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Case Report
MR Imaging of Disseminated Tuberculosis of the Brain in a Patient with Miliary Tuberculosis : Initial Findings and Changes Six Months after Antituberculous Therapy
Jae Ho Jang, Jae Woo Lim, Soon Lee Jung, Kyuchul Choeh, Taeil Han
Clin Exp Pediatr. 2002;45(12):1596-1600.   Published online December 15, 2002
A 23-month-old girl visited with chronic cough and her chest radiograph showed miliary tuberculosis. There was no neurological abnormality. But CSF findings showed WBC 22/mm3(lymphocyte 20%, neutrophil 80%) and positive result of polymease chain reaction(PCR) for M. tuberculosis. MR imaging showed multiple ring enhanced nodules and ovoid nonenhancing bright signal lesion on the cerebrum, cerebellar parenchyme, and left basal ganglia....
Familial Adenomatous Polyposis Improved by COX-2 Inhibitor in a Child
Ki Won Oh, Se Young Kim, Hwan Suk Lee, Myung Hoon Lee, Byung Ho Choe
Clin Exp Pediatr. 2002;45(12):1591-1595.   Published online December 15, 2002
Familial adenomatous polyposis(FAP) is an autosomal dominant disease characterized by numerous adenomas in the colorectum. Patients with FAP are always at risk of malignant transformation, so that colectomy is unavoidable. NSAID, such as sulindac, and selective COX-2 inhibitor, such as celecoxib, have shown a positive effect on FAP by causing polyp regression in some patients. We report a case of...
A Case of Rhizomelic Chondrodysplasia Punctata Type I
Dal Hyun Kim, Young Se Kwon, Yong Hoon Jun, Young Jin Hong, Byoung Kwan Son, Hye Ran Yoon
Clin Exp Pediatr. 2002;45(12):1585-1590.   Published online December 15, 2002
Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type...
A Case of Pseudo-Bartter's Syndrome Due to Hypertrophic Pyloric Stenosis
Yoon Hee Kim, Yoon Hee Kim, Tae Ho Lee, Tae Ho Lee, Hong Bae Kim, Hong Bae Kim
Clin Exp Pediatr. 2002;45(11):1430-1434.   Published online November 15, 2002
We report a 3-month old boy admitted to our hospital with Bartter's syndrome like symptoms and laboratory findings, which were vomiting, failure to thrive, hypochloremic and hypokalemic metabolic alkalosis associated with hyperreninemia, hyperaldosteronism and normal blood pressure. However, the urine chloride level was low. Hypertrophic pyloric stenosis was diagnosed through abdominal ultrasonography. Fredet-Ramstedt operation was done after electrolyte correction. After...
A Case of Congenital Solitary Liver Abscess
Sang Hee Kim, So Young Kim, You Jeong Kim, Hyun Hee Kim, Won Bae Lee, Kyung Tai Whang
Clin Exp Pediatr. 2002;45(11):1426-1429.   Published online November 15, 2002
Congenital solitary liver abscess in newborns is an extremely rare and serious disease. Only one case was reported in the literature. Most a liver abscesses have a postnatal origin. We encountered a premature infant who had a low. Apgar score and an elevated right diaphragm at birth. Pyogenic solitary liver abscess was diagnosed by ultrasound and computed tomography. Staphylococcus aureus...
A Case of Subcutaneous Fat Necrosis in Neonate with Meconium Aspiration Syndrome
Mi Ae Hong, Kyung Chang Oh, Seung In Ahn, Hye Jung Shin, Jin Keun Chang, Byung Doo Lee, Beyong Il Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2002;45(11):1422-1425.   Published online November 15, 2002
Subcutaneous fat necrosis in neonates is a rare disease characterized by skin lesions, which may be single or multiple, poorly circumscribed and often tender erythematous nodules or plaques on cheeks, buttocks, back, arms, and thighs. These symptoms are usually self-limited; resolution occurs over a period of weeks to months. Subcutaneous fat necrosis affects full term and healthy- appearing infants who...
A Case of Scoliosis Due to a Foreign Body(Pencil) in the Colon
Jeong Sik Seo, Sun Mi Chung, Eun Jin Choi, Jin Kyung Kim, Un Seok Nho, Hai Lee Chung, Dae Hyun Joo, Woo Taek Kim
Clin Exp Pediatr. 2002;45(11):1417-1421.   Published online November 15, 2002
Scoliosis describes a lateral curvature of the spine and is often associated with cosmetic and functional impairments due to severe deformity of the spine. The incidence of adolescent scoliosis is 2-4% of children between 10 and 16 years of age. Eighty five percent of them are idiopathic, in which the most common type of scoliosis is right side-bending. In addition,...
A Case of Melkersson-Rosenthal Syndrome
Dae Hun Pee, Yo Won Na, Ki Young Chang, Woo Keun Seo, Kee Hyoung Lee, Baik-Lin Eun
Clin Exp Pediatr. 2002;45(10):1292-1297.   Published online October 15, 2002
Melkersson-Rosenthal syndrome(MRS) is a rare disorder, having a symptom triad of recurrent facial palsy, orofacial swelling and fissured tongue(lingua plicata). This disorder is usually recurrent or progressive, and monosymptomatic or oligosymptomatic forms have been reported to be more common than classic forms. Generally, MRS occurs in young adults at the end of the second decade of life and incidence of the disease in childhood...
A Case of Systemic Capillary Leak Syndrome in a Child
Taeg Young Lee, Yoo Mi Chung, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 2002;45(10):1292-1297.   Published online October 15, 2002
Systemic capillary leak syndrome(SCLS) is a rare disorder of unknown etiology, which is characterized by recurrent attacks of hypotension, hemoconcentration, and hypoalbuminemia. Urinary or enteric loss of protein is not demonstrated. It is often associated with monoclonal gammopathy, but does not manifest multiple myeloma. Since Clarkson et al. described the first case in a 34- year-old woman, about 50 cases have been reported in...
A Case of Fetal Valproate Syndrome Associated with Both Elbow Joint Contractures
Yun Chang Choi, Eun Young Kim, Kynug Rye Moon, Young Il Rho
Clin Exp Pediatr. 2002;45(10):1288-1292.   Published online October 15, 2002
Fetal valproate syndrome has been described as a distinctive pattern of minor anomalies of the face and digits. This pattern has not been delineated completely but appears to involve brachycephaly with a high forehead, shallow orbit, ocular hypertelorism, small nose, small mouth, low set posteriorly rotated ears, long overlapping fingers and toes, and hyperconvex fingernail. Cleft palate and congenital heart disease have occasionally been...
A Case Report of Congenital Hyperekplexia in Twin
Bong Seok Choi, Young Mi Kim, Yun Jin Lee, Su Eun Park, Sang Ook Nam
Clin Exp Pediatr. 2002;45(10):1284-1288.   Published online October 15, 2002
Hyperekplexia or startle disease is a hereditary neurological disorder characterized by an abnormally exaggerated startle response to tactile, auditory and visual stimuli, together with a global muscular hypertonia and hyperactive tendon reflexes. This disease is a rare, genetically determined disorder, with an autosomal dominant inheritance with variable expression, first described by Suhren, et al. We report two cases of familial hyperekplexia, who developed hypertonia...
A Case of Glutaric Aciduria Type 1
Joon Young Song, Cheol Min Kim, Young Lim Shin, Han Wook Yoo
Clin Exp Pediatr. 2002;45(10):1278-1282.   Published online October 15, 2002
Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real...
A Case of Centronuclear Myopathy
Yun Hee Kim, Yun Hee Kim, Young Se Kwon, Young Se Kwon, Dae Hyun Lim, Dae Hyun Lim, Yong Hun Jun, Yong Hun Jun, Soon Ki Kim, Soon Ki Kim, Young Jin Hong, Young Jin Hong, Byong Kwan Son, Byong Kwan Son, Hae Seung Han, Hea Seung Han
Clin Exp Pediatr. 2002;45(9):1170-1174.   Published online September 15, 2002
Centrinuclear myopathy, an uncommon condition, is one of the congenital myopathies. It is characterized by the presence of central nuclei of muscle cells which can be detected on electronmicroscopy. It is believed to arise as a result of maturational arrest with persistence of microtubes postnatally. We report a boy with generalized hypotonia and muscle weakness who was diagnosed as centrinuclear...
A Case of Satoyoshi Syndrome Presented with Progressive Muscular Spasm and Alopecia
Kyung Ran Son, Jin Hwa Kook, Byung Ju Kim, Sung Jin Kim, Jae Sook Ma
Clin Exp Pediatr. 2002;45(9):1165-1169.   Published online September 15, 2002
Satoyoshi syndrome(generalized Komuragaeri disease) is a rare disorder of unknown cause, characterized by progressive, painful, intermittent muscle spasms and alopecia. Endocrinopathy with amenorrhea, secondary skeletal abnormalities, and diarrhea or unusual malabsorption are frequently seen. It seems that autoimmunity may play a role in its pathogenesis. We report a 13-year-old girl with characteristic manifestations of the syndrome. She was treated with...
A Case of Alport Syndrome Associated with Diffuse Esophageal Leiomyomatosis
Jin Young Jung, Cheol-Min Kim, Yean Jung Lim, Ja Hyung Kim, Chong Woo You, Bo-Hwa Choi, Soo-Joung Hong, Young Seo Park
Clin Exp Pediatr. 2002;45(9):1160-1164.   Published online September 15, 2002
University of Ulsan, Seoul, Korea We report a case of Alport syndrome associated with esophageal leiomyomatosis, presenting as recurrent pneumonia. A 5-year old girl who had a history of cataract visited the out patient clinic with a complaint of recurrent wheezing and respiratory difficulty which had started five months previously. Chest magnetic resonance image(MRI) and esophagography, checked on the suspicion of...
Two Cases of Wolff-Parkinson-White Syndrome in a Family
Chan Uhng Joo, So Hee Lim, Pyung Han Hwang
Clin Exp Pediatr. 2002;45(9):1150-1154.   Published online September 15, 2002
Wolff-Parkinson-White(WPW) syndrome is characterized by electrographic evidence of ventricular preexcitation, which predisposes to supraventicular arrhythmias. Familial occurrence of WPW syndrome is uncommon. We observed two affected siblings in a family. Five members of the family underwent 12-lead electrocardiography and echocardiography. Although known genetic abnormality of the 7q34-q36(PRKAG2) for the familial WPW syndrome was evaluated, the mutation was not detected in...
A Case of Stevens-Johnson Syndrome Plus Vanishing Bile Duct Syndrome Associated with Ibuprofen Use
Jee Yee Choi, Su Young Kim, Soon Ok Byun, Jae Hong Park
Clin Exp Pediatr. 2002;45(9):1146-1149.   Published online September 15, 2002
Acute vanishing bile syndrome is a cause of progressive cholestasis. It is most often drug or toxin related. It's pathogenesis is unknown. Stevens-Johnson syndorme is a well-recognized immune complex-mediated hypersensitivity reaction. It is induced by drug or infection. It has classic systemic, mucosal, and dermatologic manifestations. We report a case of a 14 years old female suffering from Stevens-Johnson syndrome...
A Case of Klinefelter Syndrome associated with Unilateral Multicystic Dysplastic Kidney in a Newborn Infant
Kyung A Ha, Sun Mi Chung, Eun Jin Choi, Jin Kyung Kim, Un Seok Nho, Jae Shin Park, Woo Taek Kim, Young Dae Kwon
Clin Exp Pediatr. 2002;45(9):1141-1145.   Published online September 15, 2002
Klinefelter syndrome is the most common chromosomal abnormality, with a 47, XXY karyotype and typical clinical findings of infertility, hypogonadism, reduced body hair, gynecomastia, tall stature, and incresed gonadotropins and decreased testosterone levels. In addition to this classic description, several other diseases have been discribed in Klinefelter syndrome such as unilateral renal aplasia, autoimmune disease, diabetes mellitus, sexual precoxity, renal...
Atypical Kawasaki Disease Presented with Toxic Shock Syndrome
Kyoung Yeon Lee, Jun Eun Park, Woo Sung Park
Clin Exp Pediatr. 2002;45(8):1048-1051.   Published online August 15, 2002
Toxic shock syndrome(TSS) is clinically similar to Kawasaki disease(KD) in that both of them are characterized by fever, desquamating rash and mucous membrane erythema. In contrast the main feature of TSS is hypotension, whereas the complication of KD is coronary vasculitis. We report an 8-year-old boy who fulfilled the crireria for TSS and KD. Initially he showed clinical features of...
Three Cases of Internal Jugular Phlebectasia
Ic Sun Choi, Kyung Ran Son, Byung Ju Kim, Jae Sook Ma
Clin Exp Pediatr. 2002;45(8):1043-1047.   Published online August 15, 2002
Phlebectasia is an abnormal dilatation of an isolated vein and a rare venous anomaly and is usually asymptomatic. Clinically internal jugular phlebectasia is a self limited benign condition and usually no treatment is required after initial diagnosis. So suspection of this disease and appropriate diagnostic approaches are essential to avoid unnecessary surgical intervention. We present three cases of internal jugular...
A Case of in-utero Vesicoamniotic Shunting and Postnatal Vesicostomy in Very Low Birth Weight Baby with Posterior Urethral Valve Syndrome
Sung-Hye Kim, Jae-Won Shim, Yun-Shil Chang, Soon-Ha Yang, Kwan-Hyeun Park, Dong-Kyu Jin, Won-Soon Park
Clin Exp Pediatr. 2002;45(8):1038-1042.   Published online August 15, 2002
We present a case of in-utero vesicoamniotic shunting and postnatal vesicostomy in a very low birth weight baby with posterior urethral valve syndrome. He was diagnosed as posterior urethral valve at 24＋5 weeks' gestation. Because of severe hydronephrosis and oligohydroamnios, the shunt was established by basket-shaped catheter at 27＋0 weeks' gestation. After shunt, hydronephrosis improved. At 29＋4 weeks' gestation, the...
A Case of Non-traumatic Rhabdomyolysis after Doxylamine Overdose
Sung Woog Hwang, Hyeung Kyeung No, Kee Hyuck Kim
Clin Exp Pediatr. 2002;45(8):1033-1037.   Published online August 15, 2002
Doxylamine is an antihistamine of the ethanolamine class. It is used primarily as a sleep-inducing agent. Clinicians should be aware of the complications in rhabdomyolysis patients who ingest doxylamine succinate and over-the-counter antihistamines. The easy availability of these substances increases the potential not only of intentional overdose by adults but also of inadvertent ingestion by children. Prompt intervention and careful...
A Case of Subcutaneous Panniculitis-like T Cell Lymphoma in Childhood
Yoon Seok Choi, Kyung Mi Shin, Sung Chul Won, Chuhl Joo Lyu, Chang Hyun Yang, Byung Soo Kim, Moon Kyu Kim
Clin Exp Pediatr. 2002;45(8):1028-1032.   Published online August 15, 2002
Subcutaneous pannicultis-like T cell lymphoma is a rare cutaneous T cell lymphoma. It presents with multiple subcutaneous nodules or plaques involving the extremities or trunk, and with constitutional symptoms that include fever, malaise, fatigue, myalgia, chills and weight loss. Histologically, the lesions of this disease are reminiscent of panniculitis and are composed of a mixture of small and large atypical...
A Case of Primary Epiploic Appendagitis
Tae Young Ha, Chi Kwan Kim, Jin Young Jeong, Jong Hwa Lee
Clin Exp Pediatr. 2002;45(8):1024-1027.   Published online August 15, 2002
Epiploic appendages are small, 0.5-5 cm long, peritoneal pouches containing small vessels and fat, located on the serous surface of the colon, from the cecum to the rectosigmoid junction. Pathologic states are rare in these appendages, the most frequent being is infarction either due to torsion or spontaneous. As a result of subsequent inflammatory reaction, the condition has been termed...
A Case of Neonatal Atrial Flutter Treated by Propafenone after Fetal Echocardiographic Diagnosis
Kyung Hwa Lee, Chang Woo Ha, Chul Ho Kim, Min Seob Song, Moon Su Sung
Clin Exp Pediatr. 2002;45(7):928-932.   Published online July 15, 2002
Perinatal atrial flutter is a potentially lethal arrhythmia. Management of this disorder is difficult and controversial. Fetal atrial flutter is a serious and life threatening rhythm disorder particulary when it causes hydrops; it may be associated with fetal death or neurological damage. Although the initial episode of flutter may be difficult to control, recurrence of atrial flutter after successful resolution...
A Case of Congenital Hepatic Fibrosis Accompanied by Renal Tubular Ectasia, Caroli Syndrome and Choledochal Cyst
Bong Seok Choi, Sang Nam Bae, Yong Tak Im, Jae Hong Park, Chang Hoon Lee, Jun Woo Lee
Clin Exp Pediatr. 2002;45(7):923-927.   Published online July 15, 2002
Congenital hepatic fibrosis is a relatively rare disease, characterized by bile ductular proliferation and prominent fibrosis in the portal area of liver resulting in portal hypertension. It is frequently associated with other abnormalities such as polycystic kidney, Caroli syndrome, cystic dysplasia of pancreas, intestinal lymphangiectasia, pulmonary emphysema, hemangioma, and cleft palate. We report here a case of congenital hepatic fibrosis...
Unbalanced Translocations of Chromosome 2 and Chromosome 20 in a Two-Generation Family
Saeah Min, Seonwoong Lim, Youngsook Kim, Ohkyung Lee
Clin Exp Pediatr. 2002;45(7):917-922.   Published online July 15, 2002
An unbalanced translocation is frequently the result of inheritance of an unbalanced haploid set from a parent with a balanced translocation. Families in which one parent is a balanced translocation carrier fall into the following classes : Those in which none of the possible abnormal offsprings is viable; Those in which one type of offspring, usually the one with the...
A Successful Transplant of HLA-3 Loci Mismatched Umbilical Cord Blood into a Patient with Acute Myeloid Leukemia from an Unrelated Donor
Byoung Chul Kwon, Kyung Mi Shin, Sung Chul Won, Chuhl Joo Lyu, Chang Hyun Yang, Hyun Ok Kim
Clin Exp Pediatr. 2002;45(7):912-916.   Published online July 15, 2002
Cord blood is a useful source of allogeneic hematopoietic stem cells for bone marrow reconstitution. The number of umbilical cord blood transplants is increasing worldwide. In this a case 15- month-old boy with acute myeloid leukemia was treated with umbilical cord blood transplant from an HLA-3 loci mismatched unrelated donor. Granulocyte recovery greater than 500/mm3 occurred at day 49, and...
A Case of Marshall-Smith Syndrome
Yeo Ok Moon, Woo Jong Shin, Youn Jeong Shin, Eun Sil Dong, Young Min Ahn
Clin Exp Pediatr. 2002;45(7):906-911.   Published online July 15, 2002
Marshall-Smith syndrome is characterized by a triad of facial dysmorphism, failure to thrive and accelerated osseous maturation. We report a one-month-old male infant with of this rare syndrome, with laryngeal anomalies who died at 6 months of age with pneumonia. This is the first case of Marshall-Smith syndrome in Korea.
A Case of Congenital Partial Nephrogenic Diabetes Insipidus
Eun Ha Mo, In Hye Nam, Min Ja Chung, Jae Hong Yu
Clin Exp Pediatr. 2002;45(7):902-905.   Published online July 15, 2002
The most common form of genetic nephrogenic diabetes insipidus(NDI), a rare inherited disorder, is congenital and is transmitted in an X-linked recessive mode. It is refractory to the antidiuretic effect of normal to moderately increased levels of plasma arginine vasopressin(AVP) but, in some cases, may respond to high levels of the hormone or its analogue, deamino-D-arginine vasopressin(DDAVP). X-linked congenital NDI...
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