- Case Report
- Decreased heart sound in a healthy newborn: Spontaneous multiseptated cystic pneumomediastinum with delayed respiratory distress
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Young June Choe, Eun eun Kim, Ee-Kyung Kim, Han-Suk Kim, Jung-Eun Chun, Woo Sun Kim, In-One Kim, Jung-Hwan Choi
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Clin Exp Pediatr. 2010;53(2):244-247. Published online February 15, 2010
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Spontaneous pneumomediastinum in the absence of predisposing risk factors has been rarely observed in full-term neonates. A 3-day-old neonate, delivered vaginally at term without any perinatal complications or signs of respiratory difficulty, was referred to the Seoul National University Children’s Hospital because of reduced heart sound detected during routine neonatal examination. Chest computed tomography (CT) showed air collection in the... |
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- A case of congenital vallecular cyst associated with
gastroesophageal reflux presenting with stridor,
feeding cyanosis, and failure to thrive
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Mi Ae Yang, Min Jae Kang, Jeana Hong, Seung Han Shin, Sang Duk Kim, Ee-Kyung Kim, Han-Suk Kim, Jung-Hwan Choi, Tack Kyun Kwon, In-One Kim
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Clin Exp Pediatr. 2008;51(7):775-779. Published online July 15, 2008
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Vallecular cyst is an uncommon but potentially dangerous condition causing stridor and has been associated with sudden airway obstruction resulting in death due to its anatomical location in neonates. It may also present with various degrees of feeding problems resulting in failure to thrive. When a vallecular cyst is suspected clinically, endoscopic laryngoscopy is necessary to visualize it. Other conditions... |
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- Two Cases of Oculocerebrorenal Syndrome of Lowe
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So Won Kim, Young Suk Yu, In-One Kim, Hae Il Cheong, Yong Seung Hwang, Yong Choi
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Clin Exp Pediatr. 1999;42(3):419-423. Published online March 15, 1999
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Oculocerebrorenal syndrome of Lowe(OCRL) is a rare X-linked disorder characterized by congenital cataract(oculo-), hypotonia, developmental delay, cognitive impairment(cerebro-), renal tubular dysfunction(renal), and growth retardation. Recently, the defective gene, OCRL-1 gene encoding [PtdIns(4,5)P2] 5-phosphatase, was cloned with mutations identified in patients. Although there have been about 200 cases of OCRL reported in English literature, only three reports have been published in... |
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- Original Article
- Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome
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Hang Bo Jeong, Se Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Seung Cheol Kim, In-One Kim
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Clin Exp Pediatr. 1997;40(3):385-392. Published online March 15, 1997
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Purpose : Joubert syndrome is known tobean autosomal recessive disorder characterized
by cerebellar vermian dysgenesis with many symptoms and variety of other
malformations. We studied the relevant symptoms and various malformations of seven
patients diagnosed as Joubert syndrome at our institution.
Methods : Seven children with cerebellarvermian dysgenesis consistent with Joubert
syndrome were included in ourstudy. Each child was diagnosed at the Seoul National
University Children's... |
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- Case Report
- A case of Primary Sclerosing Cholangitis with Ulcerative Colitis
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Jung Sue Kim, Yon Ho Choe, Chong Jai Kim, Woo Sun Kim, In-One Kim, Jeong Kee Seo
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Clin Exp Pediatr. 1996;39(10):1448-1454. Published online October 15, 1996
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An association between primary sclerosing cholangitis and ulcerative colitis is well known.
But, primary sclerosing cholangitis with ulerative colitis has been rarely reported in children. The
prevalence of primary sclerosing cholangitis among ulcerative colitis patiens is 3% in children.
Primary sclerosing cholangitis is characterised by inflammation and fibrosis of the intrahepatic
and extrahepatic bile ducts. The diagnosis of primary sclerosing cholangitis based on biochemical,
histologic... |
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