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Case Report
Pulmonary arteriovenous malformation manifesting with perioral cyanosis and dyspnea on exertion: A case report
Yu Kyung Kim, Jin Woo Kim, Gun Lee, Man Yong Han
Clin Exp Pediatr. 2009;52(1):124-128.   Published online January 15, 2009
Pulmonary arteriovenous malformations (PAVMs) are direct communications between pulmonary arteries and pulmonary veins, resulting in right-to-left shunts that may cause cyanosis, dyspnea, and digital clubbing. Neurological complications such as intracerebral hemorrhage or brain abscess may result from cerebral thrombosis or emboli. In most cases, they remain unrecognized until the late teenage years. Here, we report a case of a 6-year-old...
Hand-Foot syndrome induced by sorafenib, a multitargeted tyrosine kinase inhibitor, in a patient with advanced renal cell carcinoma
Seung Hyun Lee, Sung Hun Noh, Sun Young Kim, Kyu Yun Jang, Pyoung Han Hwang
Clin Exp Pediatr. 2009;52(1):119-123.   Published online January 15, 2009
Renal cell carcinoma (RCC) arising from epithelial cells of the renal tubules is a highly aggressive and malignant tumor in all ages; however, it rarely occurs in children. the standard treatment for RCC is radical nephrectomy with lymph node dissection when the tumor is localized and can be completely resected. Adjuvant chemotherapy, radiotherapy, and immunotherapy are used for pediatric patients...
A case of herpes zoster in a 4-month-old infant
Ji Hyun Kim, Jung Ju Lee, Sin Weon Yun, Soo Ahn Chae, In Seok Lim, Dong Keun Lee, Eung Sang Choi, Byoung Hoon Yoo
Clin Exp Pediatr. 2008;51(12):1368-1371.   Published online December 15, 2008
Herpes zoster in infancy is very rare but can be developed following intrauterine or postnatal exposure to varicella zoster virus. We report a case of herpes zoster in a 4-month-old male infant. He had no prior history of primary varicella or varicella vaccination. His mother had no history of varicella infection and no contact history with varicella during pregnancy. He...
Cerebellar cavernous hemangioma that presented with posterior neck myalgia
Seung-Ah Baek, Kyung-Lim Yoon, Kye-Shik Shim, Jae-Seung Bang
Clin Exp Pediatr. 2008;51(12):1363-1367.   Published online December 15, 2008
Cavernous hemangioma can occur in the entire brain but rarely in cerebellum, especially in the pediatric age group. Headache, seizure, gait disturbance, recurrent bleeding may be seen. This tumor is a relatively benign condition but if the lesion located in the posterior fossa or the brain stem bleeds, irreversible brain damage may occur because of its restrictive space. Moreover, it...
Availability of peripheral inserted central catheters in severe hemophilia patients with inhibitors
Youngshil Park
Clin Exp Pediatr. 2008;51(12):1359-1362.   Published online December 15, 2008
The most effective treatment strategy for patients with hemophilia is replacement therapy with FVIII or FIX concentrates, which usually requires long-term, uncomplicated venous access. However, central venous access device (CVADs, ports) insertion requires inpatient admission and general anesthesia, and presents some problems regarding health insurance coverage. Peripherally inserted central catheters (PICCs) were inserted in two severe hemophilia patients aged 7...
Wilms` tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: Successful treatment of the first case with bilateral Wilms` tumors in Korea
Kyung Sun Min, Hee Jo Baek, Dong Kyun Han, Ju Hee You, Tai Ju Hwang, Dong Deuk Kwon, Hoon Kook
Clin Exp Pediatr. 2008;51(12):1355-1358.   Published online December 15, 2008
Wilms` tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is caused by deletion of chromosome 11p13, including the Wilms` tumor (WT1) and aniridia gene (PAX6) loci. Here, we report the first case of WAGR syndrome in Korea; the patient was a 2-year-old girl with bilateral aniridia from birth who presented with abdominal distention and mental retardation. Cytogenetically, she had...
Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves
Ran Lee, Sochung Chung, Sung-Eun Koh, In Kyu Lee, Jongmin Lee
Clin Exp Pediatr. 2008;51(12):1350-1354.   Published online December 15, 2008
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5 (5q11.2-13.3). SMA has been considered as a pure lower motor neuron disorder, and a definitive diagnosis can be established by molecular genetic testing. Here, we describe two patients with severe...
Reflex seizures induced by micturition : A pediatric case and ictal EEG finding
Young Il Rho
Clin Exp Pediatr. 2008;51(12):1346-1349.   Published online December 15, 2008
Reflex seizures induced by micturition are rare, and there have been few reports on ictal electroencephalogram (EEG) findings. Here, we report a 7-year-old boy with secondarily generalized partial seizures induced by micturition. The seizures occurred every time he urinated. A few seconds after micturition begun, he toppled down with hand automatism followed by a secondarily generalized tonic posture and loss...
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 Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene
Mee Rim Park, Jung Min Ko, Chong-Keun Cheon, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2008;51(11):1236-1240.   Published online November 15, 2008
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with...
A case of imipramine induced toxicity with Brugada electrocardiographic pattern in a toddler
Woo-Yeon Choi, Soo-Min Park, Ui-Jeong Han, Young-Nam Kim, Young-Kuk Cho, Jae-Sook Ma
Clin Exp Pediatr. 2008;51(11):1232-1235.   Published online November 15, 2008
Imipramine, a tricyclic antidepressant (TCA), is used for the treatment of non-polar depression and nocturnal enuresis in children in whom an organic pathology has been excluded, anxiety disorders, and neuropathic pain. Clinical toxicity following the treatment of TCAs, including imipramine, is well known. The anticholinergic effects initially present include a dry mouth, ileus, dilated pupils, urinary retention, and mild sinus...
A case of vancomycin-induced drug hypersensitivity syndrome
Kyung Sun Min, Woo Yeon Choi, Eun Song Song, Dong Kyun Han, Young Kuk Cho, Jae Sook Ma
Clin Exp Pediatr. 2008;51(11):1228-1231.   Published online November 15, 2008
Drug hypersensitivity syndrome (DHS) has rarely been reported in association with vancomycin treatment. Here, we describe an 11-year-old girl who developed fever and a maculopapular rash on day 18 of intravenous vancomycin for treatment of infective endocarditis. The patient presented with fever, a maculopapular skin rash, hepatitis, and acute renal failure caused by vancomycin-induced DHS. The symptoms resolved in less...
A case of restless legs syndrome in a child presenting with growing pains
Dong Soon Kim, Hong Beom Shin, Young Min Ahn
Clin Exp Pediatr. 2008;51(11):1222-1227.   Published online November 15, 2008
Restless legs syndrome (RLS) is a common neurological sleep disorder in adults characterized by the following diagnostic criteria: an urge to move that is usually associated with unpleasant sensations and symptoms that are worse at rest, relieved by movement, and most severe at night. The definite diagnosis of RLS in children is stricter and consists of self-description of leg discomfort...
Congenital hernia of the lung through the azygoesophageal recess
Young Seok Choi, Young Jun Son, Si Young Bae, Kyung Sun Min, Young Kuk Cho, Woo Yeon Choi, Young Youn Choi, Jae Sook Ma, Tai Ju Hwang
Clin Exp Pediatr. 2008;51(10):1123-1126.   Published online October 15, 2008
A lung hernia, defined as the protrusion of pulmonary tissue and pleural membranes through a defect in the thoracic wall, is a rare event. It can be congenital or acquired, and cervical, thoracic, or diaphragmatic in location. We report the rare occurrence of a congenital atraumatic lung herniation through the azygoesophageal recess. An 8-month-old male infant, who was born...
Coronary artery fistula associated with single coronary artery
Seong Man Kim, Min Seob Song, Kwang Hyun Cho, Chul Ho Kim
Clin Exp Pediatr. 2008;51(10):1118-1122.   Published online October 15, 2008
A case of a single coronary artery complicated with a coronary artery fistula (CAF) to the right ventricle is extremely rare, and its management strategy and prognosis are not clear. A 5-year-old boy was hospitalized for evaluation of a continuous heart murmur. Transthoracic echocardiography suggested a CAF to the right ventricle, with an enlarged left coronary artery. Cardiac catheterization...
Kawasaki disease presenting as retropharyngeal abscess
Sung Yoon Cho, Hye Kyung Cho, Ky Young Cho, Hae Soon Kim, Sejung Sohn
Clin Exp Pediatr. 2008;51(9):1023-1027.   Published online September 15, 2008
A group of patients with Kawasaki disease (KD) initially present with cervical lymphadenitis or deep neck infection. These unusual KD presentations lead to unnecessary antibiotic therapy or surgical intervention, thereby delaying intravenous immunoglobulin treatment and increasing the risk of coronary artery damage. We present four KD patients whose initial presentations mimicked a retropharyngeal abscess. Nonsuppurative cervical lymphadenitis or suspected neck...
A case of testicular adrenal rest tumor in a male child with congenital adrenal hyperplasia
Joo Hwa Kim, Kyong Ah Yun, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2008;51(9):1018-1022.   Published online September 15, 2008
Testicular adrenal rest tumors are a well-known complication in male patients with congenital adrenal hyperplasia. Corticosteroid suppressive therapy usually results in the regression of these tumors. We describe a patient with 21-hydroxylase deficiency who developed bilateral testicular masses. Despite steroid suppressive therapy, the tumors did not regress and hormonal control was poor. Consequently, bilateral partial orchiectomies were performed.
A case of acute respiratory distress syndrome associated with congenital H-type tracheoesophageal fistula and gastroesophageal reflux
Heewon Chueh, Myo Jing Kim, Jin-A Jung
Clin Exp Pediatr. 2008;51(8):892-895.   Published online August 15, 2008
H-type tracheoesophageal fistula (TEF) is extremely rare in infants and children, and clinical manifestations of this condition are diverse based on its severity. Some cases of congenital TEF diagnosed in adulthood have been reported, which indicate the difficulty of early diagnosis of this disease. Gastroesophageal reflux (GER) may induce chronic aspiration, pulmonary aspiration, apparent life-threatening events, and failure to thrive....
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...
A case of congenital vallecular cyst associated with gastroesophageal reflux presenting with stridor, feeding cyanosis, and failure to thrive
Mi Ae Yang, Min Jae Kang, Jeana Hong, Seung Han Shin, Sang Duk Kim, Ee-Kyung Kim, Han-Suk Kim, Jung-Hwan Choi, Tack Kyun Kwon, In-One Kim
Clin Exp Pediatr. 2008;51(7):775-779.   Published online July 15, 2008
Vallecular cyst is an uncommon but potentially dangerous condition causing stridor and has been associated with sudden airway obstruction resulting in death due to its anatomical location in neonates. It may also present with various degrees of feeding problems resulting in failure to thrive. When a vallecular cyst is suspected clinically, endoscopic laryngoscopy is necessary to visualize it. Other conditions...
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...
Supraventricular tachycardia in a neonate with cardiac rhabdomyoma and tuberous sclerosis
In Kug Bang, Yeo Hyang Kim, Chun Soo Kim, Sang Lak Lee, Tae Chan Kwon
Clin Exp Pediatr. 2008;51(7):766-770.   Published online July 15, 2008
Primary tumors of the heart are uncommon among pediatric patients. Rhabdomyoma is the most frequent cardiac tumor in infants and children, which is commonly associated with tuberous sclerosis. Tuberous sclerosis is a neurocutaneous syndrome affecting the brain, heart, skin, and other organs. Cardiac rhadomyomas are reported in 50-64% of infants with tuberous sclerosis. Tuberous sclerosis involves multiple locations in the...
A case of subcutaneous paragonimiasis presented with pleural effusion
Soo Young Kim, Sun Ju Park, Si Young Bae, Young Kuk Cho, Chan Jong Kim, Young Jong Woo, Young Youn Choi, Jae Sook Ma, Tai Ju Hwang
Clin Exp Pediatr. 2008;51(7):760-765.   Published online July 15, 2008
Paragonimiasis is a parasitic infection that occurs following the ingestion of infectious Paragonimus metacercariae from crabs or crayfish. Pulmonary paragonimiasis is the most common clinical manifestation of this infection, but several ectopic paragonimiasis cases have also been reported. Among them, cases of subcutaneous paragonimiasis are rare, especially in children. We report a case of subcutaneous paragonimiasis of the right abdominal...
A case of recurrent respiratory infection resulting from a congenital anomaly of the bronchial tree tracheal bronchus
Ah-Reum Choi, Sun-Hee Choi, Seong-Wan Kim, Dong-Wook Sung, Yeong-Ho Rha
Clin Exp Pediatr. 2008;51(6):660-664.   Published online June 15, 2008
The term tracheal bronchus refers to an abnormal bronchus that comes directly off of the lateral wall of the trachea (above the carina) and supplies ventilation to the upper lobe. Tracheal bronchi occur almost exclusively on the right trachea and are associated with other congenital anomalies. In addition, tracheai bronchus may be related to other inflammatory conditions with persistent wheezing,...
Intestinal pseudo-obstruction as the initial presentation of systemic lupus erythematosus in a 13-year-old girl
Ky Young Cho, Tae Young Khil, Hye Mi Ahn, Sun Wha Lee, Jeong Wan Seo
Clin Exp Pediatr. 2008;51(6):655-659.   Published online June 15, 2008
Intestinal pseudo-obstruction (IPO) is a rare and poorly understood manifestation of systemic lupus erythematosus (SLE), especially in children. The characteristic clinical feature of IPO is obstruction without an identifiable obstructive lesion. The authors a 13-year-old girl whose first symptom of SLE was IPO. The patient presented with a 3-day history of nausea, bilious vomiting, abdominal distention, and no bowel movement....
A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis
Ju Young Lee, Jeong Ok Shim, Hye Ran Yang, Ju Young Chang, Choong Ho Shin, Jae Sung Ko, Jeong Kee Seo, Woo Sun Kim, Gyeong Hoon Kang, Jeong Han Song, Jong Won Kim
Clin Exp Pediatr. 2008;51(6):650-654.   Published online June 15, 2008
Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which...
A case of Hallermann-Streiff syndrome with aphakia
Myung Chul Lee, Im Jeong Choi, Jin Wha Jung
Clin Exp Pediatr. 2008;51(6):646-649.   Published online June 15, 2008
Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with aphakia. The syndrome is characterized by a bird-like face, dental abnormalities, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and proportionate dwarfism. A brief review of the literature was conducted.
A case of two sisters births from mother with phenylketonuria lacking mental retardation
Chang-Seok Ki, Jin Kyung Kim
Clin Exp Pediatr. 2008;51(5):546-550.   Published online May 15, 2008
In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals­like the mother of this case­who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels....
A case of Kawasaki disease preceding a retropharyngeal abscess
Hee Ok Park, Jae Woo Lim, Eun Jung Cheon, Kyung Ok Ko
Clin Exp Pediatr. 2008;51(5):542-545.   Published online May 15, 2008
Epidural hematoma (EDH) 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 suggested. Although many epidural hematomas require surgical evacuation rather than non-surgical management, the conservatiob or aspiration of hematoma have been attempted. In the case...