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Case Report
Endocrinology
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
Mi Ji Lee, Byung Young Kim, Jae Sook Ma, Young Earl Choi, Young Ok Kim, Hwa Jin Cho, Chan Jong Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S112-S115.   Published online November 30, 2016

Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily....

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...
Original Article
Thrombotic thrombocytopenic purpura with decreased level of ADAMTS-13 activity and increased level of ADAMTS-13 inhibitor in an adolescent
Eun Mi Yang, Dong Kyun Han, Hee Jo Baek, Young Ok Kim, Myung Geun Shin, Hoon Kook, Tai Ju Hwang
Clin Exp Pediatr. 2010;53(3):428-431.   Published online March 15, 2010
Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy characterized by endothelial cell damage, resulting in microangiopathic hemolytic anemia, thrombocytopenia, and various degrees of neurological and renal impairment caused by microvascular thrombi. It is rare in children and frequently follows a fatal course. TTP is divided into 2 types: one is inherited and associated with ADAMTS-13 gene mutations and the other...
Case Report
Spontaneous intracranial internal carotid artery dissection in a child with psoriasis
Young Ok Kim, Young Jun Son, Young Jong Woo, Sook Jung Yun
Clin Exp Pediatr. 2009;52(9):1044-1047.   Published online September 15, 2009
A 13-year-old girl with psoriasis of the elbow, trunk, and face suddenly developed a severe headache followed by left hemiparesis and facial palsy. Brain magnetic resonance imaging showed an acute infarction of the right temporofrontal lobe and basal ganglia on the T2- and diffusion-weighted images. Cerebral angiography showed pre-occlusive irregular scalloped stenosis (99%) in the proximal M1 segment of the...
Facial palsy as the presenting symptom of acute myeloid leukemia in children: Three cases with stem cell transplantatio
Hee Jo Baek, Dong Kyun Han, Young Ok Kim, Ic Sun Choi, Tai Ju Hwang, Hoon Kook
Clin Exp Pediatr. 2009;52(6):713-716.   Published online June 15, 2009
Facial palsy as the presenting symptom of leukemia is very rare, especially in acute myeloid leukemia. A review of the medical literature identified reports on 8 children with AML who had facial paralysis as the presenting sign. Whole brain irradiation (WBI) has been applied in most cases. We present the cases of 3 such children. Achieving a remission without WBI,...
A case of mosaic ring chromosome 13 syndrome
Soo Young Kim, Soo Min O, Mi Jeong Kim, Eun Song Song, Young Ok Kim, Young Youn Choi, Young Jong Woo, Tai Ju Hwang
Clin Exp Pediatr. 2009;52(2):242-246.   Published online February 15, 2009
The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we...
A case of megalencephalic leukoencephalopathy with subcortical cysts
Eun Young Park, Young Ok Kim, Ji Youn Kim, Chae Young Yeo, Hee Jo Baek, Chan Jong Kim, Eun Young Kim, Young Jong Woo
Clin Exp Pediatr. 2008;51(12):1342-1345.   Published online December 15, 2008
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare white matter disorder, first described in the early 1990s. The brain in patients with MLC appears swollen on MRI, with diffuse white matter abnormalities; in addition, there is an invariable presence of subcortical cysts, primarily in the anterior temporal region sparing the deep white matter, basal ganglia, thalami, and cerebellum. Patients...
The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings
Young Ok Kim, Young Kuk Cho, En Song Song, Dong Kyun Han, Ic Sun Choi, Hee Jo Baek, Chan Jong Kim, Young Jong Woo, Young Youn Choi
Clin Exp Pediatr. 2008;51(11):1241-1244.   Published online November 15, 2008
We report on 2 siblings with a partial trisomy of 7q (7q22→qter) and concomitant partial monosomy of 8p (8p23.3→pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar...
A case of mixed connective tissue disease presenting initially with Raynaud`s phenomenon
Soo Young Kim, Young Seok Choi, Young Ok Kim, Young Jong Woo
Clin Exp Pediatr. 2008;51(8):886-891.   Published online August 15, 2008
Mixed connective tissue disease (MCTD) is characterized by diverse symptoms including rheumatoid arthritis, scleroderma, systemic lupus erythematosus, and dermatomyositis, associated with high titers of antibodies to extractable nuclear antigen (ENA), especially anti-ribonucleoprotein (anti-RNP) antibody. Since the first report of 25 cases with MCTD in adults, there have been only a few cases of MCTD reported in children. Here, we report...
An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis
Chae Young Yeo, Young Ok Kim, Myeong Kyu Kim, Ji Youn Kim, Young Kuk Cho, Chan Jong Kim, Young Jong Woo
Clin Exp Pediatr. 2008;51(7):771-774.   Published online July 15, 2008
Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but...
Original Article
Comparison of growth and neuropsychological function after treatment for hematologic and oncologic diseases in monozygotic twins
Gi Hwan Kim, Hoon Kook, Hee Jo Baek, Dong Kyun Han, Eun Song Song, Young Kook Jo, Ic Sun Choi, Young Ok Kim, Chan Jong Kim, Young Jong Woo, Soo Jin Yang
Clin Exp Pediatr. 2007;50(2):182-189.   Published online February 15, 2007
Purpose : The primary purpose of this study was to evaluate the growth and neuropsychologic function following treatments for pediatric hematologic and oncologic diseases. Healthy monozygotic twins served as ideal controls for comparison to exclude possible confounding factors. Methods : Seven children treated with various hematologic and oncologic diseases were included in the study: acute lymphoblastic leukemia (ALL; n=2), Diamond-Blackfan anemia...
Frequency and clinical characteristics of prenatally diagnosed congenital hydronephrosis and outcomes of ureteropelvic junction stenosis
Hyun Soo Kang, June Seung Sung, Sun Hui Kim, Hee Jo Back, Young Ok Kim, Chan Jong Kim, Young Youn Choi, Tai Ju Hwang
Clin Exp Pediatr. 2006;49(8):870-874.   Published online August 15, 2006
Purpose : Popular use of fetal ultrasonography has increased to detect congenital hydronephrosis(CH) which is the most common anomaly prenatally detected. We'd like to determine the frequency and clinical characteristics of prenatally diagnosed CH and outcome of ureteropelvic junction stenosis(UPJS). Methods : The records of births between January 1994 and June 2003 in Chonnam National University Hospital(CNUH), and the records of...
Case Report
A case of Tolosa-Hunt syndrome
Do Gyun Kim, Young Ok Kim, Young Jong Woo
Clin Exp Pediatr. 2006;49(6):696-699.   Published online June 15, 2006
소아에서 드물게 보고되는 토로사-헌트 증후군은 둔하면서 지속적인 안와 주위의 통증과 안구운동 장애 및 해면동 주위의 뇌신경 침범을 특징으로 하는 질환으로 비특이적 염증조직에 기인한 것으로 알려져 있다. 이는 자연 치유도 가능하나 대개 스테로이드가 증상의 회복에 효과적이며 신속한 호전을 유도한다. 토로사-헌트 증후군은 그 예후가 양호하다고 알려져 있으나 일부는 치료 후에 재발하기도 한다. 우리는 토로사-헌트 증후군으로 진단받고 스테로이드 치료 후 특별한 휴우증 없이...
Original Article
Clinical characteristics and outcomes of status epilepticus as an initial seizure in children
Mi Jeong Kim, Young Ok Kim, Sun Hee Kim, Woo Yeon Choi, Hyung Suk Byun, Chan Jong Kim, Young Jong Woo
Clin Exp Pediatr. 2006;49(6):659-664.   Published online June 15, 2006
Purpose : To evaluate the morbidity and mortality of children with status epilepticus(SE) as an initial seizure and to compare these according to age groups. Methods : The 78 cases(38 cases <2 years and 38 cases ≥2 years) with SE as an initial seizure admitted to the Chonnam national university hospital from Jan. 2000 to Jan. 2004 were reviewed. Developmental profiles,...
Case Report
A huge trichobezoar in the jejunum
Ho Kyung Lim, Young Ok Kim, Young Jong Woo
Clin Exp Pediatr. 2006;49(5):574-576.   Published online May 15, 2006
An otherwise healthy, 8-year-old girl presented with vague abdominal pain, vomiting, and a tensely distended abdomen. Abdominal ultrasonography and computed tomography demonstrated a huge amount of jejunal material, about 10 cm long, resulting in near obstruction of the jejunum. The material was removed surgically and a postoperative pathologic report confirmed that it was a trichobezoar. A postoperative consultation with a...
Primary psoas abscess confused with hip pathology
Young Ok Kim, Young Jong Woo
Clin Exp Pediatr. 2006;49(5):570-573.   Published online May 15, 2006
A healthy, 14-year-old boy presented with right hip pain and consequent fever after falling out of bed while sleeping. The patient could not walk and complained of severe pain with active and passive motion, which consisted mainly in extension and internal rotation of the right hip. Laboratory analysis of the peripheral blood identified leukocytosis and increased levels of acute phase...
Original Article
Neurologic Complications after Hematopoietic Stem Cell Transplantation in Children
Moon Young Jeong, Young Kuk Cho, So Youn Kim, Young Ok Kim, Chan Jong Kim, Hoon Kook, Young Jong Woo, Tai Ju Hwang
Clin Exp Pediatr. 2004;47(9):978-985.   Published online September 15, 2004
Purpose : Neurologic complications(NC) after hematopoietic stem cell transplantation(HSCT) are important because of high mortality and severe sequelae. We analyzed the incidence, manifestation and risk factors of NC in 61 children undergoing HSCT. Methods : We retrospectively analyzed NC in 61 cases(42 male and 19 female, aged one to 16 years) given HSCT between 1996 and 2003 due to hematologic malignacies,...
Changes in Incidence, Survival Rate and Morbidity of Very Low Birth Weight Infants
Young Ok Kim, Sun Hui Kim, Chang Yee Cho, Young Youn Choi, Jin Hwa Kook, Tae Ju Hwang
Clin Exp Pediatr. 2003;46(8):769-776.   Published online August 15, 2003
Purpose : The survival rate of very low birth weight infants(VLBWI) has improved by virtue of specialized neonatal care. This study was performed to analyze the changes in incidence, survival rate and morbidity of VLBWI who admitted to Chonnam National University Hospital from 1996 to 2001. Methods : We enrolled 565 VLBWI, and compared the incidence and the survival rate according...
Case Report
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,...
An Autopsy Case of Congenital Intestinal Atresia with Segmental Defect of Small Intestine
Keum Sik Shin, Young Ok Kim
Clin Exp Pediatr. 1972;15(2):149-151.   Published online February 28, 1972
An autopsy case of congenital intestinal atresia in a 3-day-old femalle newborn who expired 17 days after operation (jejuno-ileostomy) is presented.
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