A Case of Infantile Spasms in Tuberous Sclerosis with Fetal Cardiac Tumors

진장용,이우령,서은숙 대한소아신경학회 2009 대한소아신경학회지 Vol.17 No.1

Tuberous sclerosis(TS), a type of neurocutaneous syndrome, is inherited in an autosomal dominant manner. Approximately 60% of children with TS have rhabdomyomas of the heart, and 40% of fetuses in whom rhabdomyomas are detected by a prenatal ultrasonography eventually end up with TS. Therefore, when multiple cardiac rhabdomyomas are detected by a fetal ultrasonography, TS should be suspected and further examination should be considered after birth. Infantile spasms is a common type of seizure among young children with TS. We describe a patient with TS who showed cardiac tumors on a fetal ultrasound. Also, hypomelanotic macules, retinal tumors, brain cortical tubers, nodules in subependymal regions, and infantile spasms was detected after birth.

증상을 동반한 신생아 A형 간염

진장용,홍예슬,이우령 대한신생아학회 2010 Neonatal medicine Vol.17 No.1

Hepatitis A virus (HAV) infection is a common cause of acute hepatitis, but is rarely responsible for neonatal hepatitis. HAV infection is usually transmitted by the fecal-oral route, but during the neonatal period can be transmitted by the intrauterine vertical route or postnatal horizontal route. HAV infection is usually self-limited, but it can be potentially life-threatening in adults. The clinical course and symptoms are mild and the infection can be asymptomatic in newborns. Recently, we experienced a case of symptomatic neonatal hepatitis A. To our knowledge, this is the first case of neonatal hepatitis with HAV infection in Korea. 성인에서 A형 간염은 현증 감염이 대부분이지만, 소아에서는 무증상 또는 경한 증상을 보이는 경우가 많았다. 그동안 외국에서는 임신 및 분만 기간 동안에 발생한 A형 간염의 산모와 이로 인한 신생아 A형 간염에 대한 증례 보고가 드물지 않게 있었다. 국내에서는 20대와 30대의 젊은 성인에서 A형 간염에 대한 항체 양성률이 낮아지고 있는 가운데, 이들 산모들의 A형 간염에 대한 위험성이 증가하고 있는 상황이며, 아직까지 국내에서는 A형 간염에 이환된 신생아에 대한 증례 보고가 없었다. 이에 저자들은 A형 간염 산모로부터 이환된 것으로 보이는 급성 A형 간염 신생아를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

한국 소아 알레르기비염 환자의 삶의 질에 대한 설문 개발 및 유용성 평가를 위한 연구

진장용 ( Jang Yong Jin ),양현종 ( Hyeon Jong Yang ),전유훈 ( You Hoon Jeon ),김경원 ( Kyung Won Kim ),김우경 ( Woo Kyung Kim ),박용민 ( Yong Mean Park ),윤혜선 ( Hae Sun Yoon ),염혜영 ( Hye Yung Yum ),편복양 ( Bok Yang Pyun ) 대한천식알레르기학회 2009 천식 및 알레르기 Vol.29 No.4

Background: A questionnaire for assessing the quality of life (QOL) of children with allergic rhinitis has not been developed in Korea. Objective: Our study was designed to develop and validate a Questionnaire for QOL Specific to Allergic Rhinitis in Korean Children (QQOL-ARK). Method: The QQOL-ARK consisted of 4 domains including 18 items with a 5-point scale: symptoms (3 items), physical factors (8 items), psychosocial factors (6 items) and prognosis (1 item). A survey with the QQOL-ARK was performed on 168 children with allergic rhinitis twice, 4 weeks apart. We analyzed their responsiveness, reproducibility and validity. Result: The mean score of QOL according to the severity showed a statistically significant difference between the first and second visits (P<0.01). The scores of QOL were decreased in the improved group (P<0.01) and increased in the worsen group (P<0.01). The differences in scores between the first and second visits showed a statistically significant difference in intergroup analysis (P<0.01). The QQOL-ARK also showed a good reproducibility (R=0.97). There was no strong correlation between QOL and clinical severity. Conclusion: The QQOL-ARK showed a good reproducibility and validity. However, the assessment of reliability on 18 items of the questionnaire could not be performed. Although the items of this questionnaire are limited, they could provide the basis for the development of the QOL questionnaire for Korean children with allergic rhinitis in conjunction with clinical evaluation. (Korean J Asthma Allergy Clin Immunol 2009;29:242-248)

A Case of Infantile Spasms in Tuberous Sclerosis with Fetal Cardiac Tumors

Jang Yong Jin(진장용),Woo Ryoung Lee(이우령),Eun Sook Suh(서은숙) 대한소아신경학회 2009 대한소아신경학회지 Vol.17 No.1

결절성경화증은 상염색체 우성의 신경피부증후군의 한 형태이다. 횡문근종은 태아, 영아 및 소아에서 가장 흔한 심장 종양으로 결절성경화증 환아의 약 60%에서 심장 종양이 관찰되고, 산전 초음파상 심장 종양이 확인된 경우에 약 40%에서 결절성경화증으로 진단된다. 결절성경화증은 뇌, 심장, 피부 및 기타 장기들을 침범하며 경련, 지능저하, 피지샘종의 3징후를 특징으로 하며, 경련이 일찍 나타날수록 심한 지능저하를 보이는 경향이 있다. 상염색체 우성으로 가족력이 있으므로, 가족 중에 결절성경화증 환자가 있는 경우 조기에 산전 검사를 시행하여야 하고 출생 후 이에 대한 철저한 조사가 이루어져야 한다. 영아 연축은 결절성경화증 환아에서 가장 흔히 관찰되는 경련중 하나이다. 저자들은 산전 초음파상 심장 종양이 관찰되고 환아 아버지가 결절성경화증을 보였던 환아를 추적 관찰하여 색소 탈실반, 망막의 과오종, 뇌 겉질의 결절 및 뇌실막밑 결절 소견 그리고 영아 연축의 특징적인 증상과 우측 손의 기형을 동반한 결절성경화증 1례를 경험하였기에 보고하는 바이다. Tuberous sclerosis(TS), a type of neurocutaneous syndrome, is inherited in an autosomal dominant manner. Approximately 60% of children with TS have rhabdomyomas of the heart, and 40% of fetuses in whom rhabdomyomas are detected by a prenatal ultrasonography eventually end up with TS. Therefore, when multiple cardiac rhabdomyomas are detected by a fetal ultrasonography, TS should be suspected and further examination should be considered after birth. Infantile spasms is a common type of seizure among young children with TS. We describe a patient with TS who showed cardiac tumors on a fetal ultrasound. Also, hypomelanotic macules, retinal tumors, brain cortical tubers, nodules in subependymal regions, and infantile spasms was detected after birth.

Postnatal weight gain in the first two weeks as a predicting factor of severe retinopathy of prematurity requiring treatment

김종문,진장용,김성신 대한소아청소년과학회 2015 Clinical and Experimental Pediatrics (CEP) Vol.58 No.2

Purpose: This study aimed to investigate the relative weight gain at 2-week intervals up to 6 weeks after birth to predict retinopathy of prematurity (ROP) requiring treatment among very low birth weight infants. Methods: A total of 211 preterm infants with birth weights <1,500 g and gestational age <32 weeks were retrospectively reviewed. The main outcome was the development of ROP requiring treatment. Body weight measurements were recorded daily. Relative weight gains (g/kg/day) were calculated at the second, fourth, and sixth week after birth. Results: Of the 211 infants, 89 developed ROP, of which 41 spontaneously regressed and 48 with early treatment of ROP type I required laser treatment. The relative weight gain at 2, 4, and 6 weeks postnatal age was significantly lower in infants with ROP requiring treatment than in infants without ROP or those with spontaneous regression (P<0.001, P=0.005, and P=0.004, respectively). On logistic regression, poor relative weight gain in the first 2 weeks was found to be related to ROP requiring treatment (adjusted odds ratio, 0.809; 95% confidence interval, 0.695–0.941; P=0.006). Relative weight gain at 2 weeks postnatal age was significantly lower in infants with ROP requiring treatment compared to that in ROP requiring no treatment (P=0.012). Conclusion: Poor postnatal weight gain in the first 2 weeks of life is an important and independent risk factor for ROP requiring treatment. Postnatal weight gain can predict the development of severe ROP requiring treatment.

24개월에 만성 화농성 비루를 주소로 내원하여 진단된 헌터 증후군 1례

김이안,진장용,박재옥,홍용희,Kim, I An,Jin, Jang Yong,Park, Jae Ock,Hong, Yong Hee 대한유전성대사질환학회 2015 대한유전성대사질환학회지 Vol.15 No.3

Hunter syndrome(Mucopolysaccharidosis type II, MPS type II) is an X-linked disorder of glycosaminoglycans (GAGs) metabolism caused by an iduronate-2-sulfatase (IDS2) deficiency. A 24-month-old boy visited the department of pediatrics with the chief compliant of chronic purulent rhinorrhea beginning at age one. He had a history of repeated acute otitis media and chronic rhinitis. On physical examination he had a coarse face, enlarged tongue, distended abdomen, joint stiffness, and Mongolian spots at his first visit. The urine GAGs level was elevated at 66.10 mg/mmolCr (reference range, <11.1) and iduronate-2-sulfatase activity in leukocyte was decreased at 0.21 nmol/mg protein/hr (reference range, 18.7-57). Finally with an IDS gene mutational analysis, recombinant known mutation between intron 7 and distal of exon 3 in IDS2 was detected. Recombinant iduronate-2-sulfatase therapy was started without any infusion related reactions. The author highlights the importance of suspecting Hunter syndrome when pediatric patients visit with chronic purulent rhinorrhea which is a common cause of hospital visits for infants and children.

Clinical characteristics of 2009 pandemic influenza A (H1N1) infection in children and the performance of rapid antigen test

박용재,진장용,양현종,이우령,이동환,편복양,서은숙 대한소아청소년과학회 2011 Clinical and Experimental Pediatrics (CEP) Vol.54 No.10

Purpose: In autumn 2009, the swine-origin influenza A (H1N1)virus spread throughout South Korea. The aims of this study were to determine the clinical characteristics of children infected by the 2009H1N1 influenza A virus, and to compare the rapid antigen and realtime polymerase chain reaction (PCR) tests. Methods: We conducted a retrospective review of patients ≥18 years of age who presented to Soonchunhyang University Hospital in Seoul with respiratory symptoms, including fever, between September 2009 and January 2010. A real-time PCR test was used to definitively diagnose 2009 H1N1 influenza A infection. Medical records of confirmed cases were reviewed for sex, age, and the time of infection. The decision to perform rapid antigen testing was not influenced by clinical conditions, but by individual factors such as economic conditions. Its sensitivity and specificity were evaluated compared to real-time PCR test results. Results: In total, 934 patients tested positive for H1N1 by real-time PCR. The highest number of patients (48.9%) was diagnosed in November. Most patients (48.2%) were aged between 6 and 10 years. Compared with the H1N1 real-time PCR test results, the rapid antigen test showed 22% sensitivity and 83% specificity. Seventy-eight patients were hospitalized for H1N1 influenza A virus infection, and fever was the most common symptom (97.4%). Conclusion: For diagnosis of 2009 H1N1 influenza A virus infection,the rapid antigen test was inferior to the real-time PCR test in both sensitivity and specificity. This outcome suggests that the rapid antigen test is inappropriate for screening.

Characteristics of Pneumothorax in a Neonatal Intensive Care Unit

임호섭,김호,진장용,신영림,박재옥,김창휘,김성신 대한신생아학회 2011 Neonatal medicine Vol.18 No.2

Purpose: The development of postnatal pneumothorax and its common causes and clinical aspects were studied to promote early diagnosis and proper management. Methods: A retrospective study of neonates who were hospitalized in the neonatal intensive care unit at Soonchunhyang University Bucheon Hospital from 2001 to 2010 was performed. Term neonates were divided into a spontaneous pneumothorax group and a secondary pneumothorax group. The secondary group was divided into term and preterm groups. Results: Of 4,414 inpatients, 57 (1.3%) were diagnosed with pneumothorax. Of term newborn patients, 28 (80%) had a secondary pneumothorax, and seven (20%) had a spontaneous pneumothorax. No differences were observed for gender, birth weight, resuscitation,or duration of admission between the spontaneous and control groups. The duration of treatment with a thoracostomy (20 patients, 57%) was longer in the spontaneous group (5.4±2.9 days vs. 2.7±2.0 days) than that in the control group. Patients with respiratory distress syndrome (RDS) developed a pneumothorax 22.8 hours after surfactant treatment, whereas patients with transient tachypnea of the newborn (TTN), pneumonia, and meconium aspiration syndrome (MAS) developed pneumothorax after 16.6 hours. Of 50 patients with a secondary pneumothorax, 19 (38%) had RDS, 11 (22%) had MAS, 7 (14%) had TTN, and six (12%)had pneumonia. Among term newborns, 42.9% were treated only with 100% oxygen. Among preterm newborns, 72.6% and 27.3% needed a thoracostomy or ventilator care, respectively. Conclusion: A pneumothorax is likely to develop when pulmonary disease occurs in neonates. Therefore, it is important to carefully identify pneumothorax and provide appropriate treatment.

Cutaneous Neonatal Lupus Erythematosus Associated with Brain Infarction

이수영,이상훈,진장용,김성신,박재옥,김창휘 순천향대학교 순천향의학연구소 2011 Journal of Soonchunhyang Medical Science Vol.17 No.2

Neonatal lupus erythematosus (NLE) is an acquired autoimmune disorder caused by the transplacental passage of maternal autoantibodies,usually anti-Ro/SSA or anti-La/SSB antibodies, and less commonly U1-ribonucleoprotein. NLE usually involves a single organ, but multiple organ involvement has also been reported. Manifestations of NLE may include cutaneous lesions, congenital heart block, hematological diseases (anemia, thrombocytopenia, neutropenia), hepatic diseases (hepatitis, hepatosplenomegaly,cholestasis), and neurological diseases. Neurological involvement is very rare in infants with NLE. Here, we report a 2-day-old female neonate, born to a clinically asymptomatic mother, presenting with cutaneous lupus lesions and brain infarction as a neurological disease.

가와사키병의 재발에 대한 위험인자

김신아,박민지,진장용 순천향대학교 순천향의학연구소 2016 Journal of Soonchunhyang Medical Science Vol.22 No.1

Objective: This study looks into the risk factors that affect the recurrence of Kawasaki disease (KD). Methods: Among 618 child patients that have been hospitalized for the KD from July 2002 to May 2015 at the Soonchunhyang University Bucheon Hospital, 13 patients who have been hospitalized more than twice for the KD were selected as the relapse group. A comparative analysis was retrospectively conducted between the relapse group and the control group. Results: Among 618 child patients with KD, 13 cases (2.1%) showed recurrence in the disease. At initial episode of the relapse group, the mean age was 29±14.2 months. One year or less and 1-2 years old took up 76.8%, and 11 patients (84.6%) suffered a recurrence within 2 years after the initial episode. The relapse group, when compared to the control group, showed lower neutrophils count, and red cell distribution width (RDW) and C-reactive protein (CRP) levels were higher at initial episode. These differences were statistically significant (P<0.001, P<0.001, and P=0.015, respectively). There were no differences in other findings between the two groups. By utilizing the Youden’s index, the optimal cutoff value was found, and RDW was 12% and CRP was 5.955 mg/dL. Conclusion: The research suggests that it is possible to predict recurrence probabilities of KD by checking RDW and CRP values during blood tests at initial episode. Children less than 1 year old and 1-2 years old with Kawasaki disease should be carefully observed for recurrence during the 2 years after the initial episode.