosis was made by measuring the...
Stenosis of Individual Pulmonary Veins
Mira Lee, Kil Soon Choi, Nam Su Kim, Myung Kul Yum, Yong Joo Kim, In Jun Sul
Clin Exp Pediatr. 2003;46(6):610-614.   Published online June 15, 2003
Pulmonary hypertension may be associated with variable conditions such as the hyperkinetic state or pulmonary vascular obstruction. In these, stenosis of the individual pulmonary veins without any cardiac or vascular malformation is very rare. We experienced stenosis of individual pulmonary veins in a 10 months old boy who was admitted with recurrent dyspnea and cyanosis and then underwent angiogram and...
A Case of Goltz Syndrome
Dong Hoon Lee, Chul Han Park, Ji Min Park, Set Byul Park, Heung Sik Kim, Young Wook Ryoo, Kyu Suk Lee, Hee Jung Lee
Clin Exp Pediatr. 2003;46(6):606-609.   Published online June 15, 2003
Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida...
A Case of Scrotal Abscess Associated with Gastroenteritis and Sepsis due to Salmonella Group D in a One Month Old Infant
You Sun Choi, Yoon Suk Jung, Sun Il Kim, Sung Hee Oh
Clin Exp Pediatr. 2003;46(6):602-605.   Published online June 15, 2003
Acute gastroenteritis due to Salmonella species, which usually improves on conservative treatment, can progress to sepsis and extraintestinal focal infection in very young infants. Frequent sites for extraintestinal infections are meninges, bone, joints, spleen and intravascular sites but scrotal abscess due to salmonella in children has been very rare. Literature search revealed only one newborn case of scrotal abscess with...
A Case of Trisomy 9 Mosaicism
Young Ok Kim, Chun Hak Park, Ic Sun Choi, Hyun Jung Kim, Chang Yee Cho, Young Youn Choi
Clin Exp Pediatr. 2003;46(6):597-601.   Published online June 15, 2003
Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter,...
A Case of Partial Inverted Duplication of Chromosome 7q
Hyun Ji Kim, So Young Lee, Mi Young Kim, Chung Sun Baek, Won Duck Kim, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi
Clin Exp Pediatr. 2003;46(5):510-513.   Published online May 15, 2003
Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long...
A Case of Lesch-Nyhan Syndrome
Joon-Sung Kim, Jae-Seung Lee, Ha-Young Noh, Byung-Ju Kim, Young-Jong Woo, Jee-Min Park, Myung-Gwan Kim, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2003;46(5):505-509.   Published online May 15, 2003
Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic...
Five Cases of Shaken Baby Syndrome
Ok Yeon Cho, Kwon Hoe Huh, Do Jun Cho, Dug Ha Kim, Ki Sik Min, Ki Yang Yoo, Yul Lee
Clin Exp Pediatr. 2003;46(4):404-408.   Published online April 15, 2003
Shaken baby syndrome is a serious form of child abuse, mostly involving children younger than 2 years. It results from extreme rotational cranial acceleration induced by violent shaking. The characteristic injuries include subdural hemorrhage, retinal hemorrhage, and fracture of ribs or long bones. If physicians have no recognition of, or suspicion about, shaken baby syndrome, this syndome is difficult to...
A Case of True Precocious Puberty Complicating Congenital Adrenal Hyperplasia
Su Jin Kim, Ju Suk Lee, Su Yung Kim
Clin Exp Pediatr. 2003;46(4):400-403.   Published online April 15, 2003
Congenital adrenal hyperplasia(CAH) is a recognized cause of precocious pseudopuberty. Some children with CAH also develop true precocious puberty with early maturation of the hypothalamic-pituitary-gonadal axis. We review a case of CAH who eventually developed central precocious puberty nine months after initial treatment with corticosteroid. A 3-year-old boy visited complaining of rapid growth, a large penis and frequent penile erections....
Monosomy 21 Mosaicism in a Child with Dyserythropoiesis
Jae-Young Lim, Ji-Hyoun Seo, Myoung-Bum Choi, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2003;46(4):397-399.   Published online April 15, 2003
All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating genetic disorder. Partial monosomy 21 is also rare and is thought to constitute a clinical syndrome consisting of peculiar faces, hypertonia, psychomotor retardation, and slow growth. We experienced a case...
A Case of Ileal Atresia with Hypertrophic Pyloric Stenosis
Byung Chan Lim, Jung Ha Lee, Kwang Sig Kim, Guk Myung Choi, Kyung Sue Shin, Jung Yun Hong, Youn Woo Kim
Clin Exp Pediatr. 2003;46(4):393-396.   Published online April 15, 2003
Ileal atresia, a subtype of intestinal atresia, is one of the well-recognized causes of bowel obstruction in newborns. Prenatal diagnosis of intestinal atresia is very important in its management and outcome. Unfortunately, there are few cases of ileal atresia diagnosed prenatally, so more appropriate diagnoses and management plans are needed. As an associated gastrointestinal malformation with ileal atresia, hypertrophic pyloric...
A Case of Netherton's Syndrome in a Newborn
Eun-Hee Lee, Ellen Ai-Rhan Kim, Ki-Soo Kim, Beom-Jin Cho, Jai-Kyoung Koh, Soo-Young Pi
Clin Exp Pediatr. 2003;46(4):389-392.   Published online April 15, 2003
Netherton's syndrome is an unusual disorder which consists of triad of ichtyosiform dermatosis, multiple defects of hair shaft and an atopic diathesis. The finding of bamboo hair is pathognomic in Netherton's syndrome and the ichthyosiform dermatosis may consist of either ichtyosis linearis circumflexa or congenital ichthyosiform erythroderma. Often, variability in the clinical features leads to a delay in diagnosis in...
A Case of Coil Embolization in a 15-year-old Child with Pulmonary Sequestration
Hyo Bin Kim, Ja Hyung Kim, Jong Seung Lee, Soo-Jong Hong, Gyou Bo Sung
Clin Exp Pediatr. 2003;46(4):385-388.   Published online April 15, 2003
Pulmonary sequestration is a rare congenital mass of nonfunctional pulmonary tissue that lacks a normal-connection with the bronchial tree or the pulmonary arteries. It is clinically asymptomatic but when it is complicated with recurrent infection, it needs to be treated. Conventionally, surgical removal was recommended, but these days we are trying new and less invasive techniques, such as arterial embolization....
A Case of Townes-Brocks Syndrome
Hong Seop So, Hyun Ju Choi, Hye Sun Yoon, Jin Soon Hwang, Keun Chan Sohn
Clin Exp Pediatr. 2003;46(4):382-384.   Published online April 15, 2003
Townes-Brocks syndrome is an uncommon autosomal dominant condition first described by Townes and Brocks in 1972. We experienced a newborn female who presented with clinical findings of Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including anterior placed anus, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, microtia without opening, sensorineural hearing loss and unilateral...
A Case of Congenital Chloride Diarrhea in Premature Infant
Sung Kwan Yoon, Eun Young Kim, Kyung Rye Moon, Sang Kee Park
Clin Exp Pediatr. 2003;46(3):308-311.   Published online March 15, 2003
Congenital chloride diarrhea is a serious autosomal recessive disease, and defect of intestinal electrolyte absorption that involves, specifically, Cl－/HCO3－ exchange in the distal part of the ileum and colon. The clinical feature is dominated by profuse, watery diarrhea containing high concentrations of chloride(>90 mmol/L) and sodium. The chloride loss results in severe dehydration with a hypochloremic alkalosis. The molecular pathology...
Thrombolytic Therapy and Long Term Follow-up Study in a Child with Kawasaki Disease Complicated by Giant Coronary Aneurysm with Thrombosis
Su Jung Moon, Su Ya Lee, Kyong Hee Na, Sun Young Park, Eun Young Kim, Kyoung Sim Kim, Yong Wook Kim
Clin Exp Pediatr. 2003;46(3):302-307.   Published online March 15, 2003
The long-term clinical issues in Kawasaki disease are concerned with the coronary artery lesions that result in aneurysmal formation, thrombotic occlusion, progression to ischemic heart disease, and premature atherosclerosis. We here report a 3 month old infant with Kawasaki disease complicated by giant coronary aneurysm with thrombosis. After urokinase(10,000 IU/kg) and heparin(400 IU/kg) were injected for two days as thrombolytic...
A Case of Glutaric Aciduria Type I with Macrocephaly
Woo Jong Shin, Yeo Ok Moon, Hye Ran Yoon, Eun Sil Dong, Young Min Ahn
Clin Exp Pediatr. 2003;46(3):295-301.   Published online March 15, 2003
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine...
A Case of Ring Chromosome 21 with Multiple Congenital Anomalies
Jun-Hwa Lee, Eul-Ju Seo
Clin Exp Pediatr. 2003;46(3):291-294.   Published online March 15, 2003
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate,...
A Case of Kawasaki Disease Associated with Acute Renal Failure and Necrotizing Myositis
So Hyun Ahn, So Yun Shim, Sejung Sohn, Seung Joo Lee, Un Seop Han
Clin Exp Pediatr. 2003;46(2):207-209.   Published online February 15, 2003
Kawasaki disease is an acute febrile vasculitis affecting primarily infants and young children. In addition to the cardiovascular involvement, it may cause inflammatory changes in various organs and body systems : digestive, respiratory, urinary, nervous and musculoskeletal. A case is reported of atypical Kawasaki disease associated with acute renal failure and necrotizing myositis in the right gastrocnemius in a 10-year-old...
Two Cases of Castlema's Disease in Childern
Eun Ah Kim, Chong Guk Lee, Han Sung Kim
Clin Exp Pediatr. 2003;46(2):203-206.   Published online February 15, 2003
Castleman's disease is an atypical lymphoproliferative disorder of unknown origin. It has three histologic variants(hyaline vascular, plasma-cell, and mixed) and two clinical types(localized and multicentric). Some sufferers have constitutionalg symptoms and laboratory abnormalities such as anemia, hypoalbuminemia, hypergammaglobulinemia, and elevated erythrocyte sedimentation rate. The localized form is cured by complete surgical excision whereas the multicentric form is managed by prednisone...
Two Cases of Inhalation Injury Caused by An Explosion of Two Different Chemical Disinfectants(Sodium Dichloroiso Cyanurate & Calcium Hypochlorite) in a Swimming Pool
Su Jin Lee, Eun Young Park, Mi Ran Kim, Kon Hee Lee, Kwang Nam Kim
Clin Exp Pediatr. 2003;46(2):198-202.   Published online February 15, 2003
Of all toxic inhalant exposures, chlorine is one of the most common toxic chemical inhalants. When acutely inhaled, it can be responsible for symptoms ranging from upper air way irritation to more serious respiratory effects. It can also deteriorate lung function and lead to death. Chlorine and its compounds such as chlorinated cyanurates and hypochlorites are commonly used in water...
Familial Sick Sinus Syndrome
In-Hye Nam, Sung-Hee Cheon, Hong-Ryang Kil
Clin Exp Pediatr. 2003;46(2):195-197.   Published online February 15, 2003
Sick sinus syndrome(SSS) constitutes a spectrum of cardiac arrhythmia, including sinus bradycardia, sinus pause-arrest, sinoatrial block, slow escape rhythm, bradyarrhythmia and tachyarrhythmia. SSS is relatively uncommon in children but its exact incidence is unknown because diagnostic criteria are not uniform and most children with SSS, in general are asymptomatic. SSS may be primary(organic sinus node disease) or secondary(cardiac surgery comprises...
A Case of Neonatal Tetanus Cured with Neuromuscular Blocking Agent and Ventilatory Support
Hyeon Joo Lee, Ji Young Jeong, Sa Jun Jung, Yong Mook Choi, Chong Woo Bae
Clin Exp Pediatr. 2003;46(2):192-194.   Published online February 15, 2003
A neonate born at 38 gestational weeks was admitted due to generalized tonic-clonic seizure and cyanosis. The neonate was born six days previously at home through normal delivery and the umbilical cord was cut using scissors sterilized in boiling water. The neonate weighed 3,180 g at admission. Physical examination revealed cyanosis, opisthotonus, trismus and reactive muscle spasms. Laboratory exam, brain...
Analysis of Affecting Factors for Cortisol Level in Cord Blood
Eun Jung Kim, Chang Yoo Lee, Yeon Gyun Oh, Hyang Suk Yun, Jong Duck Kim
Clin Exp Pediatr. 2003;46(2):188-191.   Published online February 15, 2003
Tsutsugamushi fever is a serious febrile disease outwardly similar to malaria and various arboviral infections. The endemic area is Asia-Pacific. This disease are generally associated with disturbed habitats favoring large populations of vector larval trombiculid mites. Therapy with tetracycline, chloramphenicol or ciprofloxacin is currently recommanded. Unfortunately these drugs is suboptimal for children and pregnant women. Recently, azithromycin has been proven...
A Case of Krabbe Disease with Infantile Spasm
Ja Kyoung Kim, Dal Hyun Kim, Bo Young Kang, Young Se Kwon, Young Jin Hong, Byong Kwan Son, Hye Ran Yoon
Clin Exp Pediatr. 2003;46(1):95-99.   Published online January 15, 2003
Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe...
A Case of Raine Syndrome
Hye Jin Park, Jeong Jin Lee, Jeong Sik Seo, Hyo Jin Kim, Je Yong Choi, Jun Hwa Lee, Un Seok Nho, Hai Lee Chung, Woo Taek Kim
Clin Exp Pediatr. 2003;46(1):91-94.   Published online January 15, 2003
Raine syndrome was described as an unknown syndrome in 1989. It is characterized by severe craniofacial anomalies with microcephaly, hypoplastic nose, depressed nasal bridge, exophthamos/protosis, gum hypertrophy, cleft palate, low-set ears, small mandible, narrow chest, wide cranial sutures and choanal atresia or stenosis, by generalized osteosclerosis with subperiosteal thickening of ribs, clavicles and diaphysis of long bones, and by intracranial...
A Case of Moyamoya Disease in a Child with Alagille Syndrome
Mi Rang Lim, So Yaun Lee, Deok Soo Kim, Kyung Mo Kim, Tae Sung Ko
Clin Exp Pediatr. 2003;46(1):86-90.   Published online January 15, 2003
Alagille syndrome is a autosomal dominant disorder characterized by intrahepatic bile duct paucity and resultant chronic cholestasis in combination with cardiac(mainly peripheral pulmonary stenosis), skeletal, ocular, and facial abnormalities. In addition to the pulmonary stenosis, in large series, anecdotal reports of vascular lesions have concerned the renal artery, aorta, hepatic artery, carotid artery, celiac artery or subclavian artery. Theses diffuse...
6p23 Deletion Syndrome : Report of a Case in a Preterm Baby
Hyeon-Soo Lee
Clin Exp Pediatr. 2003;46(1):83-85.   Published online January 15, 2003
Deletion of the short arm of chromosome 6 is relatively rare, with the characteristic features of craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities. Here author reports a premature girl with bilateral anophthalmia, bilateral hydrocephalus and marked hypotonia, whose chromosome analysis revealed a 46, XX, del(6)(p23) chromosome constitution.
A Case of Cerebral Vasculitis in Henoch-Shonlein Purpura
Soo Yeon Lee, Ju Mi Choung, Dong Jin Hwang, So Hee Eun, Pyoung Han Hwang
Clin Exp Pediatr. 2002;45(12):1601-1605.   Published online December 15, 2002
Henoch-Sh nlein Purpura(HSP) is an immuologically mediated systemic vasculitis of small blood vessels affecting predominantly the skin, gastrointestinal tract, joints, and kidneys. Clinical neurological manifestations such as headaches, behavioral changes, mental changes, seizures, and visual loss are described, but neurological complication are rare during the course of HSP. We experienced a case of an 8 year-old male with HSP who...
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