• Clinical and Experimental Pediatrics
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• v.59 no.2
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• pp.59-64
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• 2016

Purpose: Infantile Marfan syndrome (MFS) is a rare congenital inheritable connective tissue disorder with poor prognosis. This study aimed to evaluate the cardiovascular manifestations and overall prognosis of infantile MFS diagnosed in a tertiary referral center in Korea. Methods: Eight patients diagnosed with infantile MFS between 2004 and 2014 were retrospectively evaluated. Results: Their median age at the time of diagnosis was 2.5 months (range, 0-20 months). The median follow-up period was 25.5 months (range, 0-94 months). The median length at birth was 50.0 cm (range, 48-53 cm); however, height became more prominent over time, and the patients were taller than the 97th percentile at the time of the study. None of the patients had any relevant family history. Four of the 5 patients who underwent DNA sequencing had a fibrillin 1 gene mutation. All the patients with echocardiographic data of the aortic root had a z score of >2. All had mitral and tricuspid valve prolapse, and various degrees of mitral and tricuspid regurgitation. Five patients underwent open-heart surgery, including mitral valve replacement, of whom two required multiple operations. The median age at mitral valve replacement was 28.5 months (range, 5-69 months). Seven patients showed congestive heart failure before surgery or during follow-up, and required multiple anti-heart failure medications. Four patients died of heart failure at a median age of 12 months. Conclusion: The prognosis of infantile MFS is poor; thus, early diagnosis and timely cautious treatment are essential to prevent further morbidity and mortality.

• Clinical and Experimental Pediatrics
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• v.59 no.6
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• pp.280-284
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• 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 mutation analysis of his father and other family members revealed c.940_943 del (p.Val314 Asn315delinsThrfsX3) mutations of the CCM1 gene. A 10-month-old boy who presented with seizure-like movements was reported to have had no perinatal event. His aunt was diagnosed with cerebral angioma. Brain and spine MRI revealed multiple angiomas in the cerebral hemisphere and thoracic spinal cord. Mutation analysis of his father was normal, although that of the patient and his mother revealed c.535C>T (p.Arg179X) mutations of the CCM1 gene. Based on these studies, we suggest that when a child with a familial history of CCMs exhibits neurological symptoms, the physician should suspect familial CCMs and consider brain imaging or a genetic assay.

• Journal of Chest Surgery
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• v.38 no.5 s.250
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• pp.382-384
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• 2005

Background: It is very difficult to choose the ideal valved conduit used in right ventricle outflow reconstruction in child. We can use the cryopreserved homograft but there is a limit of application because of its difficulties in the size matching and supply capacity. The $Shelhigh^{(R)}$porcine-valved conduit is commercially available and used as an alternative choice in these days. We report two cases of early Shelhigh conduit failure in right ventricular outflow tract after Ross operation in congenital aortic stenosis.

• Clinical and Experimental Pediatrics
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• v.56 no.5
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• pp.224-226
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• 2013

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by a severe idiosyncratic reaction including rash and fever, often with associated hepatitis, arthralgias, lymph node enlargement, or hematologic abnormalities. The mortality rate is approximately 10%, primarily owing to liver failure with massive or multiple disseminated focal necrosis. Here, we report a case of a 14-year-old girl treated with vancomycin because of a wound infection by methicillin-resistant Staphylococcus aureus, who presented with non-specific symptoms, which progressed to acute liver failure, displaying the hallmarks of DRESS syndrome. With the presence of aggravated hepatic encephalopathy and azotemia, the patient was refractory to medical treatments, she received a living-donor liver transplantation, and a cure was achieved without any sign of recurrence. Vancomycin can be a cause of DRESS syndrome. A high index of suspicion and rapid diagnosis are necessary not to miss this potentially lethal disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.3
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• pp.170-177
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• 2014

Purpose: Choledochal cyst is a cystic dilatation of common bile duct. Although the etiology is presently uncertain, anomalous pancreaticobiliary ductal union (APBDU) is thought to be a major etiology of choledochal cyst. In this study, we analyzed the clinical and anatomical characteristics and pathologies of patients diagnosed with choledochal cyst in a single institute for 25 years. Methods: A total of 113 patients, diagnosed with choledochal cyst and who received an operation in Severance Children's Hospital from January 1988 to May 2013, were included. Medical records were reviewed, including clinical and demographic data, surgical procedures. Abdominal ultrasonography, magnetic resonance cholangiopancreatography, and intraoperative cholangiography were used as diagnostic tools for evaluation and classification of choledochal cyst and the presence of anomalous pancreaticobiliary ductal union. Todani's classification, and relationship between APBDU and surgical pathology. Results: Among 113 patients, 77 patients (68.1%) presented symptoms such as hepatitis, pancreatitis and/or cholecystitis. Eighty three patients (73.5%) had APBDU, and 94 patients (83.2%) showed inflammatory pathologic changes. APBDU, pathologic inflammation, and serological abnormalities such as hepatitis or pancreatitis showed a statistically significant correlation to one another. Conclusion: APBDU is thought to be one of the etiologic factors of choledochal cyst. It is related to the inflammatory changes in bile duct that can lead to the cystic dilatation.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.19 no.2
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• pp.147-151
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• 2016

Neonatal hemochromatosis (NH) is a severe neonatal liver injury that is confirmed by extra-hepatic iron accumulation. Although a recent study described treating NH with exchange transfusions and intravenous immunoglobulin, liver transplantation should be considered for patients with severe liver failure that does not respond to other medical treatment. Herein, we report the case of a two-month-old female infant who presented with persistent ascites and hyperbilirubinemia. Her laboratory findings demonstrated severe coagulopathy, high indirect and direct bilirubin levels, and high ferritin levels. Abdominal magnetic resonance imaging presented low signal intensity in the liver on T2-weighted images, suggesting iron deposition. The infant was diagnosed with NH as a result of the clinical findings and after congenital infection and metabolic diseases were excluded. The infant was successfully treated with a living-donor liver transplantation. Living related liver transplantation should be considered as a treatment option for NH in infants.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.13-17
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• 2018

Methylmalonic acidemia is an autosomal recessive disorder caused by complete (mut0) or partial (mut-) deficiency of methylmalonyl-CoA mutase (MUT) or by defects in the synthesis of adenosylcobalamin (cblA, cblB, cblD variant 2). Long term complications of methylmalonic acidemia include tubulointerstitial nephritis with progressive renal failure, intellectual impairment, pancreatitis, and growth failure. We report a case of methylmalonic acidemia in a girl who diagnosed at 6 days after birth. She has developed recurrent metabolic crises with hyperammonemia and metabolic acidosis. In addition, she suffered from the chronic complications including tubulointerstitial nephritis, electrolyte imbalance associated with renal dysfunction, growth failure and fracture of femur shaft. At the age of 10 years, hypercalcemia and severe osteoporosis were noted, and pamidronate therapy was given for two years, which relieved hypercalcemia and osteoporosis.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.20-23
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• 2018

Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.

• Clinical and Experimental Pediatrics
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• v.55 no.5
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• pp.177-180
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• 2012

OK-432 (picibanil) is an inactivated preparation of $Streptococcus$ pyogenes that causes pleurodesis by inducing a strong inflammatory response. Intrapleural instillation of OK-432 has recently been used to successfully treat neonatal and fetal chylothorax. Here we report a trial of intrapleural instillation of OK-432 in two preterm infants who were born with hydrops fetalis and massive bilateral pleural effusion. Both cases showed persistent pleural effusion, refractory to conservative treatment, up to postnatal days 26 and 46, respectively. An average of 80 to 140 mL of pleural fluid was drained daily. In case 1, the infant was treated with OK-432 during the fetal period at gestation 28 weeks and 4 days of gestation, but showed recurrence of pleural effusion and progressed into hydrops. Within two to three days after OK-432 injection, the amount of pleural fluid drainage was dramatically decreased and there was no reaccumulation. We did not observe any side effects related to OK-432 injection. We suggest that OK-432 should be considered as a therapeutic option in infants who have persistent pleural effusion for more than four weeks, with the expectation of the early removal of the chest tube and a good outcome.

• Clinical and Experimental Pediatrics
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• v.55 no.12
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• pp.487-490
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• 2012

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.