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Case Report
A childhood case of spinal tuberculosis misdiagnosed as muscular dystrophy
Doo Il Song, Su Ye Sohn, Yun Kyung Kim, So Hee Eun, Young Jun Rhie, Gi Young Jang, Chan Wook Woo, Byung Min Choi, Jung Hwa Lee, Bo Kyung Je
Clin Exp Pediatr. 2010;53(5):657-660.   Published online May 31, 2010

Tuberculosis is primarily a pulmonary disease, but extra-pulmonary manifestations are not uncommon, especially in children and adolescents. Ten percent of extra pulmonary tuberculosis localizes to the bones and joints, and 56% of such cases affect the spine. We treated a childhood case of spinal tuberculosis misdiagnosed as muscular dystrophy in a patient without specific constitutional symptoms. We report this case...

A case of Bickerstaff's brainstem encephalitis in childhood
Ji Youn Kim, Young Ok Kim, Young Jun Son, Young Jong Woo
Clin Exp Pediatr. 2010;53(4):607-611.   Published online April 15, 2010
Bickerstaff's brainstem encephalitis (BBE) is a rare disease diagnosed by specific clinical features such as 'progressive, relatively symmetric external ophthalmoplegia and ataxia by 4 weeks' and 'disturbance of consciousness or hyperreflexia' after the exclusion of other diseases involving the brain stem. Anti-ganglioside antibodies (GM, GD and GQ) in the serum or cerebrospinal fluid (CSF) are sometimes informative for the diagnosis...
A case of paraneoplastic limbic encephalitis due to ovarian mature teratoma
Seong Heon Kim, hye Young Kim, Young Tak Im, Sang Ook Nam, Young Mi Kim
Clin Exp Pediatr. 2010;53(4):603-606.   Published online April 15, 2010
Paraneoplastic limbic encephalitis, a remote effect of cancer without nervous system metastasis, is rare, especially in childhood. Here, we report a case of paraneoplastic limbic encephalitis associated with an ovarian mature teratoma in an adolescent girl. The 15-year-old girl developed neuropsychiatric symptoms, memory loss, seizures, and unconsciousness. Cerebrospinal fluid analysis and brain magnetic resonance imaging (MRI) findings were normal, while...
A case of severe transient hyperammonemia in a newborn
Min Woo Hwang, Seung Taek Yu, Yeon Kyun Oh
Clin Exp Pediatr. 2010;53(4):598-602.   Published online April 15, 2010
Transient hyperammonemia in a newborn is an overwhelming disease manifested by hyperammonemic coma. The majority of affected newborns are premature and have mild respiratory syndrome. The diagnosis may be difficult to determine. This metabolic disorder is primarily characterized by severe hyperammonemia in the postnatal period, coma, absence of abnormal organic aciduria and normal activity of the enzymes of the urea...
A case of Hyper-IgE syndrome with a mutation of the STAT3 gene
Ji-man Kang, Jungmun Suh, Jihyun Kim, Hee-Jin Kim, Yae-jean Kim, Hun Seok Lee, Young Kee Shin, Kangmo Ahn, Sang-Il Lee
Clin Exp Pediatr. 2010;53(4):592-597.   Published online April 15, 2010
Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene (stat3) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent...
A case of steroid-induced psychosis in a child having nephrotic syndrome with toxic epidermal necrolysis
Sae Yoon Kim, Jae Min Lee, Yong Hoom Park
Clin Exp Pediatr. 2010;53(3):437-441.   Published online March 15, 2010
Toxic epidermal necrolysis (TEN) and Stevens–Johnson syndrome (SJS) are rare, life-threatening mucocutaneous diseases, usually attributable to drugs and infections. Corticosteroids have been used in the management of TEN for the last 30 years. This remains controversial and is still much debated. TEN can occur despite administration of high doses of systemic corticosteroids. The psychiatric side effects of corticosteroids can include...
Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)
Hye Young Jin, Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2010;53(3):432-436.   Published online March 15, 2010
Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old...
A case of postoperative nasopharyngeal reflux associated with retropharyngeal lymphangioma in newborn infant
Ah Reum Kwon, Eun Jung Park, Ki Hwan Kim, Dong Soo Kim
Clin Exp Pediatr. 2010;53(2):262-266.   Published online February 15, 2010
Tumor necrosis factor-α (TNF-α) is a major proinflammatory cytokine involved in the pathophysiology of juvenile rheumatoid arthritis. Etanercept is an effective inhibitor of TNF-α and has shown a beneficial effect in patients with JRA. However, the most important cause of concern related to etanercept administration is infection. We report a case of encephalitis in a JRA patient receiving long-term treatment...
A case of postoperative nasopharyngeal reflux associated with retropharyngeal lymphangioma in newborn infant
Kyo Yeon Koo, Jun Seok Lee, Soon Min Lee, Min Soo Park, Ran Namgung, Kook In Park, Chul Lee, Choon Sik Yoon, Woo Hee Jung, Hong Shik Choi
Clin Exp Pediatr. 2010;53(2):258-261.   Published online February 15, 2010
Lymphangioma is a rare benign congenital tumor of the lymphatic system, which is commonly diagnosed before 2 years of age. In the natronal report, cystic lymphangioma was usually reported as a huge translucent mass located in the head and neck area. It's occurrence in retropharyngeal space with respiratory obstruction and swallowing difficulty in neonate is extremely rare and postoperative nasopharyngeal...
A case of atypical hemolytic uremic syndrome as an early manifestation of acute lymphoblastic leukemia
Dong Kyun Han, Hee Jo Baek, Young Kuk Cho, Chan Jong Kim, Myung Geun Shin, Hoon Kook, Tai Ju Hwang
Clin Exp Pediatr. 2010;53(2):253-257.   Published online February 15, 2010
Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in children younger than 4 years and is characterized by microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. HUS associated with diarrheal prodrome is usually caused by Shiga toxin-producing Escherichia coli O157:H7 or by Shigella dysenteriae, which generally has a better outcome. However, atypical cases show a...
Anomalous origin of left coronary artery arising from the right coronary cusp presenting with chest discomfort and syncope on physical exercise
Ran Baik, Nam Kyun Kim, Han Ki Park, Young Hwan Park, Byung Won Yoo, Jae Young Cho
Clin Exp Pediatr. 2010;53(2):248-252.   Published online February 15, 2010
Anomalous origins of coronary arteries are a rare type of disease among children. These anomalies can be categorized into 3 types according to the anatomical relationship of the aorta and pulmonary trunks. Among these types, the interarterial type, as observed in our case, needs early diagnosis and treatment, because it can increase the risk for the patient, causing sudden cardiac...
Decreased heart sound in a healthy newborn: Spontaneous multiseptated cystic pneumomediastinum with delayed respiratory distress
Young June Choe, Eun eun Kim, Ee-Kyung Kim, Han-Suk Kim, Jung-Eun Chun, Woo Sun Kim, In-One Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2010;53(2):244-247.   Published online February 15, 2010
Spontaneous pneumomediastinum in the absence of predisposing risk factors has been rarely observed in full-term neonates. A 3-day-old neonate, delivered vaginally at term without any perinatal complications or signs of respiratory difficulty, was referred to the Seoul National University Children’s Hospital because of reduced heart sound detected during routine neonatal examination. Chest computed tomography (CT) showed air collection in the...
High-dose caspofungin salvage in a very-low-birth-weight infant with refractory candidemia
Eun Sun Seo, Geun Hwa Park, Sung Mi Kim, Hye An Jung, Byoung Kuk Kim
Clin Exp Pediatr. 2010;53(2):239-243.   Published online February 15, 2010
Candidiasis is one of the most common causes of late-onset infection among very-low-birth-weight infants (VLBW) in most neonatal intensive care units and is associated with significant morbidity and mortality. Standard therapy consists of the administration of amphotericin B, amphotericin B complex, and fluconazole. In many cases, candidiasis is not easily eradicated, despite the administration of these drugs. We report our...
Two cases of Fabry disease identified in brothers
Ji Eun Cho, Yong Hee Hong, Yang Gyun Lee, Han Wook Yoo, Dong Hwan Lee
Clin Exp Pediatr. 2010;53(2):235-238.   Published online February 15, 2010
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the α-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene...
A case of hippocampal sclerosis diagnosed as cortical dysplasia due to preoperative brain MRI finding
Jun Seok Lee, Kyo Ryung Kim, Jeong Tae Kim, Min Jung Choi, Young Mock Lee, Heung Dong Kim, Joon Soo Lee, Dong Seok Kim, Tae Seong Kim
Clin Exp Pediatr. 2010;53(1):106-110.   Published online January 15, 2010
Hippocampal sclerosis (HS) is one of the most common features of intractable temporal lobe epilepsy. Generally it can be identified through brain magnetic resonance imaging (MRI) with high degree of sensitivity and specificity. Typical brain MRI findings of HS are hippocampal atrophy with hyperintense signal confined to the lesion. On the other hand cortical dysplasia exhibits blurring of the gray-white...
Thymolipoma in a 13-year-old Korean girl
Su-Jin Park, Ji Young Baek, Junjeong Choi, Kyung Won Kim, Myung Joon Kim, Myung Hyun Sohn, Kyu-Earn Kim
Clin Exp Pediatr. 2010;53(1):103-105.   Published online January 15, 2010
Thymolipoma is a rare benign tumor of anterior mediastinum. Most patients are asymptomatic with incidental finding of the tumor during a diagnostic workup of other medical problems. We present a case of 13-year-old girl with anterior mediastinal thymolipoma, surgically removed after an incidental diagnosis.
Macroglossia secondary to lymphangioma of the deep neck space: Report of two cases
Han-Gil Cho, Soo-Young Kim, Eun-Song Song, Joon-Kyoo Lee, Young-Youn Choi
Clin Exp Pediatr. 2010;53(1):97-102.   Published online January 15, 2010
Lymphangioma is a rare, benign, and hamartomatous tumor of the lymphatic vessels that shows a marked predilection for the head and neck region. When this tumor occurs on the tongue or mouth floor or in the deep neck space, blockage of the efferent lymphatic vessels can result in secondary macroglossia. We report here two patients who showed unusual macroglossia from...
The effect of perioperative inhaled iloprost on congenital heart disease with severe pulmonary arterial hypertension
Su Nam Kim, Deok Young Choi
Clin Exp Pediatr. 2010;53(1):93-96.   Published online January 15, 2010
A 47-year-old male patient in whom atrial septal defect (ASD) had been diagnosed 15 years previously was admitted for cardiac catheterization. He had definite cyanotic lips and nail beds and severe pulmonary arterial hypertension (PAH). He had received medical treatment only for the last few years after being diagnosed with Eisenmenger syndrome. After cardiac catheterization, he received iloprost inhalation therapy...
Perianastomotic ulceration presenting with long-term iron deficiency anemia and growth failure: A case report and review of the literature
Kyung Ji Kang, Eun Ha Kim, Eun Young Jung, Woo-Hyun Park, Yu-Na Kang, Ae Suk Kim, Jin-Bok Hwang
Clin Exp Pediatr. 2010;53(1):89-92.   Published online January 15, 2010
Perianastomotic ulceration (PAU) rarely occurs after small bowel resection in infancy. Since the understanding of its pathogenesis is incomplete, an effective method of treatment has not yet been discovered. We report the first case in Korea of a 10-year-old girl with chronic iron deficiency anemia (IDA) and growth failure who was diagnosed with PAU at colonoscopy. Seven years were required...
A case of Plasmodium vivax malaria occurring during a school excursion to Pocheon-gun
Byung Ok Kwak, Sochung Chung, Kyo Sun Kim
Clin Exp Pediatr. 2010;53(1):85-88.   Published online January 15, 2010
Malaria caused by Plasmodium species is characterized by paroxysms of fever, chills, fatigue, anemia, and splenomegaly. Vivax malaria has lately re-emerged as an infectious disease and has exhibited high transmission rate in northern Gyeonggi-do province. We encountered a case of malaria in a child presenting with fever and thrombocytopenia who had recently made a school excursion to Pocheon-gun, Gyeonggi-do. The...
A case of pulmonary vascular air embolism in a very-low-birth-weight infant with massive hydrops
Myo Jing Kim, Hee Joon Yu, Cha Gon Lee, Soo Kyoung Park, Yun Sil Chang, Won Soon Park
Clin Exp Pediatr. 2009;52(12):1392-1395.   Published online December 15, 2009
Pulmonary vascular air embolism is a rare and, universally, almost a fatal complication of positive pressure ventilation in newborn infants. Here, we report a case of this unusual complication in a very-low-birth-weight infant who showed the clinical and radiological features of this complication along with pulmonary hypoplasia and massive hydrops. The possible pathogenesis has been discussed and a brief review...
The first Korean case of poland-Möbius syndrome associated with dextrocardia
Jiyoung Jung, Han Gyu Kim, Hae-Mi Ahn, Su Jin Cho, Eun Ae Park
Clin Exp Pediatr. 2009;52(12):1388-1391.   Published online December 15, 2009
Poland syndrome is characterized by unilateral absence or hypoplasia of the pectoralis muscle and variable degree of ipsilateral hand anomalies. Möbius syndrome is a congenital neurological disorder characterized by complete or partial facial paralysis. Although the pathogeneses of these diseases are not well-characterized, diminished blood flow to the affected side is thought to play a role. A male infant weighing...
A case of glycogen storage disease type Ib
Moon-Sun Kim, Jae-Bok Park, Chang-Seok Ki, Jin-Kyung Kim
Clin Exp Pediatr. 2009;52(12):1383-1387.   Published online December 15, 2009
We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/µL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp).
Macroamylasemia in a 4-year-old girl with abdominal pain
Jeong Hee Ko, Dae Hyoung Lee
Clin Exp Pediatr. 2009;52(11):1283-1285.   Published online November 15, 2009
Macroamylasemia is a benign condition characterized by abnormally large-sized serum amylase; it has been reported to occur in 1–2% of the population. In macroamylasemia, a macromolecular complex consisting of amylase linked to immunoglobulins circulates in the plasma and usually causes hyperamylasemia with low or normal amylasuria. Macroamylasemia is extremely rare in children. We report a case of a 4-year-old girl...
Hepatic glycogenosis in a patient with poorly controlled type 1 diabetes mellitus
Hye Young Jin, Dae-Young Kang, Jin-Ho Choi
Clin Exp Pediatr. 2009;52(11):1279-1282.   Published online November 15, 2009
Hepatomegaly and liver dysfunction might develop in patients with diabetes mellitus due to glycogen deposition or nonalcoholic steatohepatitis. We experienced a case of hepatic glycogenosis in a patient with type 1 diabetes mellitus who presented with recurrent hypoglycemia, suggesting impairment of glycogenolysis and gluconeogenesis. A 10-year-old girl with a 4-year history of type 1 diabetes mellitus was admitted because of...
A case of persistent pulmonary hypertension of the newborn: Treatment with inhaled iloprost
Yoon Young Jang, Hye Jin Park
Clin Exp Pediatr. 2009;52(10):1175-1180.   Published online October 15, 2009
We report a case of a full-term neonate with persistent pulmonary hypertension who developed asphyxia after birth and was treated with iloprost. The neonate had persistent hypoxia and did not respond to supportive treatment. Because inhaled nitric oxide (iNO) was not available in our hospital, inhaled iloprost was administered via an endotracheal tube. This resulted in an immediate elevation of...
Partial trisomy of chromosome 18q11.2-q12: A case report
Ah Ra Cho, Hye Ryoun Kim, Mi Kyung Lee, Sin Weon Yun, Jung Ju Lee
Clin Exp Pediatr. 2009;52(10):1171-1174.   Published online October 15, 2009
Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is...
A case of gastric trichobezoar causing psychiatric problems
Ji Young Seo, Min Young Kim, Jae Ho Noh, Chun Dong Kim, Jae Ock Park, Gyo Chang Choi
Clin Exp Pediatr. 2009;52(10):1167-1170.   Published online October 15, 2009
Trichobezoar is characterized by the accumulation of hair in the gastrointestinal tract and usually occurs in those who have trichotillomania, other psychiatric disorders, or neurologic problems. Trichobezoar typically presents as gastric obstruction, including abdominal pain, vomiting, anorexia, and weight loss. A 9-year-old girl visited our clinic with the complaint of abdominal discomfort and vomiting. A review of her medical history...
Postnatal cytomegalovirus infection in an extremely premature infant transmitted via breast milk: A case report
Ji Hye Kim, Eun-Jin Chung, Hyun Kyung Park, Soo Ji Moon, Su-Mi Choi, Sung Hee Oh
Clin Exp Pediatr. 2009;52(9):1053-1058.   Published online September 15, 2009
Cytomegalovirus (CMV) is one of the most commonly encountered viral pathogens in newborn infants and is found in 0.3-2.4% of all live births. It has been demonstrated that 40-96% of seropositive mothers shed the virus via their breast milk. Breast milk containing CMV can cause almost one-third of CMV infections occurring in infants. A case of postnatal CMV infection in...
Fatal plastic bronchitis with eosinophilic casts in a previously healthy child
Young Kuk Cho, Soo Min Oh, Woo-Yeon Choi, Eun Song Song, Dong-Kyun Han, Young-Ok Kim, Jae Sook Ma
Clin Exp Pediatr. 2009;52(9):1048-1052.   Published online September 15, 2009
Plastic bronchitis is a rare disease characterized by the recurrent formation of branching mucoid bronchial casts that are large and more cohesive than those that occur in ordinary mucus plugging. Casts may vary in size and can be spontaneously expectorated, but some require bronchoscopy for removal. Plastic bronchitis can therefore present as an acute life-threatening emergency if obstruction of the...
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