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Case Report
New daily persistent headache with isolated sphenoiditis in children
Jeongho Lee, Minhee Rhee, Eun Sook Suh
Clin Exp Pediatr. 2015;58(2):73-76.   Published online February 28, 2015

Isolated sphenoid sinusitis is a rare disease in children, and its symptoms are often nonspecific and confusing. Rarely, severe headache can be the first or only symptom of isolated sphenoid sinusitis. New daily persistent headache (NDPH) is a form of chronic daily headache that may have features of both migraines and tension-type headaches. NDPH is difficult to diagnose and requires...

Development of multifocal nodular lesions of a liver mimicking hepatic metastasis, following resection of an insulinoma in a child
Sook Young Jung, Ben Kang, Yoon Mee Choi, Jun Mee Kim, Soon Ki Kim, Young Se Kwon, Ji Eun Lee
Clin Exp Pediatr. 2015;58(2):69-72.   Published online February 28, 2015

Insulinoma, which arises from insulin-producing pancreatic beta cells, is a rare tumor in children. Only 5%-10% of insulinomas are malignant and undergo metastasis. We report a case of an 11-year-old girl who experienced hypoglycemia-related seizures induced by an insulinoma; after resection of the primary tumor, she developed hepatic focal nodular hyperplasia (FNH). Laboratory test results indicated marked hypoglycemia with hyperinsulinemia....

A rare type of single coronary artery with right coronary artery originating from the left circumflex artery in a child
Jong Min Kim, Ok Jeong Lee, I-Seok Kang, June Huh, Jinyoung Song, Geena Kim
Clin Exp Pediatr. 2015;58(1):37-40.   Published online January 31, 2015

The presence of a single coronary artery is a rare congenital anomaly; such patients often present with severe myocardial ischemia. We experienced the case of a 13-year-old girl with the right coronary artery originating from the left circumflex artery. She visited our Emergency Department owing to severe chest pain; her cardiac enzyme levels were elevated, but her initial electrocardiogram (ECG)...

Neonatal invasive Streptococcus gallolyticus subsp. pasteurianus infection with delayed central nervous system complications
Jung-Weon Park, So-Hee Eun, Eui-Chong Kim, Moon-Woo Seong, Yun-Kyung Kim
Clin Exp Pediatr. 2015;58(1):33-36.   Published online January 31, 2015

Group D streptococci are known to cause newborn septicemia and meningitis, but the Streptococcus bovis group strains rarely cause serious neonatal infections in Korea. Central nervous system (CNS) complications of neonatal S. bovis group infection have rarely been reported. In adults, S. bovis group strains cause bacteremia and endocarditis, and are associated with gastrointestinal malignancy. However, only a few studies...

A pediatric case of Bickerstaff's brainstem encephalitis
Ju Yi Park, Kyong Og Ko, Jae Woo Lim, Eun Jung Cheon, Jung Min Yoon, Hyo Jeong Kim
Clin Exp Pediatr. 2014;57(12):542-545.   Published online December 31, 2014

Bickerstaff's brainstem encephalitis is characterized by ophthalmoplegia, ataxia, and disturbance of consciousness. It is similar to Miller Fisher syndrome, a variant of Guillain-Barre syndrome, in that they share features such as ophthalmoplegia and ataxia. The difference is that patients with Bickerstaff's brainstem encephalitis have impaired consciousness, whereas patients with Miller Fisher syndrome have alert consciousness and areflexia. Here, we report...

Necrotizing fasciitis and streptococcal toxic shock syndrome secondary to varicella in a healthy child
Byung Ok Kwak, Min Jung Lee, Hye Won Park, Min Kyung Song, Sochung Chung, Kyo Sun Kim
Clin Exp Pediatr. 2014;57(12):538-541.   Published online December 31, 2014

Varicella is usually considered to be a benign disease in healthy children; however, serious complications can occur such as necrotizing fasciitis and toxic shock syndrome. We describe a 38-month-old girl with necrotizing fasciitis and streptococcal toxic shock syndrome following varicella. She was previously healthy and vaccinated against varicella at 12 months of age. She had been diagnosed with varicella three...

Multifocal kaposiform hemangioendothelioma of soft tissue with bilateral pulmonary involvement in an adolescent
Roxana Azma, Samin Alavi, Maliheh Khoddami, Mohammad Taghi Arzanian, Armin Nourmohammad, Sadaf Esteghamati
Clin Exp Pediatr. 2014;57(11):500-504.   Published online November 30, 2014

Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor of intermediate malignancy with resemblance to Kaposi sarcoma. It occurs predominantly in pediatric age groups as a cutaneous lesion with focal infiltration into the adjacent soft tissue and bone. Although visceral involvement is very uncommon, several cases with bone, retroperitoneal, or mediastinal involvement have been described. KHE has been reported...

Wernicke's encephalopathy in a child with high dose thiamine therapy
So Won Park, Yoon Young Yi, Jung Woo Han, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang
Clin Exp Pediatr. 2014;57(11):496-499.   Published online November 30, 2014

Wernicke's encephalopathy is an acute neurological disorder characterized by mental confusion, oculomotor dysfunction, and ataxia. It has been reported in individuals with alcohol dependence, hyperemesis gravidarum, and prolonged parenteral nutrition without vitamin supplementation. Here we present the case of a 13-year-old male patient with neuroblastoma and a history of poor oral intake and nausea for 3 months. After admission, he...

Inhaled iloprost for the treatment of patient with Fontan circulation
Yong Hyun Kim, Moon Hee Chae, Deok Young Choi
Clin Exp Pediatr. 2014;57(10):461-463.   Published online October 31, 2014

Decreased exercise capacity after Fontan surgery is relatively common and the failure of the Fontan state gradually increases with age. However, there is no further treatment for patients with Fontan circulation. Pulmonary vasodilation therapy is an effective method to solve this problem because pulmonary vascular resistance is a major factor of the Fontan problem. Inhaled iloprost is a chemically stable...

Overlapping Guillain-Barré syndrome and Bickerstaff's brainstem encephalitis associated with Epstein Barr virus
Young Il Rho
Clin Exp Pediatr. 2014;57(10):457-460.   Published online October 31, 2014

A flaccid tetraparesis in Bickerstaff's brainstem encephalitis (BBE) is presumed to be a sign of overlapping Guillain-Barré syndrome (GBS). In addition, BBE and Fisher syndrome, which are clinically similar and are both associated with the presence of the immunoglobulin G anti-GQ1b antibody, represent a specific autoimmune disease with a wide spectrum of symptoms that include ophthalmoplegia and ataxia. A 2-year-old...

Chronic Epstein-Barr virus infection causing both benign and malignant lymphoproliferative disorders
Yoojin Kwun, Soo-Jong Hong, Jin Seong Lee, Da Hye Son, Jong Jin Seo
Clin Exp Pediatr. 2014;57(9):420-424.   Published online September 30, 2014

The Epstein-Barr virus (EBV) is oncogenic and can transform B cells from a benign to a malignant phenotype. EBV infection is also associated with lymphoid interstitial pneumonia (LIP). Here, we report the case of a 14-year-old boy who was diagnosed with a latent EBV infection and underlying LIP, without any associated immunodeficiency. He had been EBV-seropositive for 8 years. The...

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2014;57(9):416-419.   Published online September 30, 2014

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0...

A pediatric case of Brugada syndrome diagnosed by fever-provoked ventricular tachycardia
Geena Kim, Ye-Chan Kyung, I-Seok Kang, Jinyoung Song, June Huh, Young Keun On
Clin Exp Pediatr. 2014;57(8):374-378.   Published online August 25, 2014

Brugada syndrome is a rare channelopathy associated with the SCN5A gene that causes fatal ventricular arrhythmias. This case of Brugada syndrome, in which ventricular tachycardia (VT) was provoked by high fever, is the first report in a Korean child. The boy had retinoblastoma of his left eye diagnosed at 16 months of age. After chemotherapy, he contracted a catheter-related infection...

Use of intravenous immunoglobulin in a disseminated varicella infection in an immunocompromised child
Jae Hong Kim, Dae Hyun Kwon, E Young Bae, Seung Beom Han, Jae Wook Lee, Nack Gyun Chung, Dae Chul Jeong, Bin Cho, Jin Han Kang, Hack Ki Kim
Clin Exp Pediatr. 2014;57(8):370-373.   Published online August 25, 2014

Varicella-zoster virus infection can lead to severe illness in immunocompromised patients. Further the mortality rate of disseminated varicella infection is extremely high particularly in immunocompromised children. We report a case of disseminated varicella infection in a child with acute lymphoblastic leukemia who was receiving chemotherapy, but was initially admitted with only for acute abdominal pain. The patient rapidly developed severe...

Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22
Eun Hae Cho, Jae Bok Park, Jin Kyung Kim
Clin Exp Pediatr. 2014;57(7):333-336.   Published online July 23, 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The...

Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
Sun Hee Lee, Yong Hee Hong
Clin Exp Pediatr. 2014;57(7):329-332.   Published online July 23, 2014

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although...

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea
Joo Hyun Cho, Eun Song Song, Hee Na Kim, Burm Seok Oh, Young Youn Choi
Clin Exp Pediatr. 2014;57(6):292-296.   Published online June 30, 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently...

Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea
Chong Kun Cheon, Su Yung Kim, Jae-Ho Yoo
Clin Exp Pediatr. 2014;57(6):287-291.   Published online June 30, 2014

Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of the circle of Willis and collateral vessel formation at the base of the brain. Although relationships between Graves' disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence of the two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patients with...

Gastrointestinal hemangioma in childhood: a rare cause of gastrointestinal bleeding
Eon Chul Han, Soo-Hong Kim, Hyun-Young Kim, Sung-Eun Jung, Kwi-Won Park
Clin Exp Pediatr. 2014;57(5):245-249.   Published online May 31, 2014

Gastrointestinal (GI) hemangiomas are relatively rare benign vascular tumors. The choice of an appropriate diagnostic method depends on patient age, anatomic location, and presenting symptoms. However, GI hemangiomas are not a common suspected cause of GI bleeding in children because of their rarity. Based on medical history, laboratory results, and imaging study findings, the patient could be treated with either...

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee
Clin Exp Pediatr. 2014;57(5):240-244.   Published online May 31, 2014

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly...

Pulmonary hemorrhage in pediatric lupus anticoagulant hypoprothrombinemia syndrome
Ji Soo Kim, Min Jae Kim, E Young Bae, Dae Chul Jeong
Clin Exp Pediatr. 2014;57(4):202-205.   Published online April 30, 2014

Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS), a very rare disease that is caused by the presence of antifactor II antibodies, is usually counterbalanced by the prothrombotic effect of lupus anticoagulant (LAC). Patients with LAHPS are treated using fresh frozen plasma, steroids, immunosuppressive agents, and immunoglobulins for managing the disease and controlling hemorrhages. Notably, steroids are the important treatment for treating hypoprothrombinemia and...

Percutaneous ultrasound-guided thrombin injection is effective even in infants with external iliac artery pseudoaneurysms
Min-Jung Cho, Ung-Bae Jeon, Ki-Seok Choo, Hyoung-Doo Lee
Clin Exp Pediatr. 2014;57(4):199-201.   Published online April 30, 2014

Iatrogenic pseudoaneurysms are extremely rare in children. Conventional management of pseudoaneurysms in adults has included surgical repair, ultrasound-guided compression, and more recently, endovascular embolization. However, in infants and children, there is little information regarding the applicability of such treatment modalities, which have been effective in adults, because of its rarity. Here, we present the case of a 6-month-old infant who...

Toxic epidermal necrolysis induced by lamotrigine treatment in a child
Youngsuk Yi, Jeong Ho Lee, Eun Sook Suh
Clin Exp Pediatr. 2014;57(3):153-156.   Published online March 31, 2014

Toxic epidermal necrolysis is an unpredictable and severe adverse drug reaction. In toxic epidermal necrolysis, epidermal damage appears to result from keratinocyte apoptosis. This condition is triggered by many factors, principally drugs such as antiepileptic medications, antibiotics (particularly sulfonamide), nonsteroidal anti-inflammatory drugs, allopurinol, and nevirapine. Lamotrigine has been reported potentially cause serious cutaneous reactions, and concomitant use of valproic acid...

Congenital muscular dystrophy type 1A with residual merosin expression
Hyo Jeong Kim, Young-Chul Choi, Hyung Jun Park, Young-Mock Lee, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang
Clin Exp Pediatr. 2014;57(3):149-152.   Published online March 31, 2014

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin α2 (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin α2)-deficient skeletal muscles. However, the...

Shiga toxin-associated hemolytic uremic syndrome complicated by intestinal perforation in a child with typical hemolytic uremic syndrome
Hye Jin Chang, Hwa Young Kim, Jae Hong Choi, Hyun Jin Choi, Jae Sung Ko, Il Soo Ha, Hae Il Cheong, Yong Choi, Hee Gyung Kang
Clin Exp Pediatr. 2014;57(2):96-99.   Published online February 24, 2014

Hemolytic uremic syndrome (HUS) is one of the most common causes of acute renal failure in childhood and is primarily diagnosed in up to 4.5% of children who undergo chronic renal replacement therapy. Escherichia coli serotype O157:H7 is the predominant bacterial strain identified in patients with HUS; more than 100 types of Shiga toxin-producing enterohemorrhagic E. coli (EHEC) subtypes have...

Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum
Kirtisudha Mishra, Shilpy Singla, Suvasini Sharma, Renu Saxena, Vineeta Vijay Batra
Clin Exp Pediatr. 2014;57(2):91-95.   Published online February 24, 2014

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum....

A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis
Jae Yeon Kim, Jeong Hee Shin, Se In Sung, Jin Kyu Kim, Ji Mi Jung, So Yoon Ahn, Eun Sun Kim, Ja-Young Seo, Eun-Sook Kang, Sun-Hee Kim, Hee-Jin Kim, Yun Sil Chang, Won Soon Park
Clin Exp Pediatr. 2014;57(1):50-53.   Published online January 31, 2014

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with...

Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome
Yeonkyung Kim, Ho-Seok Lee, Jung-Seok Yu, Kangmo Ahn, Chang-Seok Ki, Jihyun Kim
Clin Exp Pediatr. 2014;57(1):46-49.   Published online January 31, 2014

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located...

Moyamoya syndrome occurred in a girl with an inactive systemic lupus erythematosus
Yun-Jin Lee, Gyu Min Yeon, Sang Ook Nam, Su Yung Kim
Clin Exp Pediatr. 2013;56(12):545-549.   Published online December 20, 2013

We report the case of a 17-year-old Korean girl with systemic lupus erythematosus (SLE) who presented with sudden weakness of the right-sided extremities and dysarthria. Oral prednisolone was being taken to control SLE. Results of clinical and laboratory examinations did not show any evidence of antiphospholipid syndrome or thromboembolic disease nor SLE activity. Cerebral angiography showed stenosis of the left...

Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome
Kyung Yeon Lee, Kun-Soo Lee, Young Cheol Weon
Clin Exp Pediatr. 2013;56(12):540-543.   Published online December 20, 2013

Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down syndrome with multiple neurologic conditions is...

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