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The first pediatric case of tularemia in Korea: manifested with pneumonia and possible infective endocarditis
Jung Sook Yeom, Kyuyol Rhie, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2015;58(10):398-401.   Published online October 21, 2015

Tularemia is a potentially severe zoonotic disease caused by Francisella tularensis. A lack of awareness about tularemia can be embarrassing and could result in delayed treatment because of improper diagnosis. The diagnosis of tularemia is difficult, because the infections are rare and the clinical spectrum is broad. As only 1 adult case has been reported in Korea thus far, pediatricians...

Hemophagocytic lymphohistiocytosis diagnosed by brain biopsy
Hee Young Ju, Che Ry Hong, Sung Jin Kim, Ji Won Lee, Hyery Kim, Hyoung Jin Kang, Kyung Duk Park, Hee Young Shin, Jong-Hee Chae, Ji Hoon Phi, Jung-Eun Cheon, Sung-Hye Park, Hyo Seop Ahn
Clin Exp Pediatr. 2015;58(9):358-361.   Published online September 21, 2015

Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever, splenomegaly, jaundice, and pathologic findings of hemophagocytosis in bone marrow or other tissues such as the lymph nodes and liver. Pleocytosis, or the presence of elevated protein levels in cerebrospinal fluid, could be helpful in diagnosing HLH. However, the pathologic diagnosis of the brain is not included in the diagnostic criteria for this...

Parry-Romberg syndrome with ipsilateral hemipons involvement presenting as monoplegic ataxia
Yun-Jin Lee, Kee-Yang Chung, Hoon-Chul Kang, Heung Dong Kim, Joon Soo Lee
Clin Exp Pediatr. 2015;58(9):354-357.   Published online September 21, 2015

Parry-Romberg syndrome (PRS) is a rare, acquired disorder characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by cutaneous induration. It is sometimes accompanied by ipsilateral brain lesions and neurological symptoms. Here we present the case of a 10-year-old girl with right-sided PRS and recurrent monoplegic ataxia of the...

De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Ha-Su Kim, Jin-Yeong Han, Myo-Jing Kim
Clin Exp Pediatr. 2015;58(8):313-316.   Published online August 21, 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with...

Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation
Sung Yeon Ahn, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2015;58(8):309-312.   Published online August 21, 2015

Permanent neonatal diabetes mellitus refers to diabetes that occurs before the age of 6 months and persists through life. It is a rare disorder affecting one in 0.2-0.5 million live births. Mutations in the gene KCNJ11, encoding the subunit Kir6.2, and ABCC8, encoding SUR1 of the ATP-sensitive potassium (KATP) channel, are the most common causes of permanent neonatal diabetes mellitus....

Hypopituitarism and Legg-Calve-Perthes disease related to difficult delivery
Veysel Nijat Baş, Salih Uytun, Ümit Erkan Vurdem, Yasemin Altuner Torun
Clin Exp Pediatr. 2015;58(7):270-273.   Published online July 22, 2015

Legg-Calve-Perthes (LCP) disease is characterized by idiopathic avascular osteonecrosis of the epiphysis of the femur head. The main factor that plays a role in the etiology of the disease is decreased blood flow to the epiphysis. Many predisposing factors have been suggested in the etiology of LCP disease, and most have varying degrees of effects. Here we present the case...

Graves disease following rabbit antithymocyte globulin treatment of severe aplastic anemia in a Korean child
In Su Choi, Han Kyul Kim, Dong Kyun Han, Hee Jo Baek, Hae In Jang, Chan Jong Kim, Hoon Kook
Clin Exp Pediatr. 2015;58(7):267-269.   Published online July 22, 2015

Antithymocyte globulin (ATG) is used as an immunosuppressive treatment (IST) to deplete clonal suppressor T cells in patients with severe aplastic anemia (SAA). The depletion of suppressor T cells by ATG may affect the activation of B cells, which results in an increased risk for autoimmune conditions. A 12-year-old boy was diagnosed with idiopathic SAA. As he did not have...

Hepatic glycogenosis in type 1 diabetes mellitus mimicking Mauriac syndrome
In Ah Jung, Won Kyoung Cho, Yeon Jin Jeon, Shin Hee Kim, Kyoung Soon Cho, So Hyun Park, Min Ho Jung, Byung-Kyu Suh
Clin Exp Pediatr. 2015;58(6):234-237.   Published online June 22, 2015

Hepatic glycogenosis in type 1 diabetes mellitus (DM) can be caused by poor glycemic control due to insulin deficiency, excessive insulin treatment for diabetic ketoacidosis, or excessive glucose administration to control hypoglycemia. Mauriac syndrome, which is characterized by hepatomegaly due to hepatic glycogenosis, growth retardation, delayed puberty, and Cushingoid features, is a rare diabetic complication. We report a case of...

A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
Sadık Yurttutan, Mehmet Yekta Oncel, Nursel Yurttutan, Halil Degirmencioglu, Nurdan Uras, Ugur Dilmen
Clin Exp Pediatr. 2015;58(6):230-233.   Published online June 22, 2015

Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a...

Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses
Soo Jin Chang, Ji Hyun Lee, Shin Hye Kim, Joon Soo Lee, Heung Dong Kim, Joon Won Kang, Young Mock Lee, Hoon-Chul Kang
Clin Exp Pediatr. 2015;58(5):194-198.   Published online May 22, 2015

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing symmetric sensorimotor disorder presumed to occur because of immunologic antibody-mediated reactions. To understand the clinical courses of CIDP, we report variable CIDP courses in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval. Four patients who were diagnosed with acute-onset and relapsing CIDP courses at...

Case of seropositive allergic bronchopulmonary aspergillosis in a 10-year-old girl without previously documented asthma
Jeong Eun Shin, Jae Won Shim, Deok Soo Kim, Hae Lim Jung, Moon Soo Park, Jung Yeon Shim
Clin Exp Pediatr. 2015;58(5):190-193.   Published online May 22, 2015

Allergic bronchopulmonary aspergillosis (ABPA) is a hypersensitivity lung disease due to bronchial colonization of Aspergillus fumigatus that occurs in susceptible patients with asthma or cystic fibrosis. A 10-year-old girl was referred to the Department of Pediatric Pulmonology for persistent consolidations on chest radiography. Pulmonary consolidations were observed in the right upper and left lower lobes and were not resolved with...

Urosepsis and postrenal acute renal failure in a neonate following circumcision with Plastibell device
Meena Kalyanaraman, Derrick McQueen, Joseph Sykes, Tej Phatak, Farhaan Malik, Preethi S. Raghava
Clin Exp Pediatr. 2015;58(4):154-157.   Published online April 22, 2015

Plastibell is one of the three most common devices used for neonatal circumcision in the United States, with a complication rate as low as 1.8%. The Plastibell circumcision device is commonly used under local anesthesia for religious circumcision in male neonates, because of cosmetic reasons and ease of use. Occasionally, instead of falling off, the device may get buried under...

Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C
Keun Hee Choi, Choong Ho Shin, Sei Won Yang, Hae Il Cheong
Clin Exp Pediatr. 2015;58(4):148-153.   Published online April 22, 2015

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the...

Massive pulmonary hemorrhage in enterovirus 71-infected hand, foot, and mouth disease
Dong Seong Lee, Young Il Lee, Jeong Bae Ahn, Mi Jin Kim, Jae Hyun Kim, Nam Hee Kim, Jong Hee Hwang, Dong Wook Kim, Chong Guk Lee, Tae Won Song
Clin Exp Pediatr. 2015;58(3):112-115.   Published online March 20, 2015

Hand, foot, and mouth disease (HFMD) is an acute, mostly self-limiting infection. Patients usually recover without any sequelae. However, a few cases are life threatening, especially those caused by enterovirus 71 (EV71). A 12-month-old boy was admitted to a primary hospital with high fever and vesicular lesions of the mouth, hands, and feet. After 3 days, he experienced 3 seizure...

DiGeorge syndrome who developed lymphoproliferative mediastinal mass
Kyu Yeun Kim, Ji Ae Hur, Ki Hwan Kim, Yoon Jin Cha, Mi Jung Lee, Dong Soo Kim
Clin Exp Pediatr. 2015;58(3):108-111.   Published online March 20, 2015

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing...

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