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Case Report
Stroke after percutaneous transhepatic variceal obliteration of esophageal varix in Caroli syndrome
Yoo Min Lee, Yoon Lee, Yon Ho Choe
Clin Exp Pediatr. 2013;56(11):500-504.   Published online November 27, 2013

Here we present the case of an 11-year-old female patient diagnosed with Caroli syndrome, who had refractory esophageal varices. The patient had a history of recurrent bleeding from esophageal varices, which was treated with endoscopic variceal ligation thrice over a period of 2 years. However, the bleeding was not controlled. When the patient finally visited the Emergency Department, the hemoglobin...

Liver abscess due to Klebsiella pneumoniae in a healthy 12-year-old boy
Da Hye Yoon, Yeon Jin Jeon, E Young Bae, Dae Chul Jeong, Jin Han Kang
Clin Exp Pediatr. 2013;56(11):496-499.   Published online November 27, 2013

Pyogenic liver abscess (PLA) is rare in healthy children. We report a case of PLA in an immunocompetent 12-year-old boy. Percutaneous catheter drainage was performed for the abscess. In addition, parenteral antibiotics were administered for 3 weeks. Klebsiella pneumoniae was detected in the culture of blood and drained fluid. Here, we present this case and a brief review of the...

Cystic fibrosis of pancreas and nephrotic syndrome: a rare association
Selvi Kelekçi, Müsemma Karabel, Aydın Ece, Velat Şen, Ali Güneş, İlyas Yolbaş, Cahit Şahin
Clin Exp Pediatr. 2013;56(10):456-458.   Published online October 31, 2013

Cystic fibrosis (CF) is a genetic disease with autosomal recessive inheritance and is common in Caucasian people. The prevalence of this disease is between 1/2,000 and 1/3,500 live births, and the incidence varies between populations. Although the CF transmembrane conductance regulator gene is expressed in the kidneys, renal involvement is rare. With advances in the treatment of CF, life expectancy...

Parotid sialolithiasis in a two-year-old boy
Do Hoon Kim, Woo Sun Song, Yeong Jin Kim, Won Duck Kim
Clin Exp Pediatr. 2013;56(10):451-455.   Published online October 31, 2013

Sialolithiasis is caused by the obstruction of a salivary gland or its excretory duct by the formation of calcareous concretions or sialoliths; this results in salivary ectasia and provokes subsequent dilation of the salivary gland. Sialolithiasis is relatively common, accounting for 30% of salivary diseases; however, it is rarely observed in childhood. This case report describes a 2-year-old male patient...

Mycoplasma pneumoniae associated stroke in a 3-year-old girl
Gun-Ha Kim, Won Hee Seo, Bo-Kyung Je, So-Hee Eun
Clin Exp Pediatr. 2013;56(9):411-415.   Published online September 30, 2013

Infectious diseases precede a significant proportion of acute ischemic strokes in children. Here, we report a case of acute ischemic stroke in a 3-year-old girl with a Mycoplasma pneumonia-associated respiratory tract infection. She developed an acquired prothrombotic state of protein S deficiency and had increased fibrinogen and fibrinogen degradation product levels and increased titer of antinuclear antibodies. However, these conditions...

Klebsiella pneumoniae liver abscess in an immunocompetent child
Jang-Mi Kwon, Hye Lim Jung, Jae Won Shim, Deok Soo Kim, Jung Yeon Shim, Moon Soo Park
Clin Exp Pediatr. 2013;56(9):407-410.   Published online September 30, 2013

Klebsiella pneumoniae has emerged as a leading pathogen that causes pyogenic liver abscesses (PLAs) in Korea. K. pneumoniae liver abscess (KLA) is potentially life threatening, and the diagnosis is difficult. In developed countries, PLA is rarely observed in children and is frequently associated with disorders of granulocyte function and previous abdominal infection. We observed a case of KLA in a...

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
Clin Exp Pediatr. 2013;56(8):355-358.   Published online August 27, 2013

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few...

Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(8):351-354.   Published online August 27, 2013

Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such...

Severe hypermagnesemia presenting with abnormal electrocardiographic findings similar to those of hyperkalemia in a child undergoing peritoneal dialysis
Won Kyoung Jhang, Yoon Jung Lee, Young A Kim, Seong Jong Park, Young Seo Park
Clin Exp Pediatr. 2013;56(7):308-311.   Published online July 19, 2013

In this report, we present a pediatric case of severe symptomatic hypermagnesemia resulting from the use of magnesium oxide as a laxative in a child undergoing continuous cyclic peritoneal dialysis for end-stage renal disease. The patient showed abnormal electrocardiography (ECG) findings, such as tall T waves, a widened QRS complex, and irregular conduction, which were initially misdiagnosed as hyperkalemia; later,...

Polyclonal gammopathy related to renal bleeding in a peritoneal dialysis patient
Eun-Mi Cho, Hye-Hyun Moon, Young-Ju Hwang, Seung-Jin Lee, Cheol Woo Ko, Min Hyun Cho
Clin Exp Pediatr. 2013;56(7):304-307.   Published online July 19, 2013

Polyclonal gammopathy represents the diffuse activation of B cells and is usually related to inflammation or immune-related diseases. However, the mechanisms leading to polyclonal gammopathy are essentially speculative. Generally, infectious, inflammatory, or various other reactive processes may be indicated by the presence of a broad-based peak or band in the gamma region on serum protein electrophoresis results. A 15-year-old girl,...

A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
Eu Kyoung Lee, Yeun-Joo Eem, Nack-Gyun Chung, Myung Shin Kim, Dae Chul Jeong
Clin Exp Pediatr. 2013;56(6):265-268.   Published online June 21, 2013

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case...

Severe dapsone hypersensitivity syndrome in a child
So Yoon Choi, Ho Yeon Hwang, Jung Hyun Lee, Jae Sun Park, Min Soo Jang
Clin Exp Pediatr. 2013;56(6):260-264.   Published online June 21, 2013

Dapsone (4,4'-diaminodiphenylsulfone, DDS), a potent anti-inflammatory agent, is widely used in the treatment of leprosy and several chronic inflammatory skin diseases. Dapsone therapy rarely results in development of dapsone hypersensitivity syndrome, which is characterized by fever, hepatitis, generalized exfoliative dermatitis, and lymphadenopathy. Here, we describe the case of an 11-year-old Korean boy who initially presented with high fever, a morbilliform...

Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation
Eun Sam Rho, Earl Kim, Hong Koh, Han-Wook Yoo, Beom Hee Lee, Gu-Hwan Kim
Clin Exp Pediatr. 2013;56(5):227-230.   Published online May 28, 2013

Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine-protease inhibitor, Kazal type 1 (SPINK1), cationic trypsinogen (PRSS1), and cystic fibrosis-transmembrane conductance regulator (CFTR) genes, or with structural disorders in the pancreaticobiliary ductal...

Liver transplantation in a child with acute liver failure resulting from drug rash with eosinophilia and systemic symptoms syndrome
Seung Min Song, Min Sung Cho, Seak Hee Oh, Kyung Mo Kim, Young Seo Park, Dae Yeon Kim, Sung Gyu Lee
Clin Exp Pediatr. 2013;56(5):224-226.   Published online May 28, 2013

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by a severe idiosyncratic reaction including rash and fever, often with associated hepatitis, arthralgias, lymph node enlargement, or hematologic abnormalities. The mortality rate is approximately 10%, primarily owing to liver failure with massive or multiple disseminated focal necrosis. Here, we report a case of a 14-year-old girl treated with...

Lung torsion after tracheoesophageal fistula repair in an infant
Eun Mi Yang, Eun Song Song, Hae in Jang, In Seok Jeong, Young Youn Choi
Clin Exp Pediatr. 2013;56(4):186-190.   Published online April 22, 2013

Lung torsion is a very rare event that has been reported in only 9 cases in the pediatric literature but has not yet been reported in Korean infants. We present a case of lung torsion after tracheoesophageal fistula repair in an infant. Bloody secretion from the endotracheal tube and chest radiographs and computed tomographic scan results indicated lung torsion. Emergency...

An unusual cause of duodenal perforation due to a lollipop stick
Mi Jin Kim, Jeong Meen Seo, Yoon Lee, Yoo Min Lee, Yon Ho Choe
Clin Exp Pediatr. 2013;56(4):182-185.   Published online April 22, 2013

Children have a natural tendency to explore objects with their mouths; this can result in the swallowing of foreign objects. Most ingested foreign bodies pass uneventfully through the gastrointestinal tract. However, some foreign bodies cause obstruction or perforation of the gastrointestinal tract, requiring surgical intervention. Perforation of the gastrointestinal tract may be associated with considerable morbidity and mortality. The most...

X-linked recessive myotubular myopathy with MTM1 mutations
Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(3):139-142.   Published online March 18, 2013

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We...

A girl with sternal malformation/vascular dysplasia association
Na Yong Lee, Hye Kyung Cho, Kyung-Hyo Kim, Eun Ae Park
Clin Exp Pediatr. 2013;56(3):135-138.   Published online March 18, 2013

Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth,...

Transvenous proximal closure of large congenital coronary arteriovenous fistula using the single Amplatzer vascular plug in a 3-year-old girl
Hae In Jang, Young Earl Choi, Hwa Jin Cho, Young Kuk Cho, Jae Sook Ma
Clin Exp Pediatr. 2013;56(2):90-93.   Published online February 25, 2013

Congenital coronary arteriovenous fistulas (CCAFs) are rare coronary artery abnormalities in which blood is shunted into a cardiac chamber or great vessel. If the fistula itself is large and tortuous, it is generally recommended to occlude the fistula to prevent several complications. In approaches of transcatheter occlusion, the transvenous approach is preferred over the transarterial approach. The transvenous approach would...

Retropharyngeal abscess coinfected with Staphylococcus aureus and Mycobacterium tuberculosis after rhinoviral infection in a 1-month-old infant
Jeong Hee Shin, Se In Sung, Jin Kyu Kim, Ji Mi Jung, Eun Sun Kim, Soo Han Choi, Yae Jean Kim, Kang Mo Ahn, Yun Sil Chang, Won Soon Park
Clin Exp Pediatr. 2013;56(2):86-89.   Published online February 25, 2013

A retropharyngeal abscess is a rare disease entity in young infants but can develop after nasopharyngeal viral infection. Group B Streptococcus and Staphylococcus aureus are the most common pathogens in young infants, however, Mycobacterium tuberculosis is very rare. We report the case of retropharyngeal abscess and coinfection with S. aureus and M. tuberculosis in a very young infant presenting with...

Secondary paroxysmal dyskinesia associated with 2009 H1N1 infection
Yun Jung Hur, Taegyu Hwang
Clin Exp Pediatr. 2013;56(1):42-44.   Published online January 29, 2013

Neurological complications associated with 2009 H1N1 infection in children have been reported and recognized worldwide. The most commonly reported neurological complications are seizures and encephalopathy. Secondary movement disorders are also associated with the infection, but such cases are rarely reported. Here, we describe the case of a 14-year-old boy with paroxysmal kinesigenic dyskinesia secondary to 2009 H1N1 infection, who presented...

Idiopathic acute eosinophilic pneumonia in a 14-month-old girl
Ha Neul Park, Bo Hyun Chung, Jung Eun Pyun, Kwang Chul Lee, Ji Tae Choung, Choon Hak Lim, Young Yoo
Clin Exp Pediatr. 2013;56(1):37-41.   Published online January 29, 2013

Idiopathic acute eosinophilic pneumonia (IAEP), characterized by acute febrile respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, is rarely reported in children. Diagnosis is based on an association of characteristic features including acute respiratory failure with fever, bilateral infiltrates on the chest X-ray, severe hypoxemia and bronchoalveolar lavage fluid >25% eosinophils or a predominant eosinophilic infiltrate in lung...

Cytomegalovirus-associated esophageal ulcer in an immunocompetent infant: When should ganciclovir be administered?
Hyo-Jeong Jang, Ae Suk Kim, Jin-Bok Hwang
Clin Exp Pediatr. 2012;55(12):491-493.   Published online December 20, 2012

Cytomegalovirus (CMV)-associated esophageal ulcer is rare in immunocompetent infants. The presence of inclusion bodies and immunohistochemical staining for CMV in biopsy specimens obtained during esophagogastroduodenoscopy (EGD) indicate that such ulcers occur because of CMV infection. A 7-week-old female infant who experienced frequent vomiting and feeding intolerance was diagnosed with a massive CMV-associated ulcer in the distal esophagus. The ulcer improved...

A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
Jon Soo Kim, Jinyu Park, Byung-Joo Min, Sun Kyung Oh, Jin Sun Choi, Mi Jung Woo, Jong-Hee Chae, Ki Joong Kim, Yong Seung Hwang, Byung Chan Lim
Clin Exp Pediatr. 2012;55(12):487-490.   Published online December 20, 2012

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could...

A case of Kikuchi-Fujimoto disease with autoimmune thyroiditis
Eun Ji Go, You Jin Jung, Seung Beom Han, Byung Kyu Suh, Jin Han Kang
Clin Exp Pediatr. 2012;55(11):445-448.   Published online November 23, 2012

Kikuchi-Fujimoto disease (KFD) is a benign self-limiting disease characterized by fever and lymphadenitis. The etiology and pathogenesis of KFD is unclear. However, two hypotheses have been suggested: a viral infection hypothesis and an autoimmune hypothesis. Several KFD patients with various types of autoimmune diseases have been reported, and these reports support the hypothesis for autoimmune pathogenesis of KFD. Here, we...

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
Ju Sun Heo, Ka Young Choi, Se Hyoung Sohn, Curie Kim, Yoon Joo Kim, Seung Han Shin, Jae Myung Lee, Juyoung Lee, Jin A Sohn, Byung Chan Lim, Jin A Lee, Chang Won Choi, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2012;55(11):438-444.   Published online November 23, 2012

Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant...

Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools
Eun Lee, Mi-Sun Yum, Hae-Won Choi, Han-Wook Yoo, Su Jeong You, Eun-Hye Lee, Tae-Sung Ko
Clin Exp Pediatr. 2012;55(10):397-402.   Published online October 29, 2012

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental...

Complete trisomy 14 mosaicism: first live-born case in Korea
Yun Jung Hur, Taegyu Hwang
Clin Exp Pediatr. 2012;55(10):393-396.   Published online October 29, 2012

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive...

Neuro-Behçet disease presented diplopia with hemiparesis following minor head trauma
Ja Yun Choi, Sun Young Park, In Ok Hwang, Young Hwan Lee
Clin Exp Pediatr. 2012;55(9):354-357.   Published online September 14, 2012

Behçet disease (BD) is rare in childhood. We report a 9-year-old boy with neuro-Behçet disease who presented diplopia and weakness on the left side after a cerebral concussion. Brain magnetic resonance imaging (MRI) revealed hyperintensity of the right mesodiencephalic junction on T2-weighted and fluid attenuated inversion recovery images. Prednisolone administration resulted in complete remission and normalization of abnormal MRI finding....

A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim, Byung Chan Lim, Hui Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae
Clin Exp Pediatr. 2012;55(9):350-353.   Published online September 14, 2012

An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons...

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