• Childhood Kidney Diseases
• /
• v.13 no.2
• /
• pp.161-169
• /
• 2009

Purpose : This study was performed to report the diagnosis and treatment of nephrotic syndrome manifesting in the first year of life. Methods : We retrospectively reviewed the clinical data with chart review in 7 patients who were diagnosed as nephrotic syndrome manifesting in the first year of life from 1996 to 2007. Results : Three patients had congenital nephrotic syndrome, the other 4 patients had infantile nephrotic syndrome. Their ages ranged from birth to 11 months and male to female ratio was 1 to 6. Renal biopsies were done in 6 patients. One patient had Finnish type congenital nephrotic syndrome, 2 patients had diffuse mesangial sclerosis, 2 patients had focal segmental glomerulosclerosis and 1 patient had minimal change disease. Genetic analyses of NPHS2, PLCE1, and WT1 were done in 4 patients and 2 of them had WT1 mutation. Among 3 patients with congenital nephrotic syndrome, 1 patient was diagnosed as congenital nephrotic syndrome of Finnish type and the other 2 patients were diagnosed as Denys-Drash syndrome. All of the patients with congenital nephrotic syndrome died due to sepsis. Among 4 patients with infantile nephrotic syndrome, 2 patients died and 1 had remission, another patient progressed to end stage renal disease. Conclusion : Most of nephrotic syndrome manifesting in the first year was hereditary renal disease. Patients with nephrotic syndrome manifesting in the 3 month of life had poorer prognosis and needed more aggressive management including early dialysis and renal transplantation might be considered compared with infantile nephrotic syndrome. Further genotype-phenotype correlation studies are needed.

• Clinical and Experimental Pediatrics
• /
• v.51 no.6
• /
• pp.646-649
• /
• 2008

Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with aphakia. The syndrome is characterized by a bird-like face, dental abnormalities, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and proportionate dwarfism. A brief review of the literature was conducted.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.14 no.1
• /
• pp.123-127
• /
• 2003

Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.

• Clinical and Experimental Pediatrics
• /
• v.48 no.12
• /
• pp.1317-1323
• /
• 2005

Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. Results : The relative frequencies of different sex chromosome abnormalities were Klinefelter(52 percent), Turner(42 percent), XXX syndrome(3 percent) and mixed gonadal dysgenesis(3 percent). The populations of different karyotypes in Klinefelter syndrome were 47,XXY(97 percent) and 46,XY/47,XYY(3 percent). The populations of different karyotypes in Turner syndrome were 45,X(67 percent,), mosaicism(23 percent), and structural aberrations(10 percent). The populations of different karyotypes in XXX syndrome were 47,XXX(67 percent,) and 46,XX/47,XXX(33 percent). All mixed gonadal dysgenesis were 45,X/46,XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. Conclusion : Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

• Journal of Genetic Medicine
• /
• v.7 no.1
• /
• pp.9-15
• /
• 2010

Congenital hypothyroidism (CH) is detected at a rate of 1 in 3,000 to 4,000 live births, making it the most common congenital endocrine disorder worldwide. CH is most commonly caused by defects in thyroid development leading to thyroid dysgenesis or dyshormonogenesis. Congenital hypothyroidism is usually sporadic, but up to 2% of cases of thyroid dysgenesis are familial, and CH caused by organification defects is often inherited in a recessive manner. The candidate genes associated with this genetically heterogeneous disorder fall into two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSHR gene in nonsyndromic CH, and Gsa and the thyroid transcription factor (TTF-1, TTF-2, and Pax-8) genes, which are associated with different complex syndromes that include CH. Among genes associated with dyshormonogenesis, the TPO and TG genes were initially described, and more recently PDS, NIS, and THOX2 gene defects. There is some evidence for a third group of CH conditions associated with iodothyronine transporter defects that are, in turn, associated with severe neurological sequelae.

• Journal of Chest Surgery
• /
• v.34 no.8
• /
• pp.630-633
• /
• 2001

Central anticholinergic syndrome is defined as an absolute or relative reduction in cholinergic activity in the central nervous system and has a wide variety of manifestations. It is associated with almost any drug given during anesthesia, except neuromuscular relaxants, and treated with the cholinesterase inhibitor physostigmine. The diagnosis of central anticholinergic syndrome is often made when symptoms resolve promptly after the administration of physostigmine. We present a case of a central anticholinergic syndrome diagnosed by treatment with physostigmine, in a patient who received closure of patent foramen ovale associated with stroke.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.11 no.1
• /
• pp.60-64
• /
• 2008

Kabuki syndrome is characterized by peculiar facial features, developmental delay, and mental retardation. Congenital hepatic abnormalities in Kabuki syndrome patients have been sporadically reported in the literature and consist of extrahepatic biliary atresia, neonatal sclerosing cholangitis, and transient neonatal cholestasis. We report here a case of congenital hepatic fibrosis in a patient with Kabuki syndrome. To our knowledge, only one case of congenital hepatic fibrosis has been reported in the setting of Kabuki syndrome.

• Proceedings of the Korean Society of Computer Information Conference
• /
• 2023.01a
• /
• pp.169-171
• /
• 2023

Wolff Parkinson White Syndrome(WPW)은 일반인과는 다르게 선천적으로 심방과 심실 사이에 부전도로(Accessory Pathway)가 존재하여 정상 전도와 비교하였을 때, 빠른 속도로 심실을 자극하여 부정맥을 일으키는 것을 의미한다. WPW는 부정맥이 주된 증상이기는 하나, 평소에는 무증상인 경우가 많고, 성인이 되어 갑작스럽게 발생하는 경우가 존재하기 때문에 인지하지 못하고 살아가는 환자들이 많다는 것이 특징이다. 이러한 특징은 갑작스러운 건강 악화가 타인의 생명에 악영향을 줄 수 있는 트럭 운전기사나 의사와 같은 직업군 등의 경우 WPW를 조기에 발견하고 치료해 위험을 사전에 방지하는 것이 매우 중요하다. 따라서, 본 논문에서는 Electrocardiogram(ECG) 데이터를 기반으로 WPW를 자동으로 분류하기 위한 Feature Ensemble 기반 심층 학습 프레임워크를 제안한다. 제안된 기법의 경우 단일 1D-CNN과 GRU를 이용한 기법 대비 F1-Score, Accuracy 기준의 성능 향상을 달성하였기에 본 Task에 적합함을 보여준다.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.29 no.2
• /
• pp.237-242
• /
• 2002

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney and nervous system, and occurs predominantly in mostly males. The patients with Lowe syndrome are characterized with prominent forehead, thin and sparse hair, protruding ears, congenital cataracts, glaucoma, mental retardation, stunted growth, hypotonia, decrease in muscle mass and tendon reflexes, renal tubular dysfunction, and metabolic bone disease. A 6-year-old boy with Lowe syndrome was admitted to our clinic, with multiple caries and a chief complaint of intermittent pain on the left mandibular molar area. Because of difficulty in management of behavior and his medical problem, general anesthesia was performed for dental care. No specific complication was noticed during dental treatment procedure under general anesthesia and also during periodic recall-checks. General anesthesia itself, however, could be a potentially life-threatening procedure due to patient's biomedical problems. When a dental procedure under general anesthesia is to be required in patient with Lowe syndrome, it may be advisable being teamed with physicians, and general anesthesia duration should be as short as possible.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.14 no.1
• /
• pp.36-40
• /
• 2018

CATCH22 syndrome or DiGeorge syndrome is a medical acronym of cardiac defects, abnormal facial appearances, thymic hypoplasia, cleft palate, and hypocalcemia. Patients with CATCH22 syndrome are susceptible to infection due to an absent or hypoplastic thymus and often have difficulties in maintaining good oral hygiene, which may require dental treatment. We present a case of dental treatment for the uncooperative child with CATCH22 syndrome under general anesthesia. A 4-year-old, 14.8 kg boy with CATCH22 syndrome visited Seoul National University Dental Hospital for dental check up. The patient had multiple caries requiring dental treatment. He experienced the corrective heart surgery due to Tetralogy of Fallot a few years ago. General anesthesia was planned because his heart rate and vital sign had shown unstable during the previous conscious sedation procedure. Dental restorative treatments were successfully performed and no complications were observed during and after the procedure. Safe and effective dental management of the patients with CATCH22 syndrome could be performed with the help of general anesthesia and careful monitoring.