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Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child

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World Journal of Gastroenterology 2008年第18期14卷 2939-2941页

作者： anselm chi-wai lee Kin-Hung Poon Wing-Hong Lo Lap-Gate Wong Department of Pediatrics & Adolescent Medicine Tuen Mun Hospital New Territories Hong Kong 999077 China Department of Clinical Pathology Tuen Mun Hospital New Territories Hong Kong 999077 China

A 10-year-old chinese boy who had a history of congenital thrombocytopathy presented with severe iron deficiency anemia secondary to chronic gastric inflammation and duodenal ulcerations. Subtle oculocutaneous albinism led to the finding of diminished dense bodies in the platelets under electron microscopy, hence the diagnosis of Hermansky-Pudlak syndrome (HPS). Biopsies from the stomach and duodenum revealed a lymphocytic infiltration in the submucosa, but H pylori infection was absent. The gastroduodenitis responded to the treatment with omeprazole while iron deficiency anemia was corrected by oral iron therapy. HPS is a rare cause of congenital bleeding disorder with multisystemic manifestations. Upper gastrointestinal involvement is rare and should be distinguished from a mere manifestation of the bleeding diathesis.

关键词：白化病十二指肠溃疡肠炎并发症

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High resolution HLA-matched unrelated donor hematopoietic stem cell transplantation may be considered a first line therapy for children with severe aplastic anemia

High resolution HLA-matched unrelated donor hematopoietic st...

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中华医学会第十七次全国儿科学术大会

作者： Yasuhiro Okamoto Godfrey chi-fung CHAN Suradej Hongeng TAN Poh Lin TAN Ah Moy Kleebsabai Sanpakit anselm lee Shanghai Jiao Tong University School of Medicine Shanghai Children Prince of Wales Hospital Hong Kong Kagoshima University Medical and Dental Hospital Japan Queen Mary Hospital the University of Hong Kong Faculty of Medicine Ramathibodi Hospital Mahidol University Thailand National University Health System Singapore KK Women’s and children’s Hospital Singapore Faculty of Medicine Siriraj hospital Mahidol UniversityThailand Nanfang Hospital Southern Medical University China Mount Elizabeth Hospital Singapore

From August 2000 to November 2011,127 children under the age of 18 years with acquired severe aplastic anemia(SAA) received hematopoietic stem cell transplantation(HSCT) in one of the 10 Asia Pacific institutions of the VABMT Consortium,including 53 with matched sibling donor(MSD) and 74 with alternative donor(AD).Among these 74 AD,22 were matched unrelated donor(MUD), 32 were mismatched unrelated donor(MMUD) and 20 were mismatched related donor(MMRD).

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Management of thoracoabdominal neuroblastoma:a 13-year experience

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World Journal of Pediatric Surgery 2019年第2期2卷 47-52页

作者： Chan Hon Chui anselm lee Surgery Centre for children SingaporeSingapore children's Haematology and Cancer Centre SingaporeSingapore

background Thoracoabdominal neuroblastoma is a unique surgical *** reviewed our experience focusing on disease patterns and corresponding surgical *** Among 310 patients in our neuroblastoma database,30(9.7%)had thoracoabdominal ***’clinical charts were reviewed and *** disease patterns were identified:solitary thoracoabdominal tumor(group A,n=15)and multifocal tumors in thorax and abdomen(group B,n=15).Operative approaches were categorized based on routes of surgical *** Thirty patients with average age of 4.1(range 0.8-12.8)years were *** received preoperative *** 15 group A patients,four were stage 3 intermediate risk(IR)and 11 were stage 4 high risk(HR).Surgical approaches included single-incision thoracoabdominal approach(n=10),laparotomy-cum-transdiaphragmatic approach(n=3),and laparotomy-cum-thoracotomy approach(n=2).One patient had 10%residual disease and the rest achieved gross total *** complications included chylous ascites(n=3),intestinal obstruction(n=3),pneumonia(n=1),spinal cord infarction(n=1)scoliosis(n=2)and thoracoabdominal nerves palsy(n=3).Among 15 group B patients,all were stage 4 with five IR and 10 *** components were found in the posterior mediastinum(n=7),superior mediastinum(n=4),middle mediastinum(n=1),parietal pleura(n=3)and lungs(n=3).Surgical approaches included multi-incision laparotomy-cum-thoracotomy(n=14)and laparotomy-cum-transdiaphragmatic approach(n=1).Gross total resection was achieved in all *** complications included chylous ascites(n=3).Overall,all nine IR patients survived without evidence of disease and 9(42.8%)HR patients died of *** was no perioperative *** Surgical resection of thoracoabdominal neuroblastoma is feasible and *** its complexity,thoracoabdominal neuroblastoma has comparable treatment outcomes when compared with single-compartmental disease

关键词： neuroblastoma abdominal chemotherapy

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血管性血友病Ⅲ型误诊为血友病A一例

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中华儿科杂志 2007年第12期45卷 950-950页

作者：李志伟李泽荷黄立己香港新界青松观道屯门医院儿童及青少年科香港新界青松观道屯门医院病理部

患儿男，15岁，因右足踝肿痛及背部肌肉疼痛于2006年6月入院。患儿出生后3个月因自发性出血及创伤后流血不止，多次诊断为血友病A（因子Ⅷ水平1％）。患儿反复出现关节腔出血；并在2岁时并发颅内出血，接受因子Ⅷ浓缩制剂替代治疗。13... 详细信息

患儿男，15岁，因右足踝肿痛及背部肌肉疼痛于2006年6月入院。患儿出生后3个月因自发性出血及创伤后流血不止，多次诊断为血友病A（因子Ⅷ水平1％）。患儿反复出现关节腔出血；并在2岁时并发颅内出血，接受因子Ⅷ浓缩制剂替代治疗。13岁时曾因不明严重血便导致急性重度贫血，血红蛋白降至40g／L。患儿胞妹10岁因自发性出血进行实验室检查，活化部分凝血活酶时间（AFTT）为69．3s，

关键词：血友病A 血管性血友病活化部分凝血活酶时间自发性出血误诊 Ⅲ型急性重度贫血实验室检查

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High resolution HLA-matched unrelated donor hematopoietic stem cell transplantation may be considered a first line therapy for children with severe aplastic anemia

High resolution HLA-matched unrelated donor hematopoietic st...

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2012年江浙沪儿科学术年会暨浙江省医学会儿科学分会学术年会、儿内科疾病诊治新进展国家级学习班

作者： Jing Chen Cheng Juan Luo chi Kong LI Yasuhiro Okamoto Godfrey chi-fung CHAN Suradej Hongeng TAN Poh Lin TAN Ah Moy Kleebsabai Sanpakit Chun Fu LI Shanghai Jiao Tong University School of Medicine Shanghai Children’s Medical Centre Prince of Wales Hospital Kagoshima University Medical and Dental Hospital Japan Queen Mary Hospital the University of Hong Kong Faculty of Medicine Ramathibodi Hospital Mahidol University Thailand National University Health System KK Women’s and children’s Hospital Faculty of Medicine Siriraj hospital Mahidol University Nanfang Hospital Southern Medical University Mount Elizabeth Hospital Singapore Anselm LEE and for Viva-Asia Blood and Marrow Transplantation (VABMT) Group

From August 2000 to November 2011, 127 children under the age of 18 years with acquired severe aplastic anemia (SAA) received hematopoietic stem cell transplantation (HSCT) in one of the 10 Asia Pacific institutions of the VABMT Consortium, including 53 with matched sibling donor (MSD) and 74 with alternative donor (AD). Among these 74 AD, 22 were matched unrelated donor (MUD), 32 were mismatched unrelated donor (MMUD) and 20 were mismatched related donor (MMRD). Although the MSD group developed less grade

关键词： HLA High resolution HLA-matched unrelated donor hematopoietic stem cell transplantation may be considered a first line therapy for children with severe aplastic anemia

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