• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• Journal of Chest Surgery
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• v.35 no.4
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• pp.303-306
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• 2002

Patients with severe Ebstein's anomaly showing in the neonatal period, represent progressive cardiac enlargement with pulmonary hypoplasia and functional pulmonary atresia with patent ductus alteriosus-dependent pulmonary circulation. Biventricular repair in these patients had been mostly unsuccessful except for Starnes' procedure that converts the anatomy to single ventricle physiology for Fontan procedure. A 4-days old male was admitted with the diagnosis of severe Ebstein's anomaly with anatomic pulmonary atresia and severe cardiac enlargement. He successfully underwent biventricular repair with vertical plication method of atrialized right ventricle, tricupid annuloplasty, transannular right ventricular outflow tract reconstrulltion, atrial septal defect patch closure with fenestration, and right atrial reduction angioplasty Postoperatively, cardiothoracic ratio was significantly reduced and mild tricuspid regurgitation was remnant in echocardiography. The patient is currently 10 months old and is fully active without restrictions.

• Journal of Chest Surgery
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• v.23 no.2
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• pp.213-221
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• 1990

We have experienced 62 cases of modified Fontan operations in Seoul Nat’l University Hospital from Apr. 1986 to Jul. 1989, They were 38 males and 24 females, and their age was ranged from 16 months to 15.5 years of age. [mean age : 5.73$\pm$2.99 years] There were 16 operative deaths and 2 late deaths, therefore 29% of overall mortality. Their diagnoses were as follows; 28 single ventricle, 11 tricuspid atresia, 6 DORV with LV hypoplasia, 3 pulmonary atresia with hypoplastic RV, 3 TGA with hypoplastic RV, 3 cor\ulcornerGA with hypoplastic LV and PA, 6 AV canal defects with PA, and 2 others. Low cardiac output and pleural effusion were developed frequently, so we divide 40 patients into some groups to analyze the physiologic and anatomic causes of them. By the degree of the LCO, group A was no LCO[mean amount of inotropics used: 0-5 \ulcornerg/kg/min] with 17 cases, B mild LCO [5-10] with 11, C moderate to severe LCO but alive[>10] with 8, D severe LCO to death with 4 cases. For the pleural effusion, group 1 was to be removed the chest tube within 1 week with 8 cases, group II within 3 weeks with 21 cases, group III beyond 3 weeks with 12 cases. We considered their age, diagnosis, pulmonary artery size[PA index], pulmonary artery abnormality, palliative shunt, systemic ventricular type, pulmonary artery wedge pressure, as preoperative factors, and operative methods, and as postoperative factors, CVP, LAP, arrhythmia, thrombosis, atrioventricular valvular insufficiency, etc. In the view of LCO, pulmonary artery size and PCWP were statistically significant [P<0.05], and arrhythmia, A-V valve insufficiency were inclined to the group C and D Pleural effusion was influenced by the pulmonary artery size, pulmonary artery resistance, PCWP, and CVP significantly. [P<0.05] And arrhythmia, residual shunt, and A-V valvular insufficiency were inclined to group II and III, too. As a results, the followings are to be reminded as the important factors at the care of post-Fontan LCO, and persistent pleural effusion [1] pulmonary artery size, [2] pulmonary artery resistance, [3] PCWP, [4] CVP, [5] arrhythmia, [6] residual shunt, [7]A-V valvular insufficiency.

• Journal of Korean Neurosurgical Society
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• v.58 no.3
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• pp.184-191
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• 2015

Objective : Anterior communicating artery (AcomA) aneurysms represent the most common intracranial aneurysms and challenging to treat due to complex vascularity. The purpose of this study was to report our experience of endovascular treatment of AcomA aneurysms. Methods : Between January 2003 and December 2013, we retrospectively reviewed the medical records of 134 AcomA aneurysm patients available more than 6 months conventional angiographic and clinical follow-up results. We focused on aneurismal or AcomA vascular characters, angiographic and clinical follow-up results, and retreatment. Results : The rate of ruptured cases was 75.4%, and the small (<10 mm) aneurysms were 96.3%. Based on the subtypes defined by dominance of A1, 79 patients (59%) had contralateral A1 hypoplasia or agenesis. The immediate post-procedural angiography confirmed complete occlusion in 75.4%, partial occlusion in 24.6%. Procedure related complications were observed in 25 (18.6%) patients. Most of the adverse events were asymptomatic. Follow-up conventional angiography at ${\geq}6$ months was performed in all patients (mean 16.3 months) and major recanalization was noted in 6.7% and regrowth in one case. The aneurysm size (p=0.016), and initial treatment results (p=0.00) were statistically significant risk factors related to aneurysm recurrence. An overall improvement in mRS was observed during the clinical follow-up period and no rebleeding episode occurred. Conclusion : This study demonstrated that endovascular treatment is an effective treatment modality for AcomA aneurysms with low morbidity. Patients should take long term clinical and angiographic follow-up in order to assess the recurrence and warrant retreatment, especially ruptured, large, and initially incomplete occluded aneurysms.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.2
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• pp.82-87
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• 2008

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia and is caused by mutation in the CBAFA1 gene of 6p21 chromosome band. Patients with CCD express skeletal dysplasia such as hypoplastic/aplastic clavicle, brachycephalic skull, midface hypoplasia and moderate short stature. In addition to skeletal dysplasia, specific symptoms may appear in respiratory organs, auditory area, and the more distinguished, dentition. Dental findings include: delayed eruption of permanent tooth, multiple supernumerary tooth more than five, malocclusion, etc. In Patients presenting excessive SNT, complications of SNT could be prevented and will be managed through pertinently timed treatment such as tooth extraction, using space maintainer, and orthodontic management after early diagnosis. This case is about the treatment of eruption disorders in permanent teeth owing to SNT in CCD patients, who are three family members in the $3^{rd}$ generation inherited from maternal grandfather through atavism. We performed the extraction of numerous SNT and orthodontic treatment on them in this case. On evaluating panoramic and cephalometric views, some classical signs of skeletal dysplasia due to CCD were recognized in a pool of three patients, the clavicle was distinctively displayed in all patients.

• Neonatal Medicine
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• v.16 no.1
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• pp.64-70
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• 2009

Congenital diaphragmatic hernia (CDR) with severe pulmonary hypoplasia is associated with significant mortality. Recently, several new therapeutic methods have been suggested, such as high-frequency oscillatory ventilation and inhaled nitric oxide. For hypoxemic respiratory failure unresponsive to these advanced medical treatment options, extracorporeal membrane oxygenation (ECMO) serves as the last potentially effective treatment. An understanding of the pathophysiology of pulmonary hypertension associated with CDH led to a strategy involving preoperative stabilization and delayed surgical intervention with ECMO. We describe four cases of ECMO, including the first report of ECMO for neonatal CDH in Korea.

• Journal of Chest Surgery
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• v.30 no.3
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• pp.263-269
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• 1997

From April 1987 to May 1996, 13 infants underwent a Norwood operation for complex congenital heart diseases including hypoplastic left heart syndrome (n : 7), mitral stenosis with small VSD and subaortic stenosis (n : 1), mitral atresia with ventricular septal defect, coarctation of aorta, and subaortic stenosis (n = 1), interrupted aortic arch with ventricular septal defect and subaortic stenosis (n : 1), tricuspid atresia with transposition of the great arteries (n = 1), and complex double-inlet left ventricle (n : 2). All patients without hypoplastic left heart syndrome were associated wit hypoplasia of ascending aorta and arch. Age at operation ranged from 3 days to 8.7 months (mean 60.6 $\pm$ 71.6 days, median 39 days). The operative mortality( < 30 days) was 46% (6 patients). Late mortality was 15% (2 patients). All operative deaths occured during the Erst 24 hours after the operation as a result of cardiopulmonary bypass weaning failure (5 patients) and sudden hemodynamic instability postoperatively (1 patient). Late death was due to aspiration pneumonia in two cases. There are 5 long-term survivals (39%). Three of them have undergone a two-stage repair with a modified Fontan operation in two and total cavopulmonary shunt in one at 12, 17, 4.5 months after Norwood procedure with no mortality. Two patients have entered a three-stage repair strategy by undergoing a bidirectional cavopulmonary shunt at 3 and 5.5 months after initial operation with 1 operative death. The actuarial survival rate for all patients at the first-stage operation, including hospital deaths and ate death was 30.8% at 1 year. In conclusion, the operative mortality of Norwood operation was relatively high compared to other operation for major cardiac anomalies, continuing experience will lead to an improvement in result.

• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.1
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• pp.49-54
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• 2005

Shell teeth, a rare dysplastic condition of dentin, was first described by Rushton in 1954. It is characterized by normal enamel, extremely thin dentin, correspondingly large pulp chambers, and shortened roots. This case report is of a male 3 years old. He is refered to the Chosun University dental hospital Pediatric Dentistry because of dental caries and dentin hypoplasia. Intra-oral examination showed attrition of all primary teeth. Radiographic examination showed that the pulps were extremely large with only a shell of surrounding hard tissue. The permanent premolars were missed congenitally. The diagnosis was shell teeth. Because of behavior problem, all dental treatment was undertaken with general anaesthesia. Extration, endodontic treatment and SS crown were performed. The patient has now been wearing the space maintainer and manages it well. The patient is seen intervals for supervision and follow-up care.

• Journal of the korean academy of Pediatric Dentistry
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• v.38 no.3
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• pp.290-295
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• 2011

During tooth formation, tooth development can be affected by physical action or metabolic changes around dental follicle. Especially trauma to primary dentition is the most representative physical factor that can cause development disorders of succedaneous tooth. Enamel hypoplasia and crown discoloration of succedaneous tooth are common complications of trauma. And impaction, ectopic eruption, arrest of root formation and root dilaceration of succedaneous tooth are rare. In this case, a 6-year and 5-month-old female patient visited for dental evaluation after trauma. She was diagnosed with alveolar bone fracture near upper front teeth, extrusion of the upper right and left primary central incisors, intrusion of the upper right primary lateral incisor, and palatal luxation of the upper left primary lateral incisor. Upper right and left primary central incisors with severe mobility were extracted, with gingival suture on the day of the visit. During 24 months check up, root dilacerations were found near the cemento enamel junction in the upper lateral incisors and arrests of root formation were found on the coronal 1/3 of the root in the upper central incisors. Although alveolar bone fracture is rare type of trauma in children, a thorough examination of alveolar bone is essential for prognosis and following treatment in patients with trauma.

• Journal of the korean academy of Pediatric Dentistry
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• v.44 no.3
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• pp.378-383
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• 2017

There are many reasons for tooth discoloration. An increase in the bilirubin level may cause tooth discolorations. Such cases are rare, but most involve tooth discoloration with a greenish hue. The purpose of this case report is to describe green discoloration of the primary dentition in the presence of neonatal hyperbilirubinemia. 2 boys aged 16 and 22-months presented with chief complaints of erupting teeth of abnormal color. Their primary teeth exhibited a greenish discoloration along enamel hypoplasia. Both patients were born prematurely with a low birth weight and had been diagnosed with neonatal hyperbilirubinemia. Systematic diseases can affect the hard tissue of teeth during their formation and result in changes in tooth color. Periodic follow-ups are required for establishing a normal dental condition and meeting the esthetic needs of patients. A pediatric dentist may be the first person to observe patients with discoloration in their primary dentition. In such cases the dentist can deduce the systematic disease responsible for this discoloration.