scholarly journals An aborted case suspected to CHARGE Syndrome; A rare case with cardiac, intestinal and kidney abnormalities

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Shahriar Ahmadpour ◽  
Khadijeh Foghi ◽  
Faezeh Rezaei
Keyword(s):  
Rare Case ◽  
Septal Defect ◽  
Driving Forces ◽  
Ductus Arteriosus ◽  
Left Kidney ◽  
Charge Syndrome ◽  
Case Presentation ◽  
Life Threatening ◽  
Genitourinary Anomalies ◽  
Ear Anomalies

Abstract Background CHARGE syndrome is a life-threatening congenital anomaly. The syndrome associations consist of coloboma, heart disease, atresia of the choanae, retarded growth and development, genital hypoplasia/genitourinary anomalies, and ear anomalies and or hearing loss. The aim of this paper is to describe and discuss a rare case of CHARGE syndrome. Case presentation During the routine dissection, atrial septal defect, overriding aorta from both ventricles, patent ductus arteriosus, duodenal anomaly, absent pancreas, right side descending and sigmoid, intestinal herniation in lesser sac, and left kidney anomaly were observed. Conclusions This rare case is of importance in re-considering the criteria of CHARGE and understanding the importance of the orchestrated morphologic driving forces of embryonic development.

scholarly journals Perforation of the atrial wall and aortic sinus after closure of an atrial septal defect with an Atriasept occluder: a case report

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Zai-Qiang Zhang ◽  
Jia-Wang Ding
Keyword(s):  
Case Report ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Emergency Operation ◽  
Atrial Wall ◽  
Aortic Sinus ◽  
Case Presentation ◽  
Lethal Complications ◽  
Life Threatening

Abstract Background While the perforation of the atrial wall and aortic sinus after closure of an atrial septal defect (ASD) is rare, it’s life-threatening, with rapid progress and high mortality. To the best of our knowledge, 21 similar cases have been reported since 1976. Case presentation We report a 16-year-old male whose atrial septal defect (ASD) was closed using a 12-mm Amplatzer septal occluder (ASO). Atrial wall and aortic sinus perforation occurred 3 months after transcatheter closure, and the patient was discharged after emergency operation. He was discharged on the 12th postoperative day in good overall condition. Conclusions With this case report, we want to illustrate that although percutaneous closure of ASD is regarded as a routine procedure, we should not forget the potentially lethal complications, especially cardiac erosion. Therefore, we should carefully evaluate the risk of erosion before surgery, and careful lifelong follow-up is needed.

scholarly journals A Rare Case of Cysticercosis Involving the Whole Spinal Canal

2021 ◽  
Author(s):  
Xiaoyan Zheng ◽  
Fei Wang ◽  
Lei Wang ◽  
Xiaoli Li ◽  
Jingjing Li ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Spinal Canal ◽  
Rare Case ◽  
Parasitic Disease ◽  
Epidemiological Investigation ◽  
Case Presentation ◽  
Life Threatening ◽  
The Central Nervous System

Abstract Background Cysticercosis is the commonest parasitic disease to affect the central nervous system (CNS). However, cysticercosis affecting the spine is extremely rare. We reported a rare case of cysticercosis involving the whole spinal canal in China. Case Presentation A rare case of cysticercosis involving the entire spinal cord, in a 52-year-old Chinese man, was detected in 2021. Epidemiological investigation, clinical and etiological examination was performed. Conclusion Since spinal cysticercosis is a rare but potentially life-threatening disease, clinicians should always consider the differential diagnosis of space-occupying lesions.

scholarly journals Intact survival from severe cardiogenic shock caused by the first attack of atrial tachycardia treated with extracorporeal membrane oxygenation and surgical left atrium appendage resection: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Tatsuhiko Shimizu ◽  
Tomoyuki Kanazawa ◽  
Takanobu Sakura ◽  
Kazuyoshi Shimizu ◽  
Tatsuo Iwasaki
Keyword(s):  
Extracorporeal Membrane Oxygenation ◽  
Left Atrial ◽  
Rare Case ◽  
Atrial Tachycardia ◽  
Left Atrial Appendage ◽  
Surgical Ablation ◽  
Case Presentation ◽  
Membrane Oxygenation ◽  
Life Threatening ◽  
Threatening Situation

Abstract Background Atrial tachycardia (AT) is rare in children and can usually be reversed to sinus rhythm with pharmacotherapy and cardioversion. We report a rare case of severe left-sided heart failure due to refractory AT. Case presentation A 12-year-old boy had AT with a heart rate of 180 beats/minute, which was refractory to any medication and defibrillation despite the first attack. Due to rapid cardiorespiratory collapse shortly after arriving at our hospital, central extracorporeal membrane oxygenation (ECMO) with left arterial venting was started immediately. Although AT persisted after that, it stopped on the 3rd day after admission following surgical resection of the left atrial appendage thought to be the source of AT. He was weaned off ECMO on the 7th day and ventilator on the 14th day. Conclusions The appropriate timing of central ECMO and surgical ablation were effective in saving this child from a life-threatening situation caused by refractory AT.

scholarly journals A rare case of sorafenib-induced severe hyponatremia

2019 ◽  
Vol 7 ◽  
pp. 2050313X1984604 ◽  
Author(s):  
Misbahuddin Khaja ◽  
Frantz Torchon ◽  
Konstantin Millerman
Keyword(s):  
Rare Case ◽  
Kinase Inhibitor ◽  
Cell Cancer ◽  
Hepatocellular Cancer ◽  
Abnormal Liver Function Test ◽  
Serious Adverse Event ◽  
Case Presentation ◽  
Function Test ◽  
Hand Foot Syndrome ◽  
Life Threatening

Background: Sorafenib is an anti-angiogenic tyrosine kinase inhibitor used to treat patients with renal cell cancer and advanced hepatocellular cancer. Common adverse effects of sorafenib are rash, diarrhea, nausea, and abnormal liver function test and hand-foot syndrome. Case presentation: Here, we present a case of a 90-year-old male who was prescribed sorafenib after being diagnosed with hepatocellular cancer. At 1 week after sorafenib initiation, he was admitted to the emergency room for an evaluation of weakness. The patient had hyponatremia, a common electrolyte abnormality seen in cancer patients. His hyponatremia improved when the sorafenib was stopped, suggesting that this was a rare case of hyponatremia induced by sorafenib. Conclusion: Although sorafenib is used in the treatment of hepatocellular cancer, it can cause life-threatening complication such as hyponatremia. Early identification of the cause of hyponatremia can prevent serious adverse event.

scholarly journals Coronal clival cleft in CHARGE syndrome

2017 ◽  
Vol 30 (6) ◽  
pp. 574-577 ◽  
Author(s):  
Eman Mahdi ◽  
Matthew T Whitehead
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Genetic Disorder ◽  
Ductus Arteriosus ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Craniocervical Junction ◽  
Undescended Testes ◽  
Ear Anomalies ◽  
Patent Ductus

CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome. The presence of a coronal clival cleft should alert the radiologist to examine the ears, eyes, palate, choana, and olfactory centers for other signs of CHARGE syndrome.

scholarly journals A rare case presentation of acute myo-pericarditis in a patient with lupus flare

2021 ◽  
Vol 11 (1) ◽  
pp. 21-22
Author(s):  
Luis Caraballo
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Rare Case ◽  
Inflammatory Disorder ◽  
Systemic Lupus ◽  
First Line ◽  
Case Presentation ◽  
First Line Therapy ◽  
Life Threatening ◽  
Autoimmune Etiology

Systemic lupus erythematosus (SLE) is a chronic, multisystem, inflammatory disorder of autoimmune etiology of unknown cause. Cardiac involvement during systemic lupus erythematosus (SLE) may include the pericardium, myocardium, valvular disease, including Libman-Sacks endocarditis, and coronary arteries. Myocarditis is a severe unusual feature most common in African-American that can be asymptomatic with a prevalence of 8-25% in patients with systemic lupus erythematosus. Acute myo-pericarditis with subsequent heart failure is a life threatening complication of SLE that needs to get recognized early to prevent mortality to the patient. Steroids is the first line therapy in patients with acute myopericarditis. Here we present a rare case of SLE flare presenting as Acute myopericarditis.

scholarly journals Congenital Heart Surgery: Analysis of 102 Cases

2016 ◽  
Vol 30 (2) ◽  
pp. 58-60
Author(s):  
AKM Manzurul Alam ◽  
Istiaq Ahmed ◽  
Manzil Ahmed ◽  
Al Mamun Hossain
Keyword(s):  
Congenital Heart ◽  
Heart Surgery ◽  
Septal Defect ◽  
Heart Diseases ◽  
Ductus Arteriosus ◽  
Signs And Symptoms ◽  
Congenital Heart Surgery ◽  
Corrective Surgery ◽  
Life Threatening

Congenital heart diseases (CHDs) are a group of problems in the structure of the heart that is present at birth. Signs and symptoms depend on the specific type of problem. Symptoms can vary from none to life-threatening. CHD is prevalent throughout the world including Bangladesh. It is the leading cause of birth defect-related death. Most of the patients with CHDs need corrective surgery and life-long follow up with heart care. In this series, 102 cases of CHD patients were operated, 82 of them were of atrial septal defect (ASD), 12 ventricular septal defect (VSD), 2 Tetralogy of Fallot (TOF) and 6 patent ductus arteriosus (PDA). Operative and post-operative periods were uneventful. There were no major complications including death.Bangladesh Heart Journal 2015; 30(2) : 58-60

scholarly journals Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment

2021 ◽  
Author(s):  
Cathleen Collins ◽  
Emily Sharpe ◽  
Abigail Silber ◽  
Sarah Kulke ◽  
Elena W. Y. Hsieh
Keyword(s):  
Heart Defects ◽  
Severe Combined Immunodeficiency ◽  
Clinical Manifestations ◽  
Charge Syndrome ◽  
Normal Numbers ◽  
Graft Versus Host ◽  
Thymus Tissue ◽  
Genitourinary Anomalies ◽  
Ear Anomalies ◽  
Increased Susceptibility

AbstractCongenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth and development, Genitourinary anomalies, and Ear anomalies), and Complete DiGeorge Syndrome. Congenital athymia can result from defects in genes that impact thymic organ development such as FOXN1 and PAX1 or from genes that are involved in development of the entire midline region, such as TBX1 within the 22q11.2 region, CHD7, and FOXI3. Patients with congenital athymia have profound immunodeficiency, increased susceptibility to infections, and frequently, autologous graft-versus-host disease (GVHD). Athymic patients often present with absent T cells but normal numbers of B cells and Natural Killer cells (T−B+NK+), similar to a phenotype of severe combined immunodeficiency (SCID); these patients may require additional steps to confirm the diagnosis if no known genetic cause of athymia is identified. However, distinguishing athymia from SCID is crucial, as treatments differ for these conditions. Cultured thymus tissue is being investigated as a treatment for congenital athymia. Here, we review what is known about the epidemiology, underlying etiologies, clinical manifestations, and treatments for congenital athymia.

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