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Case Report
A Case of Trisomy 22 with Pulmonary Hypoplasia in a Liveborn Infant
Myoung-Bum Choi, Ki Su Kang, Chan-Hoo Park, Hyang-Ok Woo, Jeong-Hee Lee, Jae-Ik Lee, Won Young Paik, Hee-Shang Youn
Clin Exp Pediatr. 2002;45(6):804-808.   Published online June 15, 2002
We report a case of trisomy 22 in a liveborn male infant which was confirmed by fluorescence in situ hybridization(FISH), macrocultures and GTG-banding, and RHA-banding procedures of peripheral white blood cells. The infant showed lung hypoplasia, which is a unique presentation, with other clinical manifestations of previously reported cases of trisomy 22, such as intrauterine growth retardation, cleft palate, micrognathia,...
A Case of Phthiriasis Palpebrarum in the Eyelids of a Child
Jong Hyuck Lee, Sang Hoon Rah, Yoon Hee Kim, Won Seok Song
Clin Exp Pediatr. 2002;45(6):800-803.   Published online June 15, 2002
A two year old male child complained of foreign body sensations bilaterally, and an itching sensation at both upper and lower eyelids for 2 months of duration. He was diagnosed with Phthiriasis palpebrarum after observation of adult louse and nits on slit-lamp examination. The treatment was accomplished by mechanical removal of the lices and nits by forceps and scissors, and...
A Case of Thyroxine Binding Globulin Deficiency with Hypothyroidism
Dong-Chul Lee, Sun-Hee Lee, Jae-Hong Yu
Clin Exp Pediatr. 2002;45(6):796-799.   Published online June 15, 2002
A child diagnosed with congenital hypothyroidism after newborn screening and follow up thyroid function test at 1 month of life in another general hospital demonstrated euthyroid state with thyroxine(T4) supplementation until the age of 22 months of life, when he was transferred to our hospital, where he was diagnosed as thyroxine binding globulin(TBG) deficiency with low T4 and TBG. Withdrawal...
A Case of Hypernatremic Dehydration in an Exclusively Breast-Fed Newborn Infant
Kyung Pil Park, Jin Kyung Kim, Heng Mi Kim
Clin Exp Pediatr. 2002;45(6):790-795.   Published online June 15, 2002
Sporadic reports of hypernatremic dehydration in breastfed newborn infants have appeared in medical literature for at least 3 decades. We report the first case of hypernatremic dehydration resulting from inadequate breast-feeding in Korea. A 14-day old baby, born to a mentally retarded mother, was transferred to our hospital with a body weight loss of 460 g since birth(17%) and a...
A Case of Cerebral Infarction Complicated by Mycoplasma pneumoniae Pneumonia
Kyoung Whoon Cheon, Won Sik Kang, Byeong Hee Son, Sung Won Kim
Clin Exp Pediatr. 2002;45(5):673-678.   Published online May 15, 2002
Mycoplasma pneumoniae is the most common pathogen of the respiratory tract among school- aged children and young adults. The incidence of CNS complication is reported as 0.1-7% of Mycoplasma pneumoniae infections. We experienced a case of cerebral infarction complicated by Mycoplasma pneumoniae, and reviewed the literature about the CNS complication of Mycoplasma pneumoniae infection.
A Case of Respiratory Difficulty Due to Congenital Tracheal Calcification and Nasal Pyriform Aperture Stenosis
Kyu Tae Kim, Young Mi Kim, Su Eun Park, Jae Hong Park, Hawn Jung Noh, Hak Jin Kim
Clin Exp Pediatr. 2002;45(5):669-672.   Published online May 15, 2002
Nasal obstruction is a cause of respiratory distress in newborns. The congenital nasal airway obstructive abnormalities are classified into three forms according to the location: posterior choanal atresia, nasal cavity stenosis and congenital nasal pyriform aperture stenosis(CNPAS). CNPAS is located at the anterior part of the nasal fossa. CT is the study of choice to make the diagnosis of CNPAS...
Hemophagocytic Syndrome with Kawasaki Disease and Peripheral Gangrene
Hwa Jun Yun, Ko Woon Jeon, Hwang Min Kim, Seok Won Park, Young Uh
Clin Exp Pediatr. 2002;45(5):664-668.   Published online May 15, 2002
A twenty six months-old boy developed hemophagocytic syndrome during the course of Kawasaki disease. Despite the appropriate treatment modalities for Kawasaki disease, he developed thrombocytopenia, hepatomegaly, high-grade fever, hypertriglyceridemia, peripheral gangrene, and evidence of hemophagocytosis in bone marrow biopsy. Although the course was stormy, he responded well to a combination therapy of corticosteroid and etoposide.
A Case of Dominantly Inherited β Thalassemia Due to Hb Dieppe
You Kyoung Choi, Hong Jin Lee, Won Il Park, Kyung Ja Lee, Sung Ha Kang, Ji Yeon Kim, Sung Sup Park
Clin Exp Pediatr. 2002;45(5):659-663.   Published online May 15, 2002
β thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of β thalassemia have been identified in individuals who have inherited a single copy of an abnormal β globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) A2 and Hb F levels. In particular, there...
A Case of Rett Syndrome with MECP2 Gene Mutation
Jin Kyung Kim, Chang Seok Ki, Jong Won Kim
Clin Exp Pediatr. 2002;45(4):540-544.   Published online April 15, 2002
Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by...
A Case of Incontinentia Pigmenti with Developmental Brain Malformation
Suk Ho Kang, Soon Kim, Seung Hee Jung, Sang Geel Lee
Clin Exp Pediatr. 2002;45(4):535-539.   Published online April 15, 2002
Incontinentia pigmenti is a rare neurocutaneous syndrome characterized by vesiculobullous skin disease in neonates and infants, a noninfectious disease that should be distinguished from infectious diseases with the neonatal seizure or encephalopathy. This disease is X-linked dominant with Xq28 region abnormalities and often associated with developmental defects of the ocular, skeletal, dental, and central nervous system. Central nervous system involvement...
A Case of Nonspecific Interstitial Pneumonia in a Child
Tae Wan Kim, Dae-Hyun Lym, Jung Hee Kim, Byong Kwan Son, Hye-Seung Han, Young Kyu Shin
Clin Exp Pediatr. 2002;45(4):529-534.   Published online April 15, 2002
Department of Pediatrics†, College of Medicine, Korea University, Seoul, Korea Interstitial pneumonia is a heterogenous group of inflammatory and fibrosing lesions that manifest themselves as infiltrative lung disease. Of these, nonspecific interstitial pneumonia is characterized as a variable degree of interstitial inflammation with or without fibrosis and is distinguished from usual interstitial pneumonia and desquamative interstitial pneumonia, histologically. The influx of...
A Case of Citrullinemia Diagnosed at the Neonatal Period
Seung Kyu Song, Kyung Chang Oh, Mi Ae Hong, Hee Taeg Kim, Hye Jung Shin, Soon Young Kim, Jin Keun Chang, Heui Seung Jo, Beyong Il Kim, Sei Won Yang, Jung-Hwan Choi
Clin Exp Pediatr. 2002;45(4):524-528.   Published online April 15, 2002
Citrullinemia is a rare inborn error of metabolism of the urea cycle, and was first reported by McMurray, et al. in 1962. It is inherited as an autosomal recessive trait. The normal synthesis of argininosuccinic acid is blocked in this disease due to a deficiency of argininosuccinic acid synthetase(AS), which has been demonstrated in liver cells and fibroblasts. The clinical...
Two Cases of Gitelman's Syndrome Diagnosed by Renal Clearance Study
Tae Hwa Kim, Seung Jun Kim, Yu Kyung Seo, Jung-Yeon Shim, Hye Lim Jung, Moon Soo Park, Dong Hyuk Kum
Clin Exp Pediatr. 2002;45(3):413-417.   Published online March 15, 2002
Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter gene mutation. In this study, we performed renal clearance studies to differentiate Gitelman's from Bartter's syndrome and to confirm the diagnosis in two patients clinically diagnosed with Gitelman's syndrome. Each patient was hydrated...
A Case of Intestinal Perforation in Henoch-Sch nlein Purpura
Won Sik Kang, Chang Hwan Oh, Jae Young Kim, Young Taek Lee, Hye Jin Lee, Hee Jin Kim, Sung Won Kim
Clin Exp Pediatr. 2002;45(3):406-412.   Published online March 15, 2002
Henoch-Sch nlein purpura(HSP) is one of the most common vasculitic diseases of childhood, referred to as a leukocytoclastic vasculitis affecting small vessels. Although HSP related gastrointestinal symptoms are seen in up to 80% of patients during acute illness, these symptoms are usually transient. However, some patients with HSP have gastrointestinal major surgical complications such as intussusception, bowel infarction, necrosis, stricture,...
A Case of Bilateral Spontaneous Tension Pneumothorax Associated with Mycoplasma pneumoniae Infection
Jae Won Lee, Mi Young Heo, Hae Soon Kim, Seung Joo Lee
Clin Exp Pediatr. 2002;45(3):401-405.   Published online March 15, 2002
Mycoplasma pneumoniae(M. pneumoniae) is the leading cause of pneumonia in school-age children and young adults. The clinical courses are usually mild but recently, severe cases were reported such as lung abscess, Swyer-James syndrome and adult respiratory distress syndrome. Spontaneous pneumothorax associated with M. pneumoniae infection is rare. Carlisle reported a 6-year-old patient with bilateral spontaneous pneumothorax associated with M. pneumoniae...
A Case of Fetal Hepatic Calcificaion with a Good Prognosis
Kyong Hee Na, Hyun Jung Lee, Sung Soo Kim, Eun Young Kim, Kyoung Sim Kim, Yong Wook Kim
Clin Exp Pediatr. 2002;45(3):395-400.   Published online March 15, 2002
Recently, the increasing use of antenatal high resolutional ultrasonographic studies, and the increasing expertise of sonographers have contributed to the more frequent prenatal detecton of fetal hepatic calcification. Fetal hepatic calcification can arise from peritoneal, ischemic, infectious, neoplastic, and idiopathic causes. There are many reports that the prognosis is good in isolated fetal hepatic calcification without chromosomal aberrations, associated congenital...
A Case of Wilms Tumor with Thrombi which Invaded the Right Ventricule
Ji Hyun Uhm, Sung Chul Won, Chuhl Joo Lyu, Chang Hyun Yang, Byung Soo Kim, Eui Ho Hwang, Young Hwan Park, Chang Ok Seo
Clin Exp Pediatr. 2002;45(3):390-394.   Published online March 15, 2002
College of Medicine, Yonsei University, Seoul, Korea Wilms tumor is the second most common malignant retroperitoneal tumor. Inferior vena cava and right atrial involvement is found in about 4-10% and 0.5-3% of cases, respectively. But, right ventricular involvement has not been reported. We experienced a case of Wilms tumor with right ventricular invasion in a 2 year-old male who presented intermittent...
A Case of Partial DiGeorge Syndrome in Prematurity
Tae Jung Sung, Eun Young Ko, Dal Hyon Kim, Ji Eun Oh, Young Se Kwon, Dae Hyun Lim, Byong Kwan Son
Clin Exp Pediatr. 2002;45(3):383-389.   Published online March 15, 2002
We experienced a case of partial DiGeorge syndrome in a 35＋5 week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL,...
Two Cases of Hydrometrocolpos in Neonate
Min Young Park, Bo Ra Son, So Young Kim, Young You Kim, Hyun Hee Kim, Won-Bae Lee, In Kyung Sung, Chung Sik Chun, Su Aa Lim
Clin Exp Pediatr. 2002;45(2):278-283.   Published online February 15, 2002
Imperforated hymen, vaginal atresia or high transverse vaginal septum are caused by incomplete vaginal canalization. The infant may be present with distention of the vagina and the uterus with glandular secretions stimulated by maternal estrogens, known as hydrometrocolpos. We report two cases of hydrometrocolpos. In the first case, distal vaginal atresia with cystovaginal fistula was revealed by a contrast fluoroscope...
A Case of 4q Deletion with Partial Agenesis of Corpus Callosum
Mi Na Kang, In Suk Lim, Byeong Eui Kim, Myoung Jae Chey, Sang Woo Kim
Clin Exp Pediatr. 2002;45(2):273-277.   Published online February 15, 2002
Syndrome of 4q deletion is characterized by an abnormal shape of the skull, craniofacial dysmorphism, cardiovascular malformations, genitourinary defects, limb and digital anomalies, and developmental delay. We experienced a case of 4q interstitial deletion in a 2 day-old female neonate who showed short extremities, partial agenesis of corpus callosum and congenital heart defects. We report the case with a brief...
A False Diagnosis of Hypoplastic Left Heart Syndrome in a Fetus
Youn Jeong Shin, Sung Hee Jang, Jung Yun Choi, Eun Sook Han
Clin Exp Pediatr. 2002;45(2):267-272.   Published online February 15, 2002
Typical hypoplastic left heart syndrome(HLHS) is a distinct pathologic entity with aortic atresia, mitral atresia, very hypoplastic or absent left ventricle and thread like ascending aorta. Occasionally, the lesser degree of hypoplasia is found and is called hypoplastic left heart complex(HLHC) by some authors. This HLHC is often associated with critical aortic stenosis. Fetal echocardiography has enabled us to observe...
A Case of Vascular Ring Associated with Tracheitis Due to Type b Haemophilus influenzae
Su Hyun Kim, Yoon Sook Chung, Sung Hee Oh, Nam Su Kim, Hyuck Kim
Clin Exp Pediatr. 2002;45(2):261-266.   Published online February 15, 2002
Vascular ring, originating from abnormal regression of the aortic arch during fetal life, can cause prolonged and recurrent respiratory symptoms and dysphagia when the diagnosis is delayed. We report a 4 month old girl with vascular ring, who had been treated for persistent respiratory symptoms including stridor, wheezing, and dyspnea soon after birth. Initially her respiratory symptoms were thought to...
MRI Finding of a Case of Relapsed Acute Mixed Type Leukemia with Bone Marrow Necrosis
Joo Young Park, Euk Park, Seat Byeoul Park, Dong Seok Jeon, Hee Jung Lee, Heung Sik Kim, Chin Moo Kang
Clin Exp Pediatr. 2002;45(2):256-260.   Published online February 15, 2002
Bone marrow necrosis is a rare complication of a variety of diseases affecting the marrow. The cause and incidence are unknown, and reports of treatment response are rare. We describe a case of relapsed acute mixed type leukemia with bone marrow necrosis. The patient was a 10 year old female diagnosed with acute mixed type leukemia four years ago. She...
Pulmonary Valve Absence and Tetralogy of Fallot in CATCH 22
Hye-Young Ryu, Byoung-Lo Jin, Jin-Man Kim, Hong-Ryang Kil
Clin Exp Pediatr. 2002;45(1):137-140.   Published online January 15, 2002
Congenital absence of the pulmonary valve associated with Tetralogy of Fallot(TOF) is a relatively rare cardiac malformation. In the majority of cases, this lesion is associated with ventricular septal defect, obstructive pulmonary valve annulus, and massive dilatation of the pulmonary arteries. This combination of lesions is often called tetralolgy of Fallot and absent pulmonary valve. Although survival beyond infancy is frequent, a number of...
Two Cases of Acute Form of Tyrosinemia Type I
Kyu Tae Kim, Young Mi Kim, Su Eun Park, Sang Ook Nam, Jae Hong Park
Clin Exp Pediatr. 2002;45(1):131-136.   Published online January 15, 2002
Tyrosinemia type I is an autosomal recessive disorder of amino acid metabolism and is caused by a deficiency of fumarylacetoacetate hydrolase(FAH), the last enzyme in the catabolic pathway of tyrosine. The disease is characterized by hepatic dysfunction, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. We experienced 2 cases(a 4-day-old girl, a 7- month-old girl) of acute form of tyrosinemia type I. Case...
Small Intestinal Infarction Associated with Henoch-Schöenlein Purpura
Myung Ki Han, Yu In Park, Jeong Ho Kim, Jung Joo Lee, Hye Young Kang
Clin Exp Pediatr. 2002;45(1):125-130.   Published online January 15, 2002
Henoch-Schöenlein purpura, also known as anaphylactoid purpura, is characterized by palpable purpura, colicky abdominal pain, gastrointestinal hemorrhage, arthralgias, and renal involvement. Histopathologically, the condition represents a vasculitis, and in fact, it may be the most common vasculitis syndrome affecting children. The pathogenesis of Henoch-Schöenlein purpura remains poorly understood, but it is postulated that an unknown antigenic stimulus causes elevation of circulating IgA and that complement...
A Case of Hereditary Fructose Intolerance
Eun Kyeong Kang, Hye Ran Yang, Jeong Kee Seo, Sun Hoan Bai, Joo Young Jeong, Jae Sung Ko, Il Soo Ha, Jeong Han Song, Kyeong Ae Wi, Yoon Sook Shin
Clin Exp Pediatr. 2002;45(1):120-124.   Published online January 15, 2002
Hereditary fructose intolerance(HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B in which affected homozygotes develop hypoglycemia and abdominal symptoms after taking foods containing fructose. Chronic exposure to fructose may lead to progressive hepatic injury, renal injury, growth retardation, and ultimately to liver and kidney failure. Herein, we report a case of HFI with presentation of episodic vomiting, diarrhea, cold...
A Case of Central Nervous System Atypical Teratoid/Rhabdoid Tumor of The 4th Ventricle : A Highly Malignant Tumor in Infancy and Childhood Frequently Mistaken for Medulloblastoma
So Hee Eun, Sung Hee Jang, Myoung Hee Han, Myoung Ja Chung, Pyoung Han Hwang
Clin Exp Pediatr. 2001;44(12):1475-1479.   Published online December 15, 2001
Central nervous system atypical teratoid/rhabdoid tumor(CNS rhabdoid tumor) is a rare malignancy of uncertain origin. It typically occurs in infants and young children and comprises only a small fraction of pediatrics CNS malignancies. The tumor contains a large spindled cell component as classical rhabdoid morphology and focal areas resembling primitive neuroectodermal tumor. The tumor is defined histopathologically by the presence...
Two Cases of Infantile Hemangioendothelioma of the Liver in Neonates
Soo Jin Han, Soo Shin Cho, Gwang Hoon Lee, Ho Joon Im, Seong Ho Kim, Gil Hyun Kim, Hak Soo Lee
Clin Exp Pediatr. 2001;44(12):1469-1474.   Published online December 15, 2001
Infantile hemangioendothelioma(IHE) of the liver is a rare benign vascular tumor that presents most commonly in infants before the age of 6 months. IHE presents as abdominal mass, cutaneous hemangiomas, unexplained jaundice, bleeding disorders, or congestive heart failure. Death often results from congestive heart failure despite appropriate treatment with digoxin and diuretics. IHE also is associated with Kasabach-Merritt syndrome, anemia,...
A Case Of Common Variable Immunodeficiency with Fatal Measles
Su Jin Cho, So Hyun Kim, Soo Jung Lee, Kyung Ha Yoo, Kyung Hyo Kim
Clin Exp Pediatr. 2001;44(12):1463-1468.   Published online December 15, 2001
Common variable immunodeficiency(CVID) is a heterogeneous immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, and a variety of immunological abnormalities. We report a 10-year-old boy diagnosed with CVID and a fatal case of measles. He was admitted for fever, cough, conjunctival injection with purulent discharge and maculopapular rash with some scattered pinpoint sized petechial lesions on the whole body for...
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