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Case Report
A case of de novo duplication of 15q24-q26.3
Eun Young Kim, Yu Kyong Kim, Mi Kyoung Kim, Ji Mi Jung, Ga Won Jeon, Hye Ran Kim, Jong Beom Sin
Clin Exp Pediatr. 2011;54(6):267-271.   Published online June 30, 2011

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical...

A sclerosing stromal tumor of the ovary with masculinization in a premenarchal girl
Soo Min Park, Young Nam Kim, Young Jong Woo, Ho Sun Choi, Ji Shin Lee, Suk Hee Heo, Chan Jong Kim
Clin Exp Pediatr. 2011;54(5):224-227.   Published online May 31, 2011

A sclerosing stromal tumor of the ovary is an extremely rare benign tumor; it usually is found during the second and third decades of life. Patients present with pelvic pain or a palpable abdominal mass. Hormonal effects such as masculinization are uncommon. Here, an 11-year old premenarchal girl presented with deepening of the voice. In addition, clitoromegaly and hirsutism with...

A case of McKusick-Kaufman syndrome
Se-Hyung Son, Yoon Joo Kim, Eun Sun Kim, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2011;54(5):219-223.   Published online May 31, 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She...

Transient neonatal diabetes mellitus caused by a de novo ABCC8 gene mutation
Jung Hyun Kong, June Bum Kim
Clin Exp Pediatr. 2011;54(4):179-182.   Published online April 30, 2011

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1 (SUR1), have also been implicated in TNDM....

A case of hemolytic uremic syndrome preceded by intussusception
Eun Young Ko, Joo Young Kim, Hye Jin Lee, Hyun Seung Lee, Ji Whan Han, Young Hoon Kim, Jin Tack Kim, Hae Il Cheong, Pil Sang Jang
Clin Exp Pediatr. 2011;54(4):176-178.   Published online April 30, 2011

Hemolytic-uremic syndrome (HUS) is the most common cause of acute renal failure in young children. It is classically characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and uremia. Further, not only is intussusception one of the differential diagnoses of HUS but it may also become a complication during disease progression. We report a case of HUS preceded by intussusception...

Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia
Hye Young Jin, Jin Ho Choi, Gu Hwan Kim, Chung Sik Lee, Han Wook Yoo
Clin Exp Pediatr. 2011;54(3):137-140.   Published online March 31, 2011

Testicular adrenal rest tumors (TARTs) are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH) in male patients with congenital adrenal hyperplasia (CAH). A 6-year-old boy presented with testicular enlargement and pubic hair. He was diagnosed with CAH complicated by precocious puberty. However, he was not followed-up. At the age of...

Misdiagnosis of fetus-in-fetu as meconium peritonitis
Yoon Joo Kim, Se Hyung Sohn, Ju Young Lee, Jin A Sohn, Eun Hee Lee, Ee Kyung Kim, Chang Won Choi, Han Suk Kim, Beyong Il Kim, Jung Hwan Choi
Clin Exp Pediatr. 2011;54(3):133-136.   Published online March 31, 2011

Fetus-in-fetu (FIF) is a rare congenital condition in which a fetiform mass is detected in the host abdomen and also in other sites such as the intracranium, thorax, head, and neck. This condition has been rarely reported in the literature. Herein, we report the case of a fetus presenting with abdominal cystic mass and ascites and prenatally diagnosed as meconium...

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene
Se Eun Lee, Yun Hye Jung, Kyoung Hee Han, Hyun Kyung Lee, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2011;54(2):90-93.   Published online February 28, 2011

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and...

Traumatic ventricular septal defect in a 4-year-old boy after blunt chest injury
Yun Mi Kim, Byung Won Yoo, Jae Young Choi, Jun Hee Sul, Young Hwan Park
Clin Exp Pediatr. 2011;54(2):86-89.   Published online February 28, 2011

Traumatic ventricular septal defect (VSD) resulting from blunt chest injury is a very rare event. The mechanisms of traumatic VSD have been of little concern to dateuntil now, but two dominant theories have been described. In one, the rupture occurs due to acute compression of the heart; in the other, it is due to myocardial infarction of the septum. The...

A case of tacrolimus-induced encephalopathy after kidney transplantation
Myoung Uk Kim, Sae Yoon Kim, Su Min Son, Yong Hoon Park
Clin Exp Pediatr. 2011;54(1):40-44.   Published online January 31, 2011

We present a case of tacrolimus-induced encephalopathy after successful kidney transplantation. An 11-year-old girl presented with sudden onset of neurologic symptoms, hypertension, and psychiatric symptoms, with normal kidney function, after kidney transplantation. The symptoms improved after cessation of tacrolimus. Magnetic resonance imaging (MRI) showed acute infarction of the middle cerebral artery (MCA) territory in the right frontal lobe. Three days...

Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis
Se Eun Lee, Kyoung Hee Han, Yun Hye Jung, Hyun Kyung Lee, Hee Gyung Kang, Kyung Chul Moon, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2011;54(1):36-39.   Published online January 31, 2011

Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism. There have been several case reports of BS complicated by focal segmental glomerulosclerosis (FSGS). Here, we have reported the case of a BS patient who developed FSGS and subsequent end-stage renal disease (ESRD) and provided...

A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Eun Jung Noe, Han Wook Yoo, Kwang Nam Kim, So Yeon Lee
Clin Exp Pediatr. 2010;53(12):1022-1025.   Published online December 31, 2010

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the...

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
Won Ik Choi, Ji Hye Kim, Han Wook Yoo, Sung Hee Oh
Clin Exp Pediatr. 2010;53(12):1018-1021.   Published online December 31, 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis...

Perivascular epithelioid cell tumor (PEComa) of the ascending colon: the implication of IFN-α2b treatment
Sun Ju Park, Dong Kyun Han, Hee Jo Baek, Sang Young Chung, Jong Hee Nam, Hoon Kook, Tai Ju Hwang
Clin Exp Pediatr. 2010;53(11):975-978.   Published online November 30, 2010

A 7-year-old boy presented with hematochezia and abdominal pain. A 3.7-cm-sized mass was identified in the ascending colon by abdominal computed tomography and colonoscopy. The patient underwent surgical resection. Pathological examination revealed a low-grade perivascular epithelioid cell tumor (PEComa). PEComa in the colon is very rare. Only a few cases have been reported so far. An effective treatment method for...

Isolated pulmonary cryptococcosis in an immunocompetent boy
Siegfried Bauer, Ji Eun Kim, Kyong Suk La, Young Yoo, Kee Hyoung Lee, Sang Hee Park, Ji Tae Choung, Chul Whan Kim
Clin Exp Pediatr. 2010;53(11):971-974.   Published online November 30, 2010

Pulmonary cryptococcosis is rare in immunocompetent subjects. Here, we present the case of a 16-year-old boy who was referred to our pediatric department for the management of multiple consolidations detected on chest radiography, which was routinely performed when the patient was being evaluated for an ankle fracture. Fine needle aspiration biopsy was performed, and the definitive diagnosis was established as...

Bloody nipple discharge in an infant
Ji Yeon Seo, Sang Jeong Kim, Soon Joo Lee, Eun Song Song, Young Jong Woo, Young Youn Choi
Clin Exp Pediatr. 2010;53(10):917-920.   Published online October 31, 2010

Although milky nipple discharge appears frequently in infants, bloody nipple discharge is a very rare finding. We experienced a 4-month-old, breast-fed infant who showed bilateral bloody nipple discharge with no signs of infection, engorgement, or hypertrophy. The infant's hormonal examination and coagulation tests were normal, and an ultrasound examination revealed mammary duct ectasia. The symptoms resolved spontaneously within 6 weeks...

A case of intracranial hemorrhage in a neonate with congenital factor VII deficiency
Won Seok Lee, Young Sil Park
Clin Exp Pediatr. 2010;53(10):913-916.   Published online October 31, 2010

Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder. Bleeding manifestations and clinical findings vary widely, ranging from asymptomatic subjects to patients with hemorrhages that may cause significant handicaps. Treatment has traditionally involved factor VII(FVII) replacement therapy using fresh frozen plasma, prothrombin complex concentrates or plasma-derived FVII concentrates. Recombinant activated FVII (NovoSeven®) is currently considered the first-line treatment for...

An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
Yang Hee Park, June Bum Kim
Clin Exp Pediatr. 2010;53(10):909-912.   Published online October 31, 2010

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium...

Transient splenial lesion of the corpus callosum in a case of benign convulsion associated with rotaviral gastroenteritis
Yoon Young Jang, Kye Hyang Lee
Clin Exp Pediatr. 2010;53(9):859-862.   Published online September 13, 2010

Transient magnetic resonance (MR) signal changes in the splenium of the corpus callosum (SCC) arise from many different conditions, including encephalopathy or encephalitis caused by infection, seizures, metabolic derangements, and asphyxia. Few case reports exist on reversible SCC lesions associated with rotavirus infection. A benign convulsion with mild gastroenteritis (CwG) is frequently associated with rotaviral infections. This entity is characterized...

A case of Kawasaki disease with coexistence of a parapharyngeal abscess requiring incision and drainage
Se Hyun Choi, Hyun Jung Kim
Clin Exp Pediatr. 2010;53(9):855-858.   Published online September 13, 2010

Kawasaki disease (KD) causes multisystemic vasculitis but infrequently manifests with deep neck infections, such as a peritonsillar abscess, peritonsillar or deep neck cellulitis, suppurative parapharyngeal infection, or retropharyngeal abscess. As its etiology is still unknown, the diagnosis is usually made based on typical symptoms. The differential diagnosis between KD and deep neck infections is important, considering the variable head and...

Testicular torsion in the inguinal region in an extremely low birth weight infant
Yu Jin Jung, Jae Min Chung
Clin Exp Pediatr. 2010;53(9):852-854.   Published online September 13, 2010

Testicular torsion is rare in newborn infants. However, its frequency has increased, most of which are reported in full-term infants. We diagnosed and treated testicular torsion in an extremely low birth weight infant (ELBWI). A 2×2 cm red mass was palpable in the left groin of a 24-week-old, 745 g, male newborn at 23 days of age. Left testicular torsion...

A case of Bartter syndrome type I with atypical presentations
Eun Hye Lee, Ju Sun Heo, Hyun Kyung Lee, Kyung Hee Han, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2010;53(8):809-813.   Published online August 31, 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset...

Successful treatment by exchange transfusion of a young infant with sodium nitroprusside poisoning
Jong Geun Baek, Hoar Lim Jeong, Ji Sook Park, Ji Hyun Seo, Eun Sil Park, Jae Young Lim, Chan Hoo Park, Hyang Ok Woo, Hee Shang Youn, Jung Sook Yeom
Clin Exp Pediatr. 2010;53(8):805-808.   Published online August 31, 2010

Although sodium nitroprusside (SNP) is often used in pediatric intensive care units, cyanide toxicity can occur after SNP treatment. To treat SNP-induced cyanide poisoning, antidotes such as amyl nitrite, sodium nitrite, sodium thiosulfate, and hydroxycobalamin should be administered immediately after diagnosis. Here, we report the first case of a very young infant whose SNP-induced cyanide poisoning was successfully treated by...

A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
Min Young Lee, Ga Won Jeon, Ji Mi Jung, Jong Beom Sin
Clin Exp Pediatr. 2010;53(7):774-777.   Published online July 31, 2010

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome....

Secondary renal amyloidosis in a 13-year-old girl with bronchiectasis
Eun Ae Yang, Dong Won Lee, Myung Chul Hyun, Min Hyun Cho
Clin Exp Pediatr. 2010;53(7):770-773.   Published online July 31, 2010

A 13-year-old girl was diagnosed with non-cystic fibrosis (CF)-related multifocal bronchiectasis accompanied by nephrotic-range proteinuria of unknown cause. On renal biopsy, there were many segmental homogeneous deposits of amyloid tissue with positive Congo red staining in the glomeruli and interstitium. On electron microscopy, relatively straight, non-branching, randomly arranged amyloid fibrils were showed in the mesangium of the glomeruli. These fibrils...

A case of regression of atypical dense deposit disease without C3 deposition in a child
Min Sun Kim, Pyoung Han Hwang, Mung Jae Kang, Dae-Yeol Lee
Clin Exp Pediatr. 2010;53(7):766-769.   Published online July 31, 2010

Dense deposit disease (DDD) is a rare disorder characterized by the deposition of abnormal electron-dense material within the glomerular basement membrane of the kidneys. The diagnosis is made in most patients between 5 and 15 years of age, and within 10 years, approximately half of the affected patients progress to end-stage renal disease. We report a rare case of regressive...

A case report of chronic granulomatous disease presenting with aspergillus pneumonia in a 2-month old girl
Eun Lee, Seak Hee Oh, Ji Won Kwon, Byoung Ju Kim, Jinho Yu, Chan Jeoung Park, Soo Jong Hong
Clin Exp Pediatr. 2010;53(6):722-726.   Published online June 23, 2010

Chronic granulomatous disease (CGD) is an uncommon inherited disorder caused by mutations in any of the genes encoding subunits of the superoxide-generating phagocyte NADPH oxidase system, which is essential for killing catalase producing bacteria and fungi, such as Aspergillus species, Staphylococcus aureus, Serratia marcescens, Nocardia species and Burkholderia cepacia. In case of a history of recurrent or persistent infections, immune...

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 2010;53(6):718-721.   Published online June 23, 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell...

A case of pyogenic liver abscess in a 10-year-old girl
Jung Lim Byun, Sun Hwan Bae, Sang Woo Park
Clin Exp Pediatr. 2010;53(5):666-668.   Published online May 31, 2010

Pyogenic liver abscesses are rare in children. In pediatric patients, altered host defences seem to play an important role. However, pyogenic liver abscess also occurs in healthy children. We experienced a case of pyogenic liver abscess in a healthy immunocompetent 10-year-old-girl. The patient presented two distinct abscesses: one subphrenic and the other intrahepatic. The intrahepatic abscess resolved with percutaneous drainage...

A case of anemia caused by combined vitamin B12 and iron deficiency manifesting as short stature and delayed puberty
Seung Min Song, Keun Wook Bae, Hoi-Soo Yoon, Ho Joon Im, Jong-Jin Seo
Clin Exp Pediatr. 2010;53(5):661-665.   Published online May 31, 2010

Anemia caused by vitamin B12 deficiency resulting from inadequate dietary intake is rare in children in the modern era because of improvements in nutritional status. However, such anemia can be caused by decreased ingestion or impaired absorption and/or utilization of vitamin B12. We report the case of an 18-year-old man with short stature, prepubertal sexual maturation, exertional dyspnea, and severe...

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