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Pulmonology
Congenital miliary tuberculosis in an 18-day-old boy
Jue Seong Lee, Chang Hoon Lim, Eunji Kim, Hyunwook Lim, Yoon Lee, Ji Tae Choung, Young Yoo
Clin Exp Pediatr. 2016;59(Suppl 1):S64-S67.   Published online November 30, 2016

Congenital tuberculosis (TB) is a rare disease that is associated with high mortality. Mycobacterium tuberculosis, the causative agent, may be transmitted from the infected mother to the fetus by the transplacental route or by aspiration of infected amniotic fluid. Clinical symptoms and signs are not specific. Miliary patterns are the most common findings in the chest X-rays of many infants...

Nephrology (Genitourinary)
Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome
Da Min Choi, Jung Eun Pyun, Hyung Eun Yim, Kee Hwan Yoo, Jung Ok Shim, Eun Jung Lee, Nam Hee Won
Clin Exp Pediatr. 2016;59(Suppl 1):S72-S75.   Published online November 30, 2016

Eosinophilic gastroenteritis is a rare disease characterized by prominent eosinophilic tissue infiltration of the gastrointestinal tract. Here, we report a case of eosinophilic gastroenteritis in an 18-year-old patient with prolonged nephrotic syndrome who presented with abdominal pain and peripheral hypereosinophilia. During the previous 2 years, he had visited local Emergency Department several times because of epigastric pain and nausea. He...

Gastroenterology
Acute gastritis associated with Epstein-Barr virus infection in a child
Ji Mok Kim, Chun Woo Song, Kyu Sang Song, Jae Young Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S68-S71.   Published online November 30, 2016

Infectious mononucleosis is Epstein-Barr virus (EBV) inducing a self-limiting clinical syndrome characterized by fever, sore throat, hepatosplenomegaly, and generalized lymphadenopathy. Gastrointestinal symptoms of EBV infection are nonspecific and occur rarely. EBV inducing acute gastrointestinal pathology is poorly recognized without suspicion. Careful consideration is needed to diagnose gastric involvement of EBV infection including gastric lymphoma, gastric cancer, and gastritis. A few...

Pulmonology
Endovascular stenting of tracheoinnominate fistula after tracheostomy in a 14-year-old boy
Mi-Hye Bae, Yun-Jin Lee, Sang Ook Nam, Hye-Young Kim, Chang Won Kim, Young Mi Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S76-S79.   Published online November 30, 2016

Tracheoinnominate artery fistula is a rare, fatal complication of tracheostomy, and prompt diagnosis and management are imperative. We report the case of tracheoinnominate artery fistula after tracheostomy in a 14-year-old boy with a history of severe periventricular leukomalacia, hydrocephalus, cerebral palsy, and epilepsy. The tracheoinnominate artery fistula was successfully treated with a stent graft insertion via the right common femoral...

Cardiology
Anomalous right coronary artery from pulmonary artery discovered incidentally in an asymptomatic young infant
Kyu Seon Kim, Eun Young Jo, Jae Hyeon Yu, Hong Rang Kil
Clin Exp Pediatr. 2016;59(Suppl 1):S80-S83.   Published online November 30, 2016

Isolated anomalous right coronary artery originating from the pulmonary artery (ARCAPA) is a rare congenital coronary anomaly that is asymptomatic and discovered incidentally in most cases. ARCAPA is generally not considered a fatal defect in infancy or childhood, although cases of sudden death have been reported. Here, we report a 2-month-old female infant who presented with a prolonged fever that...

Idiopathic midaortic syndrome with malignant hypertension in 3-year-old boy
Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh
Clin Exp Pediatr. 2016;59(Suppl 1):S84-S87.   Published online November 30, 2016

Midaortic syndrome (MAS) is a rare vascular disease that commonly causes renovascular hypertension. The lumen of the abdominal aorta narrows and the ostia of the branches show stenosis. MAS is associated with diminished pulses in the lower extremities compared with the upper extremities, severe hypertension with higher blood pressure in the upper rather than lower extremities, and an abdominal bruit....

Gastroenterology
Granular cell tumor of the esophagus in an adolescent
Ji Sun Lee, Kyung Ok Ko, Jae Woo Lim, Eun Jeong Cheon, Young Jin Kim, Jang Sin Son, Jung Min Yoon
Clin Exp Pediatr. 2016;59(Suppl 1):S88-S91.   Published online November 30, 2016

Esophageal granular cell tumor (GCT) is a rare neoplasm originating from the Schwann cells of the submucosal neuronal plexus. Histology is the gold standard for its diagnosis. Endoscopic resection or surgical excision should be considered, depending on the potential for malignancy. Here, we report a case of an esophageal GCT in an adolescent. A 12-year-old boy presented with a 1-year...

Oncology
Esthesioneuroblastoma in a boy with 47, XYY karyotype
Hee Cheol Jo, Seong Wook Lee, Hyun Joo Jung, Jun Eun Park
Clin Exp Pediatr. 2016;59(Suppl 1):S92-S95.   Published online November 30, 2016

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid...

Relapsed Wilms' tumor with multiple brain metastasis
Akın Akakın, Baran Yılmaz, Murat Şakir Ekşi, Özlem Yapıcıer, Türker Kılıç
Clin Exp Pediatr. 2016;59(Suppl 1):S96-S98.   Published online November 30, 2016

Wilms' tumor is the most common malignant renal tumor in childhood. The brain metastasis of a Wilms' tumor with anaplastic histopathology is rare. We present the case of an 8-year-old girl with Wilms' tumor, who presented with multiple brain metastases 5 years after her primary diagnosis. The brain masses were diagnosed after a generalized tonic-clonic seizure attack. The big solid...

Nephrology (Genitourinary)
Successful treatment of tubulointerstitial nephritis and uveitis with steroid and azathioprine in a 12-year-old boy
Ji Eun Kim, Se Jin Park, Ji Young Oh, Hyeon Joo Jeong, Ji Hong Kim, Jae Il Shin
Clin Exp Pediatr. 2016;59(Suppl 1):S99-S102.   Published online November 30, 2016

Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease, often underdiagnosed or misdiagnosed in children. We describe the case of a 12-year-old boy who presented to Severance Hospital with a 1-month history of bilateral conjunctival injection. He was first evaluated by an Ophthalmologist in another hospital and diagnosed with panuveitis. Laboratory tests indicated renal failure, and a renal biopsy...

Rheumatology
Recurrent macrophage activation syndrome since toddler age in an adolescent boy with HLA B27 positive juvenile ankylosing spondylitis
Joon Hyeong Park, Yu Mi Seo, Seung Beom Han, Ki Hwan Kim, Jung Woo Rhim, Nack Gyun Chung, Myung Shin Kim, Jin Han Kang, Dae Chul Jeong
Clin Exp Pediatr. 2016;59(10):421-424.   Published online October 17, 2016

Recurrent macrophage activation syndrome (MAS) is very rare. We present the case of an adolescent boy with human leukocyte antigen (HLA) B27-positive ankylosing spondylitis (AS), who experienced episodes of recurrent MAS since he was a toddler. A 16-year-old boy was admitted because of remittent fever with pancytopenia and splenomegaly after surgical intervention for an intractable perianal abscess. He had been...

Neurology
Painful legs and moving toes syndrome in a 16-year-old girl
Seung Soo Kim, Yong Seung Hwang, Young Chang Kim
Clin Exp Pediatr. 2016;59(9):381-383.   Published online September 21, 2016

Painful legs and moving toes (PLMT) syndrome is characterized by spontaneous movements of the digits and pain in one or both lower extremities. Of the reported cases, a majority of the patients was female, and the mean age of onset was 58 years. Only one pediatric case has been reported so far. Herein, we report the first adolescent case of...

Infection
Distinctive clinical features of HPeV-3 infection in 2 neonates with a sepsis-like illness
Jung Sook Yeom, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn, Ok Jeong Lee, Tae-Hee Han, Ju-Young Chung
Clin Exp Pediatr. 2016;59(7):308-311.   Published online July 31, 2016

We report a human parechovirus-3 (HPeV-3) infection in 2 neonates who had prolonged fever (>5 days) with palmar-plantar erythema. This distinctive rash was observed 4–5 days after fever onset, just before defervescence. Elevated aspartate aminotransferase, lactate dehydrogenase, and ferritin levels were characteristic laboratory findings in the 2 cases, suggesting tissue damage caused by hypercytokinemia. Case 1 was treated with intravenous...

Neurology
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(6):280-284.   Published online June 30, 2016

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent...

Genetics and Metabolism
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma
Azita Tavasoli, Shirin Sayyahfar, Babak Behnam
Clin Exp Pediatr. 2016;59(6):276-279.   Published online June 30, 2016

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation...

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