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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...

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