We report a patient with severe ataxia due to Dandy-Walker malformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was d...We report a patient with severe ataxia due to Dandy-Walker malformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was diagnosed with Dandy-Walker syndrome and six age- and sex-matched healthy control subjects were enrolled. The superior cerebellar peduncle, the middle cerebellar peduncle, and the inferior cerebellar peduncle were evaluated using fractional anisotropy and the apparent diffusion coefficient. The patients＇ functional ambulation category was 0 at the initial visit, but improved to 2 at the follow-up evaluation, and Berg＇s balance scale score also improved from 0 to 7. Initial diffusion tensor tractography revealed that the inferior cerebellar peduncle was not detected, that the fractional anisotropy of the superior cerebellar peduncle and middle cerebellar peduncle decreased by two standard deviations below, and that the apparent diffusion coefficient increased by two standard deviations over normal control values. However, on follow-up diffusion tensor tractography, both inferior cerebellar peduncles could be detected, and the fractional anisotropy of superior cerebellar peduncle increased to within two standard deviations of normal controls. The functional improvement in this patient appeared to correspond to changes in these cerebellar peduncles. We believe that evaluating cerebellar peduncles using diffusion tensor imaging is useful in cases when a cerebellar peduncle lesion is suspected.展开更多
Among all congenital heart disease,Ebstein anomaly is the lesion with the widest spectrum of presentation.It can present as early as the neonatal period where immediate intervention is often needed to the adult with n...Among all congenital heart disease,Ebstein anomaly is the lesion with the widest spectrum of presentation.It can present as early as the neonatal period where immediate intervention is often needed to the adult with no discernable symptoms.It is also one where overall outcome greatly relates to age at presentation.Generally,presentation in the neonatal period is associated with poor outcomes while presentation beyond the neonatal period has excellent outcomes with low operative mortality.It is thus apparent that understanding every aspect of the anatomy and physiology of Ebstein anomaly and how it manifests clinically is paramount to successful treatment.The purpose of this review is to outline the current concepts and strategies in the surgical management of Ebstein anomaly,and to discuss the current expert consensus on how best to tackle this congenital heart disease at different ages of diagnosis.展开更多
Introduction: Congenitally corrected transposition of the great arteries (cc-TGA) is a congenital heart disease rarely described among adult population, especially if it is associated with other abnormalities such as ...Introduction: Congenitally corrected transposition of the great arteries (cc-TGA) is a congenital heart disease rarely described among adult population, especially if it is associated with other abnormalities such as Ebstein’s anomaly and abnormal origin of coronary arteries. Case presentation: Twenty-two-year-old woman admitted to intensive care unit with acute decompensated heart failure. The transthoracic echocardiography demonstrated atrioventricular and ventriculoarterial discordance. The left-sided atrioventricular valve, in this case, the tricuspid valve, showed apical displacement of the septal valve suggesting Ebstein’s anomaly. The computed tomography corroborated these findings and additionally showed a left superior vena cava and an abnormal origin of the coronary arteries. The patient is in NYHA functional class II, receiving treatment with diuretic, digitalis, beta-blockers and angiotensin-converting enzyme (ACE) inhibitor. Conclusion: This is a very interesting case of an adult in the third decade of life with cc-TGA associated with abnormalities not described in the literature that had reached adulthood. Noninvasive images play an important role in its diagnosis.展开更多
Aim: To present the various echocardiographic spectrum of Ebstein’s mal-formation in adolescence and adults. Introduction: Ebstein’s anomaly has different anatomic and hemodynamic variables with clinical manifestati...Aim: To present the various echocardiographic spectrum of Ebstein’s mal-formation in adolescence and adults. Introduction: Ebstein’s anomaly has different anatomic and hemodynamic variables with clinical manifestations of cyanosis, right-sided heart failure and arrhythmias. The leaflet tethering and dysplasia, together with dilatation of the tricuspid valve ring, constitute the anatomic cause of tricuspid regurgitation observed in this condition. Case Reports: The spectrum of leaflet tethering from mild to extreme with varying degrees of tricuspid regurgitation were documented by echocardiography in a 16-year-old cyanotic male with Ebstein’s anomaly associated with an atrial septal defect and mild low tricuspid regurgitation (TR), 22-year-old acyanotic male with right-sided heart failure due to severe tricuspid regurgitation and an intact atrial septum, 55-year-old asymptomatic female with moderate high tricuspid regurgitation. The extreme form was described as an “atretic” mem-brane in a 28-year-old cyanotic male and as a “blanket” of leaflet tissue in a 30-year-old cyanotic male. Conclusion: Ebstein’s anomaly has to be sus-pected clinically in presence of cyanosis with a WPW (Wolf-Parkinson-White) or atrioventricular (AV) block pattern of ECG and its management is complex and must be individualized. RV (right ventricular) exclusion procedures are preferred in advanced cases.展开更多
Ebstein disease is a rare congenital malformation whose clinical presentation differs according to the anatomical form and age of the patient. In adults, it presents mainly in the form of right or global heart failure...Ebstein disease is a rare congenital malformation whose clinical presentation differs according to the anatomical form and age of the patient. In adults, it presents mainly in the form of right or global heart failure or rhythm disorders. Survival is exceptionally long in some forms. We report the case of a 70-year-old patient with Ebstein’s disease in right heart failure.展开更多
Over the last two decades, advances in laparoscopic surgery and minimally invasive techniques have transformed the operative management of neonatal colorectal surgery for conditions such as anorectal malformations (AR...Over the last two decades, advances in laparoscopic surgery and minimally invasive techniques have transformed the operative management of neonatal colorectal surgery for conditions such as anorectal malformations (ARMs) and Hirschsprung’s disease. Evolution of surgical care has mainly occurred due to the use of laparoscopy, as opposed to a laparotomy, for intra-abdominal procedures and the development of trans-anal techniques. This review describes these advances and outlines the main minimally invasive techniques currently used for management of ARMs and Hirschsprung’s disease. There does still remain significant variation in the procedures used and this review aims to report the current literature comparing techniques with an emphasis on the short- and long-term clinical outcomes.展开更多
基金supported by the Basic Scientific Research Program of National Research Foundation of Korea Funded by Ministry of Education, Science and Technology, No.2011-0003426
文摘We report a patient with severe ataxia due to Dandy-Walker malformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was diagnosed with Dandy-Walker syndrome and six age- and sex-matched healthy control subjects were enrolled. The superior cerebellar peduncle, the middle cerebellar peduncle, and the inferior cerebellar peduncle were evaluated using fractional anisotropy and the apparent diffusion coefficient. The patients＇ functional ambulation category was 0 at the initial visit, but improved to 2 at the follow-up evaluation, and Berg＇s balance scale score also improved from 0 to 7. Initial diffusion tensor tractography revealed that the inferior cerebellar peduncle was not detected, that the fractional anisotropy of the superior cerebellar peduncle and middle cerebellar peduncle decreased by two standard deviations below, and that the apparent diffusion coefficient increased by two standard deviations over normal control values. However, on follow-up diffusion tensor tractography, both inferior cerebellar peduncles could be detected, and the fractional anisotropy of superior cerebellar peduncle increased to within two standard deviations of normal controls. The functional improvement in this patient appeared to correspond to changes in these cerebellar peduncles. We believe that evaluating cerebellar peduncles using diffusion tensor imaging is useful in cases when a cerebellar peduncle lesion is suspected.
文摘Among all congenital heart disease,Ebstein anomaly is the lesion with the widest spectrum of presentation.It can present as early as the neonatal period where immediate intervention is often needed to the adult with no discernable symptoms.It is also one where overall outcome greatly relates to age at presentation.Generally,presentation in the neonatal period is associated with poor outcomes while presentation beyond the neonatal period has excellent outcomes with low operative mortality.It is thus apparent that understanding every aspect of the anatomy and physiology of Ebstein anomaly and how it manifests clinically is paramount to successful treatment.The purpose of this review is to outline the current concepts and strategies in the surgical management of Ebstein anomaly,and to discuss the current expert consensus on how best to tackle this congenital heart disease at different ages of diagnosis.
文摘Introduction: Congenitally corrected transposition of the great arteries (cc-TGA) is a congenital heart disease rarely described among adult population, especially if it is associated with other abnormalities such as Ebstein’s anomaly and abnormal origin of coronary arteries. Case presentation: Twenty-two-year-old woman admitted to intensive care unit with acute decompensated heart failure. The transthoracic echocardiography demonstrated atrioventricular and ventriculoarterial discordance. The left-sided atrioventricular valve, in this case, the tricuspid valve, showed apical displacement of the septal valve suggesting Ebstein’s anomaly. The computed tomography corroborated these findings and additionally showed a left superior vena cava and an abnormal origin of the coronary arteries. The patient is in NYHA functional class II, receiving treatment with diuretic, digitalis, beta-blockers and angiotensin-converting enzyme (ACE) inhibitor. Conclusion: This is a very interesting case of an adult in the third decade of life with cc-TGA associated with abnormalities not described in the literature that had reached adulthood. Noninvasive images play an important role in its diagnosis.
文摘Aim: To present the various echocardiographic spectrum of Ebstein’s mal-formation in adolescence and adults. Introduction: Ebstein’s anomaly has different anatomic and hemodynamic variables with clinical manifestations of cyanosis, right-sided heart failure and arrhythmias. The leaflet tethering and dysplasia, together with dilatation of the tricuspid valve ring, constitute the anatomic cause of tricuspid regurgitation observed in this condition. Case Reports: The spectrum of leaflet tethering from mild to extreme with varying degrees of tricuspid regurgitation were documented by echocardiography in a 16-year-old cyanotic male with Ebstein’s anomaly associated with an atrial septal defect and mild low tricuspid regurgitation (TR), 22-year-old acyanotic male with right-sided heart failure due to severe tricuspid regurgitation and an intact atrial septum, 55-year-old asymptomatic female with moderate high tricuspid regurgitation. The extreme form was described as an “atretic” mem-brane in a 28-year-old cyanotic male and as a “blanket” of leaflet tissue in a 30-year-old cyanotic male. Conclusion: Ebstein’s anomaly has to be sus-pected clinically in presence of cyanosis with a WPW (Wolf-Parkinson-White) or atrioventricular (AV) block pattern of ECG and its management is complex and must be individualized. RV (right ventricular) exclusion procedures are preferred in advanced cases.
文摘Ebstein disease is a rare congenital malformation whose clinical presentation differs according to the anatomical form and age of the patient. In adults, it presents mainly in the form of right or global heart failure or rhythm disorders. Survival is exceptionally long in some forms. We report the case of a 70-year-old patient with Ebstein’s disease in right heart failure.
文摘Over the last two decades, advances in laparoscopic surgery and minimally invasive techniques have transformed the operative management of neonatal colorectal surgery for conditions such as anorectal malformations (ARMs) and Hirschsprung’s disease. Evolution of surgical care has mainly occurred due to the use of laparoscopy, as opposed to a laparotomy, for intra-abdominal procedures and the development of trans-anal techniques. This review describes these advances and outlines the main minimally invasive techniques currently used for management of ARMs and Hirschsprung’s disease. There does still remain significant variation in the procedures used and this review aims to report the current literature comparing techniques with an emphasis on the short- and long-term clinical outcomes.
