BK Polyomavirus-Associated Kidney and Bladder Carcinomas Following Heart and Lung Transplantation in Childhood [0.03%]
儿童心脏和肺移植后 BK 多瘤病毒相关的肾脏和膀胱癌
Joseph Kimball,Jasmine Steele,Sara O Vargas et al.
Joseph Kimball et al.
BK polyomavirus-associated carcinoma of the kidney or bladder following cardiac or pulmonary transplantation has been reported in only 7 individuals, all but 1 being adults. We now report 2 additional pediatric patients, the first having re...
A Rare Cause of Genetic Liver Disease in Children: Transaldolase Deficiency with a Novel Pathogenic Variant in Two Siblings [0.03%]
儿童罕见遗传性肝病的原因：两名兄弟姐妹中发现新型致病突变的转醛糖酶缺乏症
Ozlem Sumer Cosar,Gulsum Kayhan,Gulen Akyol et al.
Ozlem Sumer Cosar et al.
Transaldolase deficiency is a rare autosomal recessive disease caused by biallelic mutations in the TALDO1 gene. This disorder is characterized by multisystem involvement, including liver disease. Here, we present 2 siblings with transaldol...
Histiocytic Sarcoma Arising From Pediatric Rosai Dorfman Disease: Two Novel Cases and Literature Review [0.03%]
儿科Rosai-Dorfman病发生郎格汉斯细胞组织细胞增生症二例及文献复习
Sam Sirotnikov,Rajeswari Jayakumar,Sunita Park et al.
Sam Sirotnikov et al.
Rosai-Dorfman Disease (RDD) is an uncommon histiocytic disorder that can affect lymph nodes and/or extranodal sites. It is marked by the accumulation of abnormal histiocytes that demonstrate emperipolesis-the active, non-destructive engulfm...
Patricia Okiro,Marc Hendricks,Komala Pillay
Patricia Okiro
Sex cord-stromal tumours (SCSTs) in children are rare gonadal neoplasms exhibiting differentiation towards sex cord stromal elements. This case series explores paediatric SCSTs, presenting clinical, gross, histologic, and immunohistochemica...
EWSR1 Fusion Driven Pediatric B-Acute Lymphoblastic Leukemia: Diagnosis and Review of Literature [0.03%]
EWSR1基因重排驱动的儿童B细胞急性淋巴细胞白血病：诊断及文献回顾
Molly Talman,Ashwani K Yenamandra,Yassmine Akkari et al.
Molly Talman et al.
B-lymphoblastic leukemia/lymphoma (B-ALL) is the most prevalent childhood malignancy, with improved survival rates attributed to advances in diagnosis and treatment. Herein, we present a case of B-ALL in a 6-year-old female who presented wi...
Chitayat Syndrome: A Rare Case of Respiratory Distress in a Preterm Infant [0.03%]
迟亚特综合征：早产儿呼吸困难的罕见病例报告
Gabriela Živković,Alen Švigir,Ivan Pavić et al.
Gabriela Živković et al.
Childhood interstitial lung diseases (chILDs) are rare respiratory conditions with significant mortality rates in neonates. They can be misdiagnosed as the symptoms overlap with other, more common neonatal diseases. Since chILD can be a man...
Case Report of Concomitant Pleuropulmonary Blastoma and Hepatoblastoma in a 25-Month-Old Child With a Germline DICER1 Pathogenic Variant [0.03%]
一名携带DICER1致病突变的25个月大儿童伴发肺泡发育不良和肝细胞癌病例报告
Diep Hong Pho,Thach Ngoc Hoang,Lan Ngoc Bui et al.
Diep Hong Pho et al.
Pleuropulmonary blastoma and hepatoblastoma are 2 well-recognized embryonal tumors of the thorax and liver respectively occurring in children. The simultaneous presentation of 2 or more pediatric embryonal tumors in the same patient is extr...
Meconium Periorchitis [0.03%]
胎粪污染所致附睾炎
Anusha Kulkarni,Kiruthiga Kala Gnanasekaran,Heena Shah et al.
Anusha Kulkarni et al.
Meconium periorchitis (MPO) is an unusual entity that presents as a scrotal mass in the early neonatal period and is seen in 1 in 30,000 live births. MPO is associated with meconium peritonitis, that leads to leakage of sterile meconium thr...
Spondylocostal Dysostosis-1 Associated With Pancreatic Heterotopia: Coincidence or True Association? [0.03%]
脊椎肋骨发育不全1型伴胰腺异位：偶然或真正关联？
Sihem Darouich,Samia Darouich,Ahmed Khemiri et al.
Sihem Darouich et al.
Spondylocostal dysostosis type 1 is caused by mutations in the DLL3 gene, which encodes a Notch1 ligand. These mutations lead to defective somitogenesis, resulting in a consistent pattern of abnormal vertebral segmentation. Disruptions in t...