• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제20권1호
• /
• pp.65-70
• /
• 2017

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis.

• 가정과삶의질연구
• /
• 제34권4호
• /
• pp.89-109
• /
• 2016

The purposes of this study were to analyze and understand the life of mothers rearing children with Down syndrome and to present basic data for overcoming the difficulties of those families. For these purposes, this study made use of the phenomenological analysis and approach with a qualitative research method. The subjects of this study are 4 mothers rearing children with Down syndrome who are beyond school age. The results were as follows. First, the reason why mothers with Down syndrome children went through psychological shock and horror was the social stigma due to the unusual appearance of children with Down syndrome. Second, the isolation with in the public education system was disclosed as a factor causing much sorrow and pain. Through this, we can recognize the importance of ensuring the equal right to receive education of children with Down syndrome. Third, the period which the mother experienced most shock and confusion was right after finding out about the disability that her child has. So, we can identify the importance of early intervention providing psychotherapy and rearing service to the parents. Fourth, the crucial factor that relieved pain and pressure from mothers was social support including family. Therefore, the social support system for mothers with Down syndrome children has to be developed and strengthened. Fifth, the crucial factor that made mother grow up during rearing experience was the reestablishment of cognition about the desired role of mothers. Through this, we can identify the importance of the mental transition process to independent thinking.

• Journal of Genetic Medicine
• /
• 제18권1호
• /
• pp.48-54
• /
• 2021

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

• Clinical and Experimental Pediatrics
• /
• 제52권11호
• /
• pp.1207-1215
• /
• 2009

목 적:학대아동보호팀은 아동학대 의심 사례를 평가/판정하고, 이를 아동보호전문기관이나 경찰에 신고하는 역할을 하는 병원 내 기관이다. 연구자들은 1개 병원 학대아동보호팀에서 20년간(1987-2007) 경험한 76건의 사례를 분석하여 학대 아동의 현황과 후유증을 알아보고자 하였다. 방 법:학대아동보호팀의 사례 기록과 의무기록, 아동보호전문기관의 기록을 함께 분석하였으며, 별도 제작한 양식에 맞추어 현재 보호자들과 사회복지사의 인터뷰를 통해 후유증을 조사하였다. 결 과:총 76건(남아 28명, 여아 48명)의 사례 중, 연령별로는 1세 미만이 6명(7.9%), 1-3세 10명(13.2%), 3-10세 41명(53.9%), 10세 이상 19명(25.0%)이었다. 학대 유형별로는 방임이 9건(11.8%), 성학대 27건(35.5%), 신체학대 44건(57.9%)이었다. 가해자는 친부모가 절반 이상이었으며, 학대 장소는 가정 내가 41건(53.9%)으로 가장 많았다. 총 24명(31.6%)의 아동들에 대하여 후유증에 대한 답변을 받았으며, 평균 추적 기간은 58.5개월이었고 평균 연령은 $8.3{\pm}6.4$세이었다. 이들 중 중등도 이상의 발달장애와 신체적 후유증을 보이는 아이가 각각 6명(25.0%), 3명(12.5%)이었으며, 정신과적 후유증을 총괄 기능 평가 척도(GAF)로 판정하였을 때 가벼운 우울증과 사회적/직업적 기능의 약간의 곤란을 의미하는 70-61보다 악화된 아이들이 13명(54.2%)이었다. 결 론:병원에 기반한 학대아동보호팀이 개입할 아동학대 사례는 전국 범위의 아동학대 사례들과 차이가 있을 수 있다. 이러한 차이점을 감안하여 보다 효과적으로 병원에서 발견, 신고되는 아동학대 사례에 대처하기 위한 노력이 필요하다.