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A case of Menkes disease with unusual hepatomegaly
Go Un Jeong, Anna Cho, Hee Hwang, Yong Seung Hwang, Ki Joong Kim, Jong Hee Chae, Jeong Kee Seo
Clin Exp Pediatr. 2008;51(5):538-541.   Published online May 15, 2008
Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective- tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four- month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma,...
Two cases of central nervous system complications caused by Mycoplasma pneumoniae infection
Shin Mi Kim, Ji Seung Heo, Eun Jung Shim, Dae Hyoung Lee, Do Jun Cho, Dug Ha Kim, Ki Sik Min, Ki Yang Yoo
Clin Exp Pediatr. 2008;51(5):533-537.   Published online May 15, 2008
Mycoplasma pneumoniae (M. pneumoniae) infection causes a wide variety of clinical manifestations in children and young adults, the main one being pneumonia. M. pneumoniae is transmitted from person to person by infected respiratory droplets. Symptoms caused by M. pneumoniae infection can be divided into those involving the respiratory tract, and those caused by extrapulmonary disease. M. pneumoniae infections may cause...
Autoimmune hepatitis and thyroiditis associated with antituberculous medications : A case report
Seong Keun Yu, Sara Kim, Jin Soo Moon, Han Seong Kim
Clin Exp Pediatr. 2008;51(5):528-532.   Published online May 15, 2008
Drug-induced toxic hepatitis is a relatively common hepatic disease in children, and it is usually self-limiting upon cessation of the offending drugs. Antituberculous drugs are well known for inducing hepatitis. Some cases of drug-induced hepatitis with autoimmune features have been reported; in these cases, the offending drugs were usually methyldopa, nitrofurantoin, minocycline, and interferon. The authors report the first case...
Cerebro-oculo-facio-skeletal syndrome : A case report
So Hee Lee, Seong Jin Hong, Jung Hwa Lee, Soo Yun Oh, Sun Heum Kim, Duk Hwan Kho, Kyo Sun Kim
Clin Exp Pediatr. 2008;51(4):435-438.   Published online April 15, 2008
The Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by multiple abnormalities that involve the brain, face, eyes, and extremities. COFS syndrome is regarded as a degenerative disorder of the brain and spinal cord caused by a mutation of the DNA repair genes. We report on an 8-month-old girl with COFS syndrome who exhibited growth and developmental delay,...
A case of midgut volvulus due to mesenteric lymphangioma, not associated with malrotation in a 13-year-old boy
Jung Ho Lee, Seok Ju Choi, Tae Yoon Kim, Young Tong Kim, Hyun Deuk Cho, Joon Soo Park
Clin Exp Pediatr. 2008;51(4):431-434.   Published online April 15, 2008
A 13-year-old boy, complained of an intermittent suddenly aggravated severe abdominal pain and diarrhea, was diagnosed as a small bowel volvulus without an intestinal malrotation, due to mesenteric lymphangioma. He took abdominal ultrasonography, abdominal CT scanning, upper gastrointestinal study and got an operation. The small bowel volvulus with cystic lymphangioma was confirmed by gross and pathologic findings.
Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay
Yun Mi Park, Han Nae Nho, Sook Za Kim, Young Min Ahn
Clin Exp Pediatr. 2008;51(4):426-430.   Published online April 15, 2008
We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the...
Methemoglobinemia development after ingestion of a chinese herbal medicine: A case report
Se Eun Hyun, Pil Joo Hwang, Kyung Pil Nam, Eun Gyong Yoo, Man Yong Han
Clin Exp Pediatr. 2008;52(3):385-388.   Published online March 15, 2009
An 8-year-old girl visited the emergency room with perioral cyanosis and dyspnea, which had developed 20 hrs prior to the hospital visit. She had taken a Chinese herbal medication for 3 days prior to the onset of the symptoms. A co-oximeter examination revealed a methemoglobin level of 23.7%. An intravenous infusion of methylene blue was administered. Chemical analysis of the...
A case of lethal kwashiorkor caused by feeding only with cereal grain
Hyun Ju Lee, Kyung Hye Km, Hye Jin Park, Kye Hyang Lee, Gyeong Hoon Lee, Eun Jin Choi, Jin Kyung Kim, Hai Lee Chung, Woo Taek Kim
Clin Exp Pediatr. 2008;51(3):329-334.   Published online March 15, 2008
Kwashiorkor is a syndrome of severe protein malnutrition, which manifests itself in hypoalbuminemia, diarrhea, dermatitis, and edema. It can be life-threatening due to associated immune deficiency and an increased susceptibility to infections. Kwashiorkor should be treated early with nutritional support and the control of infection. Dilated cardiomyopathy may develop during the treatment and in such cases a poor prognosis is...
Small bowel obstruction caused by an anomalous congenital band in an infant
Tae-Jung Sung, Ji-Woong Cho
Clin Exp Pediatr. 2008;51(2):219-221.   Published online February 15, 2008
Intestinal obstruction is not uncommon in infants. The common causes of intestinal obstruction in the neonatal period are Hirschsprung disease, intestinal atresia, meconium ileus, and intussusception. However, small bowel obstruction caused by a congenital band is very rare. We report a 27-day-old baby who was admitted with abdominal distension and fever. The abdominal X-ray revealed massive bowel dilatation and the...
Palliative effect of 131I-MIBG in relapsed neuroblastoma after autologous peripheral blood stem cell transplantation
Yong Jik Lee, Jeong Ok Hah
Clin Exp Pediatr. 2008;51(2):214-218.   Published online February 15, 2008
Neuroblastoma is one of the most common extracranial solid tumor of childhood, and treatment of refractory neuroblastoma remains a significant clinical problem. Iodine-131-metaiodobenzylguanidine (131I-MIBG) therapy is an alternative approach to treat stage Ⅳ neuroblastoma. We report the palliative effect of 131I-MIBG in three cases of relapsed neuroblastoma after autologous peripheral blood stem cell transplantation. 131I-MIBG is an effective and relatively...
Pericardial effusion in three cases of anorexia nervosa
Young Kuk Cho, Su Jin Yang, Jae Sook Ma
Clin Exp Pediatr. 2008;51(2):209-213.   Published online February 15, 2008
In young adolescent girls, anorexia nervosa is a significant cause of weight loss, and hospital admissions among children and adolescents. Anorexia nervosa is a life-threatening disorder, with about one-third of deaths caused by cardiac complications. A high rate of pericardial effusion has been recently reported in patients with anorexia nervosa, although relatively few cases require pericardiocentesis. Here, we describe three...
Change of neutrophil count after treatment of intravenous immunoglobulin in children with idiopathic thrombocytopenic purpura
Jun Young Park, Ji Ae Park, Seong Shik Park, Young Tak Lim
Clin Exp Pediatr. 2008;51(2):204-208.   Published online February 15, 2008
Purpose : The aim of this study was to investigate the incidence and course of neutropenia following intravenous immunoglobulin (IVIG) therapy in children with idiopathic thrombocytopenic purpura (ITP). Methods : From January 2001 to June 2006, fifty-four patients with ITP were enrolled in this study. Forty-two of 54 patients were treated with IVIG, while the other 12 were treated with...
Primary leiomyosarcoma of the chest wall in a child : a case report
Jae Hyuk Choi, David Chanwook Chung, Mee Jeong Lee
Clin Exp Pediatr. 2008;51(1):98-101.   Published online January 15, 2008
Leiomyosarcoma is an uncommon soft tissue sarcoma of mesenchymal cell origin, which shows smooth muscle differentiation. Leiomyosarcoma is seldom found in the pediatric population, and accounts for fewer than 2% of all soft tissue sarcomas. Leiomyosarcoma of the chest wall is extremely rare in children. We report here a case of an 8-year-old boy with a primary leiomyosarcoma that was...
Pheochromocytoma associated with cyanotic congenital heart disease
Seung Joon Chung, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Eun Jung Bae, Jung Il Noh
Clin Exp Pediatr. 2008;51(1):93-97.   Published online January 15, 2008
Pheochromocytoma is a rare tumor of childhood, arising from adrenal medullary and chromaffin tissue. Because chronic hypoxia may induce pheochromocytoma, there have been several reports of pheochromocytoma development in cyanotic patients after corrective or palliative cardiac surgery. The variable clinical presentation of pheochromocytoma is obscured by both underlying heart disease and medications. If sudden hypertension, aggravation of a heart condition,...
A case of delayed hemorrhage of a subcapsular liver hematoma in a neonate
Soo Kyoung Moon, Tae Suk Lee, Hye Sun Yoon
Clin Exp Pediatr. 2008;51(1):89-92.   Published online January 15, 2008
A subcapsular liver hematoma (SLH) is a relatively common lesion in fetuses and neonates. Although an SLH ruptures rarely, it may be life threatening. We report on a term neonate with a delayed rupture of an SLH that occurred on day 7 of life. The infant had been resuscitated with intubation, positive pressure ventilation, and chest compression at birth because...
Three cases of pulmonary and/or intestinal tuberculosis in adolescents
Jung Hye Byeon, Yoon Lee, Jin Chul Lee, Young Yoo, Kee Hyoung Lee, Kwang Chul Lee, Ji Tae Choung, Soo Youn Ham, Chul Whan Kim
Clin Exp Pediatr. 2007;50(11):1134-1138.   Published online November 15, 2007
Since the tuberculosis (TB) in adolescents has unique clinical characteristics, special attention should be paid to this age group. Adolescents are more susceptible to developing TB disease and more likely to have cavitary pulmonary disease. Also, adolescent patients with TB more frequently present with extrapulmonary disease. We report three adolescents with active pulmonary and/or intestinal TB: one had pulmonary and...
Long-term recombinant interferon-γ treatment in 2 cases of osteopetrosis
Dong-Yun Kim, Dong-Kyun Han, Hee-Jo Baek, Sung-Taek Jung, Hoon Kook, Tai-Ju Hwang
Clin Exp Pediatr. 2007;50(11):1129-1133.   Published online November 15, 2007
Osteopetrosis, a rare osteosclerotic bone disease characterized by a defect in osteoclast function and the reduced generation of superoxide by leukocytes, can be classified into several types based on their mode of inheritance, age of onset, severity, and associated clinical symptoms. Stem cell transplantation is the only curative therapy for the infantile malignant type, although alternative treatments, such as corticosteroids,...
Epidural hematoma treated by aspiration of accompanying cephalhematoma in a newborn infant
Ki Won Oh, Heng Mi Kim
Clin Exp Pediatr. 2007;50(11):1125-1128.   Published online November 15, 2007
Epidural hematoma is relatively rare in newborn infants and frequently associated with instrumental deliveries or other complications during labor and delivery. Although surgical evacuation has been the most common therapy, many other procedures have been described. Although many epidural hematomas require surgical evacuation rather than nonsurgical management, conservative or aspiration of hematoma have been attempted. In the case of EDH...
A case of pulmonary thromboembolism in a healthy infant
Woo-Yeon Choi, Young-Seok Choi, Soo-Min Oh, Young-Kuk Cho, Jae-Sook Ma
Clin Exp Pediatr. 2007;50(10):1030-1033.   Published online October 15, 2007
A pulmonary thromboembolism (PTE), which is a sudden blockage in a pulmonary artery, usually due to a blood clot, is rare in children. The clinical presentation is often subtle or masked by the underlying clinical condition and the condition must be suspected during clinical testing. Although the choice of treatment depends on the clinical presentation, anticoagulation is the mainstay of...
Costello syndrome: three sporadic cases
Ji Youn Kim, Mi Jeong Kim, Eun Song Song, Young Kuk Cho, Young Youn Choi, Jae Sook Ma
Clin Exp Pediatr. 2007;50(10):1024-1029.   Published online October 15, 2007
Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was...
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...
Stent implantation to relieve secondary pulmonary venous stenosis in total anomalous pulmonary venous connection: case report
Youn Ho Shin, Ki Eun Kim, Hae Sik Kwon, Byung Won Yoo, Jae Young Choi
Clin Exp Pediatr. 2007;50(9):919-924.   Published online September 15, 2007
Pulmonary venous stenosis may be congenital or acquired. Regardless of its origin, the prognosis for patients affected with PVS remains poor. There have been many attempts to palliate PVS with little success. This report describes two patients with PVS which became evident after repair of total anomalous pulmonary venous connection. Intravascular stents were successfully implanted, but progressive restenoses in the...
Effect of cytokines in breast milk on infant during the first two-years of life
Woo Kyung Kim, Hae-Sun Yoon
Clin Exp Pediatr. 2007;50(9):912-918.   Published online September 15, 2007
Purpose : Breast milk contains several components that provide specific immunity and affect the maturation of the infant's immune system. Allergic disease (AD), including atopic eczema, asthma, allergic rhinitis, and food allergy is characterized by an imbalance between cytokines produced by distinct T-helper cell subtypes. The aim of the study was to investigate the concentrations of cytokines and chemokines that...
A case of hepatopulmonary syndrome in a child with fatty liver disease secondary to hypopituitarism after craniopharyngioma resection
Sun Ju Im, Hyun Seok Park, Hyoung Doo Lee, Jae Hong Park, Hee Ju Park
Clin Exp Pediatr. 2007;50(8):794-798.   Published online August 15, 2007
Hepatopulmonary syndrome is a triad that includes: hepatic dysfunction, intrapulmonary vascular dilatation and abnormal arterial oxygenation. The incidence of intrapulmonary vascular dilatations, in adults with end-stage liver disease, has been reported to be 13% to 47%, however the incidence in children is unclear and the cases in Korean children have never been reported. The hepatopulmonary syndrome may occur as a...
Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions
Hee Moon Kim, Chul Hee Lee, Sung Koo Kim, Tae Jung Sung
Clin Exp Pediatr. 2007;50(8):789-793.   Published online August 15, 2007
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the...
Epidural emphysema and pneumoscrotum caused by bronchial foreign body aspiration
Dong-Yeon Kim, Woo-Yeon Choi, Young-Kuk Cho, Jae-Sook Ma
Clin Exp Pediatr. 2007;50(8):785-788.   Published online August 15, 2007
Epidural emphysema and pneumoscrotum with subcutaneous emphysema are rare in a child past the neonatal period. Their most common causes are bronchial asthma and respiratory infection. Here, we report an 18-month-old boy who was presented with severe air leak, consisting of epidural emphysema, pneumoscrotum, subcutaneous emphysema, and pneumomediastinum, complicated by a bronchial foreign body. The air leak was resolved dramatically...
Bronchial foreign body aspiration diagnosed with MDCT
Hye Kyung Cho, Ky Young Cho, Sung Yoon Cho, Sejung Sohn
Clin Exp Pediatr. 2007;50(8):781-784.   Published online August 15, 2007
Foreign body aspiration (FBA) is a common accident in young children. Undiagnosed and retained foreign bodies may result in severe early and late complications such as asphyxia, pneumonia, atelectasis and bronchiectasis. Moreover, because it can mimic bronchiolitis, croup or asthma, an accurate history and a high index of suspicion are of paramount importance for early diagnosis. With our experience on...
Two cases of Chryseobacterium meningosepticum infection in a neonatal intensive care unit
Hye Sun Yoon
Clin Exp Pediatr. 2007;50(7):698-701.   Published online July 15, 2007
We report on two premature infants who developed nosocomial infection caused by Chryseobacterium meningosepticum in a neonatal intensive care unit (NICU). One premature infant developed sepsis, meningitis, and hydrocephalus, and was treated successfully with ciprofloxacin plus trimethoprim-sulfamethoxazole combination therapy for 4 weeks and with a ventriculoperitoneal shunt. The other premature infant, who was in a chronically debilitated state, had infection...
A familial case report of paroxysmal kinesigenic dyskinesia in three brothers
Oh Dae Kwon, Sung Jin Hwang, Jun Hwa Lee, Ji Eun Kim, Kyung Jib Kim, Eul Ju Seo
Clin Exp Pediatr. 2007;50(7):694-697.   Published online July 15, 2007
Paroxysmal kinesigenic dyskinesia (PKD), previously referred to as movement-provoked seizures, is a rare neurological condition that is characterized by short duration dystonic or choreoathetotic movements precipitated by sudden movement, a change in position or hyperventilation. It can be difficult to distinguish this syndrome from seizures. We reported on three brothers in one family all of whom developed abnormal involuntary dystonic...
Surgical removal of a left ventricular thrombus caused by acute myocarditis
Kyu Ha Lee, Min Jung Yoon, Mi Young Han, Sa Jun Chung, Soo Cheol Kim
Clin Exp Pediatr. 2007;50(6):588-591.   Published online June 15, 2007
Left ventricular thrombus is mainly caused by anterior myocardial infarction or severe cardiac wall dysfunction of the apex, and is rarely caused by a complication of acute myocarditis. A 12-year-old female who developed symptoms of motor dysphasia and incomplete hemiparesis of the right side was admitted to the hospital. The brain MRI taken on the day of her admission showed...
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