Vein of galen aneurysmal malformations: an ultrasonographic incidental finding-a case report [0.03%]
静脉曲张动脉瘤样畸形的超声偶然发现：一例报告
S Stephan,G Rodesch,E Elolf et al.
S Stephan et al.
Background. The Vein of Galen aneurysmal malformation (VGAM) is a rare congenital, cerebral, arteriovenous deformity. Good cross-discipline cooperation is in demand because of associated complications and high mortality. The recognition of ...
Life-threatening obstructive sleep apnea caused by adenoid hypertrophy in an infant with noonan syndrome [0.03%]
巨大腺样体导致 Noonan 综合征婴儿出现危及生命的阻塞性睡眠呼吸暂停
Sonia Khirani,Nicolas Leboulanger,Adriana Ramirez et al.
Sonia Khirani et al.
Adenoidectomy is a commonly performed surgery in children, even though its effectiveness is still under investigation. However, in children with risk factors such as age under 3 years old, associated comorbidities, or severe obstructive sle...
A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities [0.03%]
一名伴有学习障碍的患者发生一个新的9号染色体长臂远端（9q34.3）微重复插入19号染色体近端事件（19q13.4）综合征病例报告
Shalinder Singh,Fern Ashton,Renate Marquis-Nicholson et al.
Shalinder Singh et al.
Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chro...
Torticollis as the main presentation in a child with russell-silver syndrome: a case report [0.03%]
Russell-Silver综合征患儿以斜颈为主要表现1例报告
Mohsen Javadzadeh,Hedieh Saneifard,Amir Hossein Hosseini
Mohsen Javadzadeh
Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years. The main clinical features include low birth wei...
Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease [0.03%]
X-连锁型慢性肉芽肿病中残余NADPH氧化酶活性与孤立性肺部受累的关系
Maria J Gutierrez,George D McSherry,Faoud T Ishmael et al.
Maria J Gutierrez et al.
Chronic granulomatous disease (CGD) is characterized by inherited immune defects resulting from mutations in the NADPH oxidase complex genes. The X-linked type of CGD is caused by defects in the CYBB gene that encodes gp91-phox, a fundament...
Atrial Fibrillation and Long QT Syndrome Presenting in a 12-Year-Old Girl [0.03%]
12岁女孩出现房颤和长QT综合征病例报告
Jonathan W Knoche,Kate M Orland,Craig T January et al.
Jonathan W Knoche et al.
Atrial fibrillation (AF) is rare in the pediatric population; however, there is increasing recognition that AF can be inherited. Long QT syndrome (LQTS), likewise, can be both acquired and inherited with mutations leading to abnormalities i...
Radiographically negative, asymptomatic, sentinel lymph node positive cutaneous T-cell lymphoma in a 3-year-old male: a case report [0.03%]
一例3岁男孩皮肤T细胞淋巴瘤的放射学检查阴性、无症状和哨点淋巴结阳性：病例报告
Jeffrey Carson,Jiri Bedrnicek,Shahab Abdessalam
Jeffrey Carson
We present a case of a 3-year-old male originally diagnosed with a CD30+ anaplastic cutaneous T-cell lymphoma with no evidence of systemic disease after CT scan, PET scan, and bone marrow aspiration. Sentinel lymph node biopsy (SLNB) was pe...
Mycophenolate mofetil-related enterocolitis and weight loss: a pediatric case series [0.03%]
他克莫司相关性肠炎和体重减轻的儿科病例报告
Dana M H Dykes,Sean R Moore,D Brent Polk et al.
Dana M H Dykes et al.
Mycophenolate mofetil (MMF) is an immunosuppressive medication utilized in the management of both autoimmune and solid organ transplant patients. Diarrhea is a common gastrointestinal side effect of MMF, but more severe forms of GI symptoms...
Male Child with Van Wyk-Grumbach's Syndrome and Other Complications of Long-Standing Primary Hypothyroidism: A Case Report [0.03%]
原发性甲状腺功能减退并发症所致Van Wyk-Grumbach综合征1例报告
Ahmed Omran,Jing Peng,Biswas Shrestha et al.
Ahmed Omran et al.
Primary hypothyroidism in the juvenile population generally leads to retardation of linear growth and delay or even arrest of puberty. However, in rare conditions, children with long-standing hypothyroidism present with signs of Van Wyk-Gru...
Stefania Cataldo,Giuseppe Alberto Annoni,Stefano Fiocchi et al.
Stefania Cataldo et al.
Myocardial ischemia in pediatric population is uncommon and usually due to congenital heart disease or extracardiac conditions leading to poor coronary perfusion. A 6-day-old newborn presented with respiratory distress and signs of heart fa...