• Clinical and Experimental Pediatrics
• /
• 제56권6호
• /
• pp.265-268
• /
• 2013

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs$^*21$) as a hemizygous form.

• Journal of Yeungnam Medical Science
• /
• 제29권1호
• /
• pp.38-41
• /
• 2012

Behcet's disease is a rare multisystemic disorder whose main pathological defectis vasculitis, and superior vena cava (SVC) syndrome without thrombosis is a very rare manifestation of the disease. These authors encountered a case of SVC syndrome without thrombosis caused by Behcet's disease. A 33-year-old man visited the hospital for aggravated dyspnea without any related medical and familial history. He had a threeday history of abrupt swelling of the face, neck, and right arm. He suffered from recurrent oral ulcer, and there were acneiform nodules on his face as well as redness and swelling at the site of the intravenous injection. On the multi-detected computed tomography (CT) chest angiograms (chest angio MDCT), the SVC narrowed without thrombosis. Venogram was carried out, and percutaneous transluminal balloon angioplasty of the SVC stenotic site was performed. The following day, the swelling was found to have subsided. The details of the case are reported herein.

• Journal of Chest Surgery
• /
• 제27권1호
• /
• pp.72-75
• /
• 1994

The esophageal hiatal hernia is a rare disease in Korea especially in children and infant. We experienced a case of type III esophageal hiatal hernia in 9 months female. She had no specific past history and familial history except recurrent URI and postprandial habitual vomiting. The chest X-ray and Barium swallowing showed herniated stomach in Rt. thoracic cavity and posterior mediastinum. We performed modified Belsey Mark IV procedure with using the 3-0 and 4-0 Pledgeted Ticrons. In operative field, the stomach cardia portion was herniated into the Rt.thoracic cavity and posterior mediastinum with elevation of the esophagogastric junction above the diaphragm. But there was no evidence of short esophagus and combined anomaly. The postoperative courses were uneventful and good without specific complication for about 5 months to this point.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제22권4호
• /
• pp.407-412
• /
• 2019

Excessive weight gain in children diagnosed with celiac disease (CD) is becoming more common. We describe 2 siblings (9-year and 6 months-old female and 6-year and 9 months-old male) with obesity showing attenuated gastrointestinal and atypical symptoms in which CD was diagnosed in the absence of a known family history of CD. After children's diagnosis, CD in their parents was also investigated. It was detected in their father affected by overweight. The presentation of patients with CD has changed. While patients with overweight and obesity commonly have symptoms such as abdominal pain, reflux, headache, and constipation due to lifestyle factors, CD should also be considered in patients with or without a family history of CD. Careful nutritional status assessment and follow-up monitoring after the diagnosis of CD are mandatory, especially in subjects who are already overweight at the presentation of this disease.

• 대한근전도전기진단의학회지
• /
• 제20권2호
• /
• pp.119-123
• /
• 2018

A 14-year-old student presented with a 2-year history of progressive left foot deformity. High elevated medial arch, hindfoot varus deformity and second to fourth claw toes were idenfied in the left foot without a familial history. Neurologic examinations showed left distal lower extremity weakness and bilateral increased deep tendon reflexes. MRI of whole spine demonstrated thickened filum terminale and spinal defect covered with pulled skin which findings consistent with tethered cord syndrome (TCS). He was referred to neurosurgery department and had a detethering operation of the spinal cord. Two years later, he underwent foot surgery because his foot deformity progressed despite the detethering operation. It is very rare for TCS to present with pes cavus as the only symptom, also in Korea. We suggest that TCS should be considered as one of the differential diagnoses associated with unilateral pes cavus in adolescence so as not to miss the proper period of surgery.

• 대한한방소아과학회지
• /
• 제24권2호
• /
• pp.1-12
• /
• 2010

Objectives Taking detailed patient history helps earlier diagnosis and treatment of developmental disability. In this study we analyzed the clinical questionnaire to find out the clinical characteristics of those with five-retardation, five-limpness, or five-stiffness. Methods The data was collected from 484 children under the age of six who have visited H oriental medicine clinic for developmental delay. The clinical questionnaire was filled out by their parents and the data was analyzed statistically. Results 436 children showed symptoms of five-retardation, 90 children suffered from five-stiffness, 54 children showed five-limpness and 7 children suffered from five-stiffness and five-limpness complex. Generally, boys had higher chance to show disease symptoms than the girls (2.32:1) and 40 children (8.26%) reported family history of developmental disability. Cerebral palsy ranks the most common familial disease, followed by developmental delay, mental retardation, autistic disorder and language disorder. Among the children we have studied, 285 children (63.19%) showed delayed unassisted walk while 192 children (42.57%) had language disorder. Also, 138 children (28.51%) had both walk and language disorders. The children in this study also showed delayed toilet training and half of them had little stranger anxiety when they were infants. It was also found that 120 children (24.79%) experienced epilepsy. This study reaffirmed that low birth weight, premature birth, and suffocation are major risks causing neurological damage. Conclusions They had history which including family history, problems at birth, epilepsy, face recognition, muscle tone disorder, delayed walking without assistance, language ability, and toilet training.

• 대한소아치과학회지
• /
• 제42권1호
• /
• pp.62-68
• /
• 2015

과잉치는 영구치열 또는 유치열에서 정상적인 개수의 치아 외에 추가적으로 발생한 치아를 말한다. 과잉치는 인접 치아와 구조물에 여러 가지 영향을 미칠 수 있기 때문에 영향을 미치기 전에 과잉치를 조기에 발견하여 관찰하며 치료계획을 세우는 것이 중요하다. 과잉치의 원인은 아직 정확하게 밝혀지지 않았으나 유전 및 환경적인 요소들이 기여한다고 추측이 되고 있다. 과잉치가 발생하는 경우에 하나의 과잉치가 발생하는 경우가 대부분이고 다수의 과잉치가 발생하는 경우에는 증후군의 일부로서 발생하는 경우가 많다. 증후군과 관계없이 여러 개의 과잉치가 발생하는 것은 매우 드물다. 한 남성과 그의 세 아들에게서 소구치 부위에 비증후군성 다수 과잉치가 발견되었기에 이 증례들에 대해 보고하고자 한다. 이 증례들은 과잉치 발생에 있어서 유전이 큰 영향을 미치며 가족력이 과잉치 조기발견의 중요한 단서가 될 수 있다는 것을 보여준다.

• 생물정신의학
• /
• 제10권2호
• /
• pp.159-167
• /
• 2003

Objective:Under the hypothesis that 5-HTTLPR polymorphism plays some role in the susceptibility or vulnerability of some subgroup of alcohol dependence, associations of 5-HTTLPR polymorphism with alcohol dependence were examined. Method:This association analysis included 109 Korean alcohol dependent and 113 Korean control subjects. DNA of all subjects were genotyped for the biallelic functional polymorphism in the 5-HTTLPR. Considering the likelihood of heterogeneity in the alcohol dependence phenotype, alcohol dependent subjects were subgrouped by onset age, family history of alcohol dependence and severity of withdrawal symptoms. Results:There were no significant differences in the frequencies of either the 5-HTTLPR genotype or the short vs. long allele in alcohol dependent and control subjects. The frequency of the S allele and S-carrier (LS or SS genotype) was significantly increased in the early onset alcohol dependent subjects and the familial alcohol dependent subjects compared with that in the control subjects. Conclusion:The results suggest that the 5-HTT 'S' promoter polymorphism is associated with an increased susceptibility or vulnerability to develop early onset alcohol dependence and familial alcohol dependence, which characterize Cloninger's type 2 alcohol dependence.

• Asian Pacific Journal of Cancer Prevention
• /
• 제16권6호
• /
• pp.2347-2350
• /
• 2015

Childhood acute lymphoblastic leukemia (ALL) is one of the most common hematologic malignancies, accounting for one fourth of all childhood cancer cases. Exposure to environmental factors around the time of conception or pregnancy can increase the risk of ALL in the offspring.This study aimed to evaluted the role of prenatal and postnatal exposure to high voltage power lines on the incidence of childhood ALL.This cross-sectional case control study was carried out on 22 cases and 100 controls who were born and lived in low socioeconomic families in Isfahan and hospitalized for therapeutic purposes in different hospitals from 2013-2014.With regard to the underlying risk factors, familial history and parental factors were noted but in this age, socioeonomic and zonal matched case control study, prenatal and childhood exposure to high voltage power lines was considered as the most important environmental risk factors of ALL (p=0.006, OR=3.651, CI 95%, 1.692-7.878). As the population was of low socioeconomic background, use of mobiles, computers and microwave was negligible. Moreover prenatal and postnatal exposure to indoor electrically charged objects was not determined to be a significant environmental factor. Thus, pre and post natal exposure to high voltage power lines and living in pollutant regions as well as familial influence could be described as risk factors of ALL for the first time in a low socioeconomic status Iranian population.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제10권2호
• /
• pp.206-210
• /
• 2007

저자들은 수모세포종이 있는 24세 여자 환자에서 가족성 선종성 용종증이 동반된 Tucot 증후군 1예를 경험하였으며 문헌고찰과 함께 보고하는 바이다.