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Case Report
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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