Hereditary Hemorrhagic telangiectasia: a rare familial case with delayed diagnosis despite decades of recurrent bleeding [0.03%]
罕见的遗传性出血性血管畸形家系病例——反复出血数十年后才得以诊断
Ashutosh Vardhan Rahi,Abhishek Kumar,Jitendra Singh et al.
Ashutosh Vardhan Rahi et al.
Hereditary Hemorrhagic Telangiectasia (HHT), or Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations (AVMs). We report the case of...
Donohue syndrome with a homozygous INSR exon 14 deletion: a case report [0.03%]
INSR基因第14外显子纯合缺失导致的唐诺休综合征1例报告
José Daniel Almazán Monroy,Arodys Julianny Valle Martinez,Sara Elizabeth Milla Salguero et al.
José Daniel Almazán Monroy et al.
Donohue syndrome (DS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in insulin receptor (INSR), leading to severe insulin resistance. It is characterized by extreme hyperinsulinemia, fasting ...
Autoimmune enteropathy in an infant, a rare entity possibly triggered in utero [0.03%]
胎儿期可能发病的婴幼儿自身免疫性肠病病例报告
Sava Grujic,George Gershman
Sava Grujic
Autoimmune enteropathy is a rare immune mediated disorder with incidence of less than 1 in 100 000 that primarily involves infants and children. It characterized by severe and protracted diarrhea, weight loss and immune-mediated damage to t...
Asmae Sikkal,Maha Abdallaoui,Salma Bellakhdar et al.
Asmae Sikkal et al.
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a newly recognized demyelinating disease with diverse clinical and radiological manifestations that continue to expand over time. Its coexistence with Behçet's dise...
Candida graft arteritis after kidney transplantation: two cases and literature review [0.03%]
肾移植术后念珠菌移植物动脉炎：2例报告及文献复习
Tirlangi Praveen Kumar,Attur Ravindra Prabhu,Pothumarthy Venkata Swathi Kiran et al.
Tirlangi Praveen Kumar et al.
Background: Candida arteritis of a kidney allograft represents a severe yet rare complication in transplant recipients. Its nonspecific presentation and diagnostic difficulties necessitate a high level of clinical suspici...
Panagiotis Alexandros Drakos,Antonia A Prountzopoulou,Efrossini Totskas et al.
Panagiotis Alexandros Drakos et al.
Rectal large cell neuroendocrine carcinoma (LCNEC) is an exceedingly rare and aggressive neoplasm with a poor prognosis and median survival of 4-16 months. Diagnosis is challenging due to the clinical overlap with classical colorectal adeno...
Vijayakumar Balaraddi,Ketaki Nawlakhe,Shilpa K et al.
Vijayakumar Balaraddi et al.
Neonates with oculocutaneous albinism who exhibit additional systemic involvement need heightened clinical vigilance and prompt genetic testing. This is a case of a sick dysmorphic late preterm neonate with oculocutaneous albinism, hepatosp...
Recurrent pulmonary embolism and azygos vein thrombosis during varenicline therapy for smoking cessation [0.03%]
伐尼克兰戒烟治疗期间反复发生的肺栓塞和副半奇静脉血栓形成
Stanley Kim,BreeAnna Carlson,Kevin Chen et al.
Stanley Kim et al.
Venous thromboembolism (VTE) associated with varenicline is extremely rare. We present the case of a young woman who experienced two distinct episodes of pulmonary embolism (PE) while taking varenicline. The patient developed her first epis...
A rare case of synchronous breast cancer metastasis to colonic and gastric mucosa-case report and review of literature [0.03%]
乳腺癌同步转移至结肠和胃黏膜的罕见病例——病例报告及文献回顾
Zoha Asghar,Zubaid Moazzam Sheikh,Lubna Saleem
Zoha Asghar
Distant metastasis from primary breast cancer typically affects the brain, liver, lungs, and bones. Less than 1% of patients exhibit metastasis to the stomach or colon, mimicking primary gastrointestinal tumors upon initial presentation. He...
A rare case of Langerhans cell histiocytosis with unexplained endocrine dysfunction and extensive skeletal involvement in a Pediatric patient [0.03%]
儿科患者朗格汉斯细胞组织细胞增生症伴不明原因的内分泌功能障碍和广泛骨骼受累的一个罕见病例报告
Carlos Díaz Q,Marcos Orellana,Rolando Chajon et al.
Carlos Díaz Q et al.
Langerhans cell histiocytosis (LCH) is a rare disorder in which Langerhans cells infiltrate various organs, causing damage to tissues. This case describes a 6-year-old male diagnosed with LCH, who presented with worsening symptoms of fatigu...