Children with recurrent, severe infections that respond poorly to treatment are likely to have an underlying inborn error of immunity.
Case Report
A three-year-old male child of non-consanguineous parentage presented with recurrent severe infections from the neonatal period, including abscesses, pneumonia, diarrhea, meningitis, cystitis, and pyelonephritis. The child had subtle dysmorphic features. The dihydro rhodamine assay was abnormal, and the peripheral smear showed hypogranular, hypolobated neutrophils. Clinical exome sequencing revealed a homozygous variant in the SMARCD2 gene, confirming the diagnosis of specific granule deficiency 2. The child underwent a haploidentical hematopoietic transplant and is asymptomatic five months post-transplant. Conditioning chemotherapy included rabbit anti-thymocyte globulin/treosulphan/thiotepa/fludarabine. The CD34 dose infused was 15 x 106/kilogram recipient body weight. The infused product was TCR alpha/beta and CD19 depleted with preserved TCR gamma/delta cells.
Conclusion
This case demonstrates that although ultra-rare inborn errors of immunity are often diagnosed by next-generation sequencing, simple hematological and immunological tests provide valuable clues. Timely hematopoietic stem cell transplantation is curative.
病例报告一名非近亲结婚的三岁男童从新生儿期开始就反复出现严重感染，包括脓肿、肺炎、腹泻、脑膜炎、膀胱炎和肾盂肾炎。患儿有细微的畸形特征。二氢罗丹明检测结果异常，外周涂片显示中性粒细胞颗粒减少、分叶减少。临床外显子组测序显示，SMARCD2基因存在同源变异，确诊为特异性粒细胞缺乏症2（specific granule deficiency 2）。条件性化疗包括兔抗胸腺细胞球蛋白/曲妥珠单抗/噻替帕/氟达拉滨。输注的 CD34 剂量为 15 x 106/千克受者体重。该病例表明，虽然超罕见的先天性免疫错误通常通过下一代测序来诊断，但简单的血液学和免疫学检测也能提供有价值的线索。及时进行造血干细胞移植可治愈疾病。
{"title":"Curative hematopoietic stem cell transplantation in a child with specific granule deficiency due to a homozygous SMARCD2 variant","authors":"Janaki Menon , Revathi Raj , Shiny Padinjarayil Manakkad , Athulya Edavazhippurath , Priya Saravanan , Anjit Unnikrishnan , Ramya Uppuluri , Sheena Othayoth Kandy , Shammy Saphia , Kalpana George , Dhananjayan Dhanasooraj , Geeta Madathil Govindaraj","doi":"10.1016/j.phoj.2024.11.103","DOIUrl":"10.1016/j.phoj.2024.11.103","url":null,"abstract":"<div><h3>Background</h3><div>Children with recurrent, severe infections that respond poorly to treatment are likely to have an underlying inborn error of immunity.</div></div><div><h3>Case Report</h3><div>A three-year-old male child of non-consanguineous parentage presented with recurrent severe infections from the neonatal period, including abscesses, pneumonia, diarrhea, meningitis, cystitis, and pyelonephritis. The child had subtle dysmorphic features. The dihydro rhodamine assay was abnormal, and the peripheral smear showed hypogranular, hypolobated neutrophils. Clinical exome sequencing revealed a homozygous variant in the SMARCD2 gene, confirming the diagnosis of specific granule deficiency 2. The child underwent a haploidentical hematopoietic transplant and is asymptomatic five months post-transplant. Conditioning chemotherapy included rabbit anti-thymocyte globulin/treosulphan/thiotepa/fludarabine. The CD34 dose infused was 15 x 10<sup>6</sup>/kilogram recipient body weight. The infused product was TCR alpha/beta and CD19 depleted with preserved TCR gamma/delta cells.</div></div><div><h3>Conclusion</h3><div>This case demonstrates that although ultra-rare inborn errors of immunity are often diagnosed by next-generation sequencing, simple hematological and immunological tests provide valuable clues. Timely hematopoietic stem cell transplantation is curative.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 311-314"},"PeriodicalIF":0.0,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-31DOI: 10.1016/j.phoj.2024.10.155
Pragya Singh , Lekshmi R , Sweety Gupta , Ravi Roushan Kumar , Shreyosi Mandal , Mridul Khanna , Satya Sree Balija , Ravi Hari Phulware , Manoj Gupta
Background
Colon cancer is uncommon in children. This article reports a case of signet ring cell carcinoma in an 11-year-old child who presented with acute intestinal obstruction.
Case report
An 11-year-old boy presented with progressive abdominal distension associated with constipation. The child underwent an abdominal X-ray in the erect position which revealed dilated bowel loops. Contrast enhanced computed tomography abdomen reported circumferential thickening involving 3.5 cm of the mid-transverse colon. The child underwent exploratory laparotomy which revealed mid transverse colon tumor. Tumor was resected with side-to-side anastomosis. Postoperative histopathology showed signet ring cell carcinoma. He was started on adjuvant chemotherapy.
Conclusion
Surgery followed by adjuvant chemotherapy is the modality of treatment colorectal carcinoma. There are no screening guidelines available for the pediatric age group, however early diagnosis through colonoscopy screening can be considered to improve the prognosis.
背景结肠癌在儿童中并不常见。本文报告了一例因急性肠梗阻就诊的 11 岁儿童罹患印戒细胞癌的病例。该患儿在直立位接受了腹部 X 光检查，结果显示肠套叠扩张。腹部对比增强计算机断层扫描显示，中横结肠周缘增厚，涉及 3.5 厘米。患儿接受了探查性开腹手术，术中发现了中横结肠肿瘤。肿瘤切除后进行了侧对侧吻合术。术后组织病理学检查显示为标志环细胞癌。结论手术后辅助化疗是治疗结直肠癌的方式。目前还没有针对儿童年龄组的筛查指南，但可以考虑通过结肠镜筛查进行早期诊断，以改善预后。
{"title":"Signet cell carcinoma of the colon in an 11-year-old child: A case report and review of literature","authors":"Pragya Singh , Lekshmi R , Sweety Gupta , Ravi Roushan Kumar , Shreyosi Mandal , Mridul Khanna , Satya Sree Balija , Ravi Hari Phulware , Manoj Gupta","doi":"10.1016/j.phoj.2024.10.155","DOIUrl":"10.1016/j.phoj.2024.10.155","url":null,"abstract":"<div><h3>Background</h3><div>Colon cancer is uncommon in children. This article reports a case of signet ring cell carcinoma in an 11-year-old child who presented with acute intestinal obstruction.</div></div><div><h3>Case report</h3><div>An 11-year-old boy presented with progressive abdominal distension associated with constipation. The child underwent an abdominal X-ray in the erect position which revealed dilated bowel loops. Contrast enhanced computed tomography abdomen reported circumferential thickening involving 3.5 cm of the mid-transverse colon. The child underwent exploratory laparotomy which revealed mid transverse colon tumor. Tumor was resected with side-to-side anastomosis. Postoperative histopathology showed signet ring cell carcinoma. He was started on adjuvant chemotherapy.</div></div><div><h3>Conclusion</h3><div>Surgery followed by adjuvant chemotherapy is the modality of treatment colorectal carcinoma. There are no screening guidelines available for the pediatric age group, however early diagnosis through colonoscopy screening can be considered to improve the prognosis.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 307-310"},"PeriodicalIF":0.0,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-05DOI: 10.1016/j.phoj.2024.09.006
Jagdish Chandra, Pooja Dewan
{"title":"Updates in the diagnosis and management of hemolytic anemias","authors":"Jagdish Chandra, Pooja Dewan","doi":"10.1016/j.phoj.2024.09.006","DOIUrl":"10.1016/j.phoj.2024.09.006","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 287-288"},"PeriodicalIF":0.0,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-24DOI: 10.1016/j.phoj.2024.09.004
Azie Jumaatul Adawiyah Nabir , Chiew Yee Lau , Adilah W. Ab Rahim , Aliyyah Mohammad Khuzaini
Background
Meigs syndrome, pseudo-Meigs syndrome, and pseudo-pseudo-Meigs syndrome showcase a diagnostic challenge in the management of complex pediatric cases.
Case report
We report a case of a 6-year-old girl who presented with progressive breathlessness, lethargy, and constipation for two weeks, associated with multiple episodes of joint pain and polymorphous rash. Imaging of the thorax, abdomen, and pelvis suggested bilateral pleural effusion, ascites, and an ovarian mass with abdominal involvement. The pleural and peritoneal fluids were exudative in nature. Unfortunately, she was not fit for a biopsy of the mass and was treated in the intensive care unit for one month. She was initiated on oral corticosteroids for suspicion of an underlying auto-inflammatory disease. However, subsequent investigations yielded inconclusive results. She gradually recovered and was well for a year. She presented again with constitutional symptoms and was diagnosed with diffuse large B-cell lymphoma (DLBCL). Thus, it was retrospectively apparent that this was a case of pseudo-Meigs syndrome.
Conclusion
We describe an unusual presentation of DLBCL with a temporary resolution of symptoms.
病例报告我们报告了一例 6 岁女孩的病例，她出现进行性呼吸困难、嗜睡和便秘两周，伴有多次发作的关节疼痛和多形性皮疹。胸部、腹部和盆腔影像学检查提示双侧胸腔积液、腹水和腹部受累的卵巢肿块。胸腔和腹腔积液呈渗出性。不幸的是，她不适合对肿块进行活检，因此在重症监护室接受了一个月的治疗。由于怀疑有潜在的自身炎症，她开始口服皮质类固醇。然而，随后的检查并没有得出结论。她逐渐康复，并在一年后恢复健康。她再次出现全身症状，被诊断为弥漫大 B 细胞淋巴瘤（DLBCL）。结论我们描述了一个症状暂时缓解的 DLBCL 异常表现。
{"title":"Meigs syndrome, pseudo-Meigs syndrome, or pseudo-pseudo Meigs syndrome? A case report","authors":"Azie Jumaatul Adawiyah Nabir , Chiew Yee Lau , Adilah W. Ab Rahim , Aliyyah Mohammad Khuzaini","doi":"10.1016/j.phoj.2024.09.004","DOIUrl":"10.1016/j.phoj.2024.09.004","url":null,"abstract":"<div><h3>Background</h3><div>Meigs syndrome, pseudo-Meigs syndrome, and pseudo-pseudo-Meigs syndrome showcase a diagnostic challenge in the management of complex pediatric cases.</div></div><div><h3>Case report</h3><div>We report a case of a 6-year-old girl who presented with progressive breathlessness, lethargy, and constipation for two weeks, associated with multiple episodes of joint pain and polymorphous rash. Imaging of the thorax, abdomen, and pelvis suggested bilateral pleural effusion, ascites, and an ovarian mass with abdominal involvement. The pleural and peritoneal fluids were exudative in nature. Unfortunately, she was not fit for a biopsy of the mass and was treated in the intensive care unit for one month. She was initiated on oral corticosteroids for suspicion of an underlying auto-inflammatory disease. However, subsequent investigations yielded inconclusive results. She gradually recovered and was well for a year. She presented again with constitutional symptoms and was diagnosed with diffuse large B-cell lymphoma (DLBCL). Thus, it was retrospectively apparent that this was a case of pseudo-Meigs syndrome.</div></div><div><h3>Conclusion</h3><div>We describe an unusual presentation of DLBCL with a temporary resolution of symptoms.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 289-293"},"PeriodicalIF":0.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-16DOI: 10.1016/j.phoj.2024.09.005
Nabeel Al-Yateem , Fatma Refaat Ahmed , Seyed Aria Nejadghaderi
Background
The published experience with restrictive and liberal blood transfusion approaches in pediatric intensive care units (ICUs) is not extensive. We investigated the outcomes of restrictive compared to liberal transfusion strategies in critically ill children.
Methods
A search was conducted on PubMed, Embase, Scopus, and the Web of Science until February 16, 2024. The first 300 results from Google Scholar and records from the clinicaltrials.gov registry were manually screened. Backward and forward citation searches were also performed. We included randomized controlled trials examining outcome measures of children aged <18 years admitted to the ICUs who received restrictive methods for blood transfusion compared with the liberal one.
Results
Ten studies were included, with a pooled sample size of 2736. Half (50.8 %) were males; age ranged from 2.5 days to 73.7 months. The restrictive transfusion strategy significantly decreased the risk of nosocomial infections (risk ratio: 0.64; 95 % confidence interval: 0.42, 0.96) and also reduced hemoglobin levels (standardized mean difference: −2.92; 95 % CI: −4.48, −1.35), while there were no significant changes between these blood transfusion strategies in terms of death, safety or adverse events, duration of hospital and ICU stay, and other measures, such as length of hospital and ICU stay, hematocrit, serum lactate, and serum ferritin levels. Quality assessment indicated that most studies had some concerns (n = 7), and others had high (n = 2) or low (n = 1) risk of bias.
Conclusions
Restrictive transfusion strategy is safe and effective for critically ill children.
{"title":"Clinical outcomes of restrictive versus liberal blood transfusion strategies in critical care children: A systematic review and meta-analysis of randomized controlled trials","authors":"Nabeel Al-Yateem , Fatma Refaat Ahmed , Seyed Aria Nejadghaderi","doi":"10.1016/j.phoj.2024.09.005","DOIUrl":"10.1016/j.phoj.2024.09.005","url":null,"abstract":"<div><h3>Background</h3><div>The published experience with restrictive and liberal blood transfusion approaches in pediatric intensive care units (ICUs) is not extensive. We investigated the outcomes of restrictive compared to liberal transfusion strategies in critically ill children.</div></div><div><h3>Methods</h3><div>A search was conducted on PubMed, Embase, Scopus, and the Web of Science until February 16, 2024. The first 300 results from Google Scholar and records from the <span><span>clinicaltrials.gov</span><svg><path></path></svg></span> registry were manually screened. Backward and forward citation searches were also performed. We included randomized controlled trials examining outcome measures of children aged <18 years admitted to the ICUs who received restrictive methods for blood transfusion compared with the liberal one.</div></div><div><h3>Results</h3><div>Ten studies were included, with a pooled sample size of 2736. Half (50.8 %) were males; age ranged from 2.5 days to 73.7 months. The restrictive transfusion strategy significantly decreased the risk of nosocomial infections (risk ratio: 0.64; 95 % confidence interval: 0.42, 0.96) and also reduced hemoglobin levels (standardized mean difference: −2.92; 95 % CI: −4.48, −1.35), while there were no significant changes between these blood transfusion strategies in terms of death, safety or adverse events, duration of hospital and ICU stay, and other measures, such as length of hospital and ICU stay, hematocrit, serum lactate, and serum ferritin levels. Quality assessment indicated that most studies had some concerns (n = 7), and others had high (n = 2) or low (n = 1) risk of bias.</div></div><div><h3>Conclusions</h3><div>Restrictive transfusion strategy is safe and effective for critically ill children.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 297-306"},"PeriodicalIF":0.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-12DOI: 10.1016/j.phoj.2024.09.001
Sudeep Gaddam, Sivaram Ragavan, Dhaarani Jayaraman, Padmasani Venkat Ramanan, Padma Srikanth, Shuba Sankaranarayanan, Latha M. Sneha, Julius Xavier Scott
{"title":"Human adenovirus infection with secondary hemophagocytic lymphohistiocytosis in immunocompromised children in clusters from South India","authors":"Sudeep Gaddam, Sivaram Ragavan, Dhaarani Jayaraman, Padmasani Venkat Ramanan, Padma Srikanth, Shuba Sankaranarayanan, Latha M. Sneha, Julius Xavier Scott","doi":"10.1016/j.phoj.2024.09.001","DOIUrl":"10.1016/j.phoj.2024.09.001","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 294-296"},"PeriodicalIF":0.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-10DOI: 10.1016/j.phoj.2024.09.002
Kala Gnanasekaran Kiruthiga , Sarita Verma Kokane , Kannan Subramanian , Avinash Pradhan , Ravi Godbole
Background
Non-neoplastic, reactive proliferation of Langerhans cells is observed in leukemias, pseudo-lymphomas, carcinomas, etc. Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative neoplasm with a few overlapping clinical features to Langerhans cell histiocytosis (LCH). JMML involving the lymph nodes may show the proliferation of Langerhans cells.
Case report
A two year old boy presented with fever, hepatosplenomegaly and elevated total leukocyte count with monocytosis. Bone marrow revealed dysplasia in erythroids and myeloids. Axillary lymph node showed sheets of macrophages in sinuses and paracortical areas (S100, CD68 and CD 1a positive) admixed with eosinophils, mimicking LCH. Molecular analysis revealed somatic heterozygous, missense mutation in PTPN11 exon 3, a known pathogenic hot spot mutation in JMML.
Conclusion
The treatment and prognosis of JMML and LCH are different. JMML may have a clinical and morphological overlap with LCH and hence can be misdiagnosed. This paper highlights the similarities and differences between the two diseases with a case illustration.
{"title":"Juvenile myelomonocytic leukemia masquerading as Langerhans cell histiocytosis: An immuno-morphologic dilemma","authors":"Kala Gnanasekaran Kiruthiga , Sarita Verma Kokane , Kannan Subramanian , Avinash Pradhan , Ravi Godbole","doi":"10.1016/j.phoj.2024.09.002","DOIUrl":"10.1016/j.phoj.2024.09.002","url":null,"abstract":"<div><h3>Background</h3><p>Non-neoplastic, reactive proliferation of Langerhans cells is observed in leukemias, pseudo-lymphomas, carcinomas, etc. Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative neoplasm with a few overlapping clinical features to Langerhans cell histiocytosis (LCH). JMML involving the lymph nodes may show the proliferation of Langerhans cells.</p></div><div><h3>Case report</h3><p>A two year old boy presented with fever, hepatosplenomegaly and elevated total leukocyte count with monocytosis. Bone marrow revealed dysplasia in erythroids and myeloids. Axillary lymph node showed sheets of macrophages in sinuses and paracortical areas (S100, CD68 and CD 1a positive) admixed with eosinophils, mimicking LCH. Molecular analysis revealed somatic heterozygous, missense mutation in PTPN11 exon 3, a known pathogenic hot spot mutation in JMML.</p></div><div><h3>Conclusion</h3><p>The treatment and prognosis of JMML and LCH are different. JMML may have a clinical and morphological overlap with LCH and hence can be misdiagnosed. This paper highlights the similarities and differences between the two diseases with a case illustration.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 267-270"},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000767/pdfft?md5=43f40bbf610c4051192f16e37e3244aa&pid=1-s2.0-S2468124524000767-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142243679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-10DOI: 10.1016/j.phoj.2024.09.003
Dhaarani Jayaraman , Harshavardhan Mahalingam , Naga Geetha Rani Mangam , Swati Narasimhan , Padmasani Venkat Ramanan , K. Stephen Sudhakar , Prasanna Kumar S , Banu Keerthana , Manu Vidhya Harikumar , Anupama Jyoti Kindo , T.K. Shruthi , Niranjan Ragavan , Julius Xavier Scott
Mucormycosis is a dreaded condition with high mortality rates noted in immunocompromised hosts. Though iron overload is a known risk factor, children with transfusion-dependent thalassemia have been rarely reported with invasive mucormycosis. We present an 8-year-old girl with transfusion-dependent thalassemia with hypersplenism and iron overload. She had invasive rhino-sino-orbital mucormycosis with a fatal outcome despite aggressive surgical and medical management.
{"title":"Mucor thriving on iron in beta thalassemia major: A case of rhino-orbital mucormycosis","authors":"Dhaarani Jayaraman , Harshavardhan Mahalingam , Naga Geetha Rani Mangam , Swati Narasimhan , Padmasani Venkat Ramanan , K. Stephen Sudhakar , Prasanna Kumar S , Banu Keerthana , Manu Vidhya Harikumar , Anupama Jyoti Kindo , T.K. Shruthi , Niranjan Ragavan , Julius Xavier Scott","doi":"10.1016/j.phoj.2024.09.003","DOIUrl":"10.1016/j.phoj.2024.09.003","url":null,"abstract":"<div><p>Mucormycosis is a dreaded condition with high mortality rates noted in immunocompromised hosts. Though iron overload is a known risk factor, children with transfusion-dependent thalassemia have been rarely reported with invasive mucormycosis. We present an 8-year-old girl with transfusion-dependent thalassemia with hypersplenism and iron overload. She had invasive rhino-sino-orbital mucormycosis with a fatal outcome despite aggressive surgical and medical management.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 271-273"},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000743/pdfft?md5=730979c1a3f034f0f6573ada92f56611&pid=1-s2.0-S2468124524000743-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142243678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Teratomas are germ cell tumors derived from totipotent cells, with presentation outside the gonads being rare, and adrenal location being even rarer. Prenatally detected adrenal teratomas are extremely uncommon.
Case report
We report a rare case of a 5-month-old girl with a prenatally detected left suprarenal mass, which was initially suspected to be a congenital neuroblastoma. Abdominal computed tomography showed a cystic lesion measuring 7.9 x 8.8 × 11.5 cm in the left suprarenal region compatible with adrenal teratoma. The infant underwent laparotomy with excision of the lesion. The histopathological diagnosis was cystic immature teratoma.
Conclusion
Although adrenal teratoma is extremely rare, it should be included in the clinical and radiologic differential diagnosis of prenatally detected suprarenal masses.
背景畸胎瘤是由全能细胞衍生的生殖细胞肿瘤，在性腺以外的部位出现非常罕见，而位于肾上腺的畸胎瘤则更为罕见。病例报告 我们报告了一例罕见病例，一名 5 个月大的女孩在产前发现左肾上腺上肿块，起初怀疑是先天性神经母细胞瘤。腹部计算机断层扫描显示，左肾上区有一个 7.9 x 8.8 × 11.5 厘米的囊性病变，与肾上腺畸胎瘤相符。婴儿接受了开腹手术，切除了病灶。结论虽然肾上腺畸胎瘤极为罕见，但应将其纳入产前发现的肾上腺上肿块的临床和放射学鉴别诊断中。
{"title":"Prenatally detected adrenal immature teratoma: A case report and review of literature","authors":"Nishkala Rao , Amrit Kaur , Arunkumar A.R. , Prakruthi S.K. , Vinay Jadhav , Suma M.N.","doi":"10.1016/j.phoj.2024.08.004","DOIUrl":"10.1016/j.phoj.2024.08.004","url":null,"abstract":"<div><h3>Background</h3><p>Teratomas are germ cell tumors derived from totipotent cells, with presentation outside the gonads being rare, and adrenal location being even rarer. Prenatally detected adrenal teratomas are extremely uncommon.</p></div><div><h3>Case report</h3><p>We report a rare case of a 5-month-old girl with a prenatally detected left suprarenal mass, which was initially suspected to be a congenital neuroblastoma. Abdominal computed tomography showed a cystic lesion measuring 7.9 x 8.8 × 11.5 cm in the left suprarenal region compatible with adrenal teratoma. The infant underwent laparotomy with excision of the lesion. The histopathological diagnosis was cystic immature teratoma.</p></div><div><h3>Conclusion</h3><p>Although adrenal teratoma is extremely rare, it should be included in the clinical and radiologic differential diagnosis of prenatally detected suprarenal masses.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 279-282"},"PeriodicalIF":0.0,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000731/pdfft?md5=53b01dc0d97f8eb4bed00a71446339d3&pid=1-s2.0-S2468124524000731-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142243680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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