Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily.... |
Despite developments in surgical techniques and other interventions, right ventricular (RV) failure remains an important clinical problem in several congenital heart diseases (CHD). RV function is one of the most important predictors of mortality and morbidity in patients with CHD. RV failure is a progressive disorder that begins with myocardial injury or stress, neurohormonal activation, cytokine activation, altered gene expression,... |
Congenital coronary arteriovenous fistulas (CCAFs) are rare coronary artery abnormalities in which blood is shunted into a cardiac chamber or great vessel. If the fistula itself is large and tortuous, it is generally recommended to occlude the fistula to prevent several complications. In approaches of transcatheter occlusion, the transvenous approach is preferred over the transarterial approach. The transvenous approach would... |
Partial anomalous pulmonary vein connection (PAPVC) is a rare congenital abnormal cardiac defect involving the pulmonary veins draining into the right atrium (RA) directly or indirectly by venous connection. Ninety percent of PAPVCs are accompanied by atrial septal defect (ASD). To our knowledge, there is no previous report of PAPVC with ventricular septal defect (VSD) without ASD in Korea, and... |
Purpose : Although intravenous immunoglobulin (IVIG) treatment is an effective first-line treatment for Kawasaki disease, 10-20% of the patients develop persistent fever or coronary artery complications. Medical records of Kawasaki disease patients were reviewed to assess the characteristic laboratory findings of IVIG nonresponsiveness. Methods : We reviewed the clinical records of 118 children with Kawasaki disease who were treated at... |
Purpose : Growth impairment is usually observed in children with congenital heart disease (CHD). Studies on the final height and weight of this population are insufficient. Our aim was to evaluate the final height of children with CHD and to identify the relationship between CHD and growth. Methods : We recorded the values of final height and weights of 105 CHD... |
Plastic bronchitis is a rare disease characterized by the recurrent formation of branching mucoid bronchial casts that are large and more cohesive than those that occur in ordinary mucus plugging. Casts may vary in size and can be spontaneously expectorated, but some require bronchoscopy for removal. Plastic bronchitis can therefore present as an acute life-threatening emergency if obstruction of the... |
Purpose : The aim of this study was to investigate the epidemiologic status of Kawasaki disease (KD) in infants ≤6 months of age. Methods : For the epidemiologic study of KD in Korea, data from 22,674 KD patients were collected from 1997 to 2005 on a 3-year basis by a retrospective survey. From this survey, data of 1,739 KD patients ≤6... |
Drug hypersensitivity syndrome (DHS) has rarely been reported in association with vancomycin treatment. Here, we describe an 11-year-old girl who developed fever and a maculopapular rash on day 18 of intravenous vancomycin for treatment of infective endocarditis. The patient presented with fever, a maculopapular skin rash, hepatitis, and acute renal failure caused by vancomycin-induced DHS. The symptoms resolved in less... |
A lung hernia, defined as the protrusion of pulmonary tissue and pleural membranes through a defect in the thoracic wall, is a rare event. It can be congenital or acquired, and cervical, thoracic, or diaphragmatic in location. We report the rare occurrence of a congenital atraumatic lung herniation through the azygoesophageal recess. An 8-month-old male infant, who was born... |
Paragonimiasis is a parasitic infection that occurs following the ingestion of infectious Paragonimus metacercariae from crabs or crayfish. Pulmonary paragonimiasis is the most common clinical manifestation of this infection, but several ectopic paragonimiasis cases have also been reported. Among them, cases of subcutaneous paragonimiasis are rare, especially in children. We report a case of subcutaneous paragonimiasis of the right abdominal... |
In young adolescent girls, anorexia nervosa is a significant cause of weight loss, and hospital admissions among children and adolescents. Anorexia nervosa is a life-threatening disorder, with about one-third of deaths caused by cardiac complications. A high rate of pericardial effusion has been recently reported in patients with anorexia nervosa, although relatively few cases require pericardiocentesis. Here, we describe three... |
Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was... |
Sideroblastic anemia is a rare, heterogeneous group of disorders characterized by hyperferremia, microcytic hypochromic anemia, and bone marrow erythroid hyperplasia with the presence of numerous ringed sideroblasts. We describe herewith the case of a rare coincidence of sideroblastic anemia and mitral valve prolapse with resultant regurgitation in a 2-year-old boy. In addition to the inherent propensity for the development of... |
Paragonimiasis is the infestation of lung flukes of the trematode genus Paragonimus. This disease is common in Asia, and the southern part of Korea has been known as one of the endemic areas of Paragonimiasis westermanii in Korea. Human infection is associated with specific dietary habits, such as eating freshwater crawfish or crabs. In a 6 1/2-year-old boy with pleural... |
Purpose : The aim of this study was to investigate the epidemiologic and clinical profiles of Kawasaki disease(KD) in children 8 years of age and older. Methods : For the epidemiologic study of KD in Korea, data of total 15,692 KD patients were collected from 1994 to 2002 on a 3 year basis, by the retrospective survey. Among them, data of... |
Satoyoshi syndrome(generalized Komuragaeri disease) is a rare disorder of unknown cause, characterized by progressive, painful, intermittent muscle spasms and alopecia. Endocrinopathy with amenorrhea, secondary skeletal abnormalities, and diarrhea or unusual malabsorption are frequently seen. It seems that autoimmunity may play a role in its pathogenesis. We report a 13-year-old girl with characteristic manifestations of the syndrome. She was treated with... |
Phlebectasia is an abnormal dilatation of an isolated vein and a rare venous anomaly and is usually asymptomatic. Clinically internal jugular phlebectasia is a self limited benign condition and usually no treatment is required after initial diagnosis. So suspection of this disease and appropriate diagnostic approaches are essential to avoid unnecessary surgical intervention. We present three cases of internal jugular... |
The most common obstruction of left ventricular outflow in childhood is produced either by a fibrous ring below the aortic valve, or by localized or diffuse muscular hypertrophy of the interventricular septum. Cardiac tumors causing subaortic stenosis in the newborn infant are extremely rare. This report describes two cases of subaortic stenosis caused by a tumor of the left ventricle... |
Bronchial mucoepidermoid carcinoma is very rarely encountered in children. We report a case of bronchial mucoepidermoid carcinoma in a 10-year-old boy who presented with persistent cough and atelectasis. Bronchoscopic examination showed a tumor mass occluding the right bronchus intermedius, and the mass was removed by bronchoscopy. The results of the pathological examination revealed low-grade mucoepidermoid carcinoma. He underwent right middle... |
Purpose : This study was conducted to establish the prevalence and clinical features of WPW- type ventricular preexcitation syndrome in children. Methods : Eighteen patients were discovered by the mass heart disease screening using ECG on 47,691 elementary school children in Kwangju from September 1992 to December 1994(group 1), and 14 patients were diagnosed at the Department of Pediatrics, Chonnam... |
Purpose : We performed this study to evaluate the clinical efficacy and safety of dexamethasone in preventing laryngeal edema following exubation. Methods : We retrospectively reviewed the medical records of 100 neonates who underwent endotracheal intubation and mechanical ventilation. Subjects were divided into two groups; dexamethasone treated(60 cases, dexamethasone group) and non-treated(40 cases, control group). We examined the underlying diseases of... |
Rhabdomyolysis has been reported as a cause of acute renal failure(ARF), and it can arise from traumatic and variable non-traumatic events. Rhabdomyolysis-induced ARF is very rare in children. We experienced a case of rhabdomyolysis-induced ARF in a 14-year-old boy who presented with generalized edema and oliguria following trauma, a compressed thigh by a cultivator. Laboratory tests showed marked elevation of muscle... |
Purpose : The universal vaccination against hepatitis B during early infancy is the only effective way to control hepatitis B infection in highly endemic areas in Korea. The purpose of this study was to assess the effectiveness of simultaneous hepatitis B vaccination with DPT and oral polio at 2, 4, 6 months of age in babies of HBs antigen negative mothers. Methods : One... |
Purpose : We studied the incidence and clinical course of BCG lymphadenitis to investigate the BCG related problem. Subject and Methods: Three hundred and eighty-six infants received BCG vaccine (Pasteur-1173p2) in the Well Baby Clinic, Dept. of Pediatrics, Chonnam University Hospital from May 1993 and April 1994. Among them, twenty three infants developed regional lymphadenitis. We investigated the clinical course... |
Steroid-induced lipodystrophy is preduced by long-acting injectable glucocortiocoids (triamcinolone acetonides) within three weeks after intramuscular injection. It can be caused by inappropriate use of injectable steroids. Although it is recovered spontaneously without medication or plastic surgery, it may lasts for several years. Recently we experienced four cases of steroid-induced lipodystrophy and present a brief review of related literatures. |
Sotos syndrome, cerebral gigantism, is a rare disorder characterized by early onset of excessive growth, distinctive dysmorphic head and facial feature, advanced bone development, and nonprogressive mental retardation without evidence of endocrine disorder. We experienced a case of Sotos syndrome in a two year and four month old boy, who was t hought a fragile-X syndrome at 6 months of age. A... |
Watson-Alagille syndrome is a kind of familial intrahepatic biliary atresia associated with charac- teristic face and cardiovascular anomaly. Growth and developmental delay, anomalies of the eyes such as posterior embryotoxon, deformities of the skeletal system are often the manifestations of this syndrome. We experienced three cases of Watson-Alagille syndrome recently. These patients showed charac- teristic faces and had peripheral pulmonary artery stenosis diagnosed by pulmonary... |
Nonimmune hydrops fetalis is defined as a pathologic and generalized abnormal accumulation of serous fluid in the entire body tissues and cavities unassociated with erythroblastosis. After the licensing of Rh Immune Prophylaxis (1968), the incidence of classic erythroblastosis fetalis has declined dramatically but the proportion of nonimmune types has increased relatively. With increasing use of ultrasound as a part of routine obstetric care, fetal... |