• Advances in pediatric surgery
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• v.1 no.1
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• pp.8-17
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• 1995

The clinical experience of 2,340 inguinal hernia repaired by one pediatric surgeon on 2,079 children at Hanyang University Hospital from September 1979 to December 1993 was analyzed. Of 2,046 patients who had primary hernia repairs at Hanyang University Hospital, 1,636 were male and 410 female, and 55.5% of hernias occurred on the right side, 36.0% on the left, and 8.6% were bilateral. The patients presented hernia under the age of 12 months were 45.3% and those performed herniotomy under the age of 12 months were 25.5%. Birth weight was less than 2.5kg in 111 patients(8.7%) of 1,279 data available patients. Ninety(6.6%) of 1,354 data available patients were premature(<37wks gestation). The proportions of bilateral inguinal hernia and the onset age under 12 months of life in low birth weight babies and premature babies were higher than in full-term babies. Incarcerated inguinal hernia occurred in 327 patients(16.0%) of whom 8 patients were strangulated hernias. The occurrence of incarceration inversely related with age of patients. The subsequent contralateral inguinal hernia following unilateral hernia repairs occurred in 80 patients(4.3%) among which 72 were male and 8 were female. The incidence of contralateral inguinal hernia was more frequent in boys(4.8%) than girls (2.2%) and in cases after left herniotomy(6.4%) than after right herniotomy(2.9%). Sixty percent of contralateral inguinal hernia developed within 1 year after primary hernia repair. The recurrence of inguinal hernia occurred in 6 patients(0.27%) treated at our hospital primarily. There were one or more associated congenital anomalies in 83 patients of which congenital heart diseases were the most common. Sliding hernia occurred in 25 patients consisted of 5 boys and 20 girls. Family history was noted in 35 patients and there were 28 sets of monozygotic and 3 sets of dizygotic twins.

• Neonatal Medicine
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• v.25 no.1
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• pp.49-52
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• 2018

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.