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Spondylocostal dysplasia – Jarcho–Levin syndrome: A case report 脊柱骨发育不良--贾乔-莱文综合征：病例报告
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4577
Aruna Chandra Babu, Rani Ameena Bashir, Sakeer Vayal Thrikkovil, Neena Vinod
{"title":"Spondylocostal dysplasia – Jarcho–Levin syndrome: A case report","authors":"Aruna Chandra Babu, Rani Ameena Bashir, Sakeer Vayal Thrikkovil, Neena Vinod","doi":"10.32677/ijcr.v10i7.4577","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4577","url":null,"abstract":"Jarcho–Levin syndrome (JLS) refers to a rare congenital disorder, inherited in an autosomal recessive pattern, which presents as a spectrum of clinical and radiographic abnormalities of the spine and chest. The precise genetic basis of JLS is not clear, hence diagnosis is usually made by typical clinical features such as malformed ribs which are malaligned, crowded, fused, and bifid with a posterior symmetric fusion of all the ribs at the costovertebral joints and flared anteriorly giving “crab-like” or “fan-like” appearance to the chest. Here, we report the case of a baby boy who presented with respiratory distress and was noted to have the characteristic skeletal abnormalities, which include congenital scoliosis with vertebral anomalies, multiple fused ribs with congenital heart disease large 7-mm apical ventricular septal defect (VSD), multiple mid-muscular VSD with increased pulmonary blood flow, 5 mm ostium secundum atrium septal defect, and left ventricular (LV) dilatation with LV failure. The diagnosis of JLS is made if there is a characteristic physical appearance with radiological findings in the clinical setting of thoracic insufficiency. In this case report, we intend to bring forth the learning point that, when a baby is presented with respiratory distress and vertebral, as well as, thoracic cage malformations, the diagnosis of JLS should be kept in mind, if left untreated there is a chance of respiratory failure and thereby making it potentially fatal.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141660397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Yolk sac tumor in sigmoid colon with liver metastasis: A rare case report 乙状结肠卵黄囊肿瘤伴肝脏转移：罕见病例报告
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4576
R. Muddasetty, Basant Mahadevappa, Vishwajeeth Pai, H. R. Jeevan, Junior Consultant, th Main
{"title":"Yolk sac tumor in sigmoid colon with liver metastasis: A rare case report","authors":"R. Muddasetty, Basant Mahadevappa, Vishwajeeth Pai, H. R. Jeevan, Junior Consultant, th Main","doi":"10.32677/ijcr.v10i7.4576","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4576","url":null,"abstract":"Extragonadal germ cell tumor (EGGCT) is a rare tumor of primordial germ cells. They commonly involve the central nervous system and anterior mediastinum. The gastrointestinal system is a rare site for EGGCTs. Here, we present the case of a 34-year-old lady who presented with bleeding per rectum. She was evaluated with colonoscopy which showed a growth in the sigmoid colon and biopsy suggestive of poorly differentiated adenocarcinoma. Further evaluation showed multiple liver metastases. Considering colorectal liver metastasis, she was treated with liver-directed neoadjuvant chemotherapy. Following four cycles of chemotherapy, she underwent anterior resection of the sigmoid colon and microwave ablation of the liver metastasis. The final histopathological examination changed the diagnosis as yolk sac tumor. She is currently receiving chemotherapy. Proper small biopsy evaluation with immunohistochemical staining especially when it was a poorly differentiated adenocarcinoma would have prompted us for an appropriate neoadjuvant therapy to improve patient outcome.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141662384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cystic myoepithelioma of parapharyngeal space: A rare case report 咽旁间隙囊性肌上皮瘤：罕见病例报告
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4553
Jagannath D Sharma, Upasana Kalita, Muktanjalee Deka, Barasha S Bharadwaj, Adahra Patricia Beso, Nandakanta Mahanta, Ekaparna Hazarika, Madhusmita Choudhury, Neeharika Phukan
{"title":"Cystic myoepithelioma of parapharyngeal space: A rare case report","authors":"Jagannath D Sharma, Upasana Kalita, Muktanjalee Deka, Barasha S Bharadwaj, Adahra Patricia Beso, Nandakanta Mahanta, Ekaparna Hazarika, Madhusmita Choudhury, Neeharika Phukan","doi":"10.32677/ijcr.v10i7.4553","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4553","url":null,"abstract":"Myoepitheliomas are generally encapsulated, slowly-growing, asymptotic, solid masses in which more than 50% are seen in the parotid gland. Cystic myoepitheliomas are very rare. We present the case of a 30-year-old man with a cystic mass in the right parapharyngeal space who had undergone wide local excision. In gross examination, a cystic mass was observed. Microscopically, tumors consisted of cells with varied morphology, like round to epithelioid, spindly, plasmacytoid, and clear cells arranged in solid, reticular, and small groups in a hyalinized stroma. Cells show mild to moderate nucleomegaly and atypia. Immunohistochemically, cells were immunoreactive to cytokeratin, S100, smooth muscle actin (focally), P40, and the low ki67 index (1%). We are presenting this case as it is a rare entity, and a very small number of cases have been reported in the literature. It is a rare parapharyngeal tumor presented with a very good and unremarkable post-operative course.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141662506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A rare occurrence: A case report on alobar holoprosencephaly with cyclopia 罕见病例单眼全脑畸形伴单眼视力障碍的病例报告
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4582
Dr. Bandana Sharma, Himani Malviya, Dr. Anchal Malik, Rahul Ray
{"title":"A rare occurrence: A case report on alobar holoprosencephaly with cyclopia","authors":"Dr. Bandana Sharma, Himani Malviya, Dr. Anchal Malik, Rahul Ray","doi":"10.32677/ijcr.v10i7.4582","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4582","url":null,"abstract":"Alobar holoprosencephaly with cyclopia is a rare lethal congenital anomaly frequently accompanied by other malformations and characterized by large variations in incidence. Alobar holoprosencephaly presents as a congenital brain malformation characterized by the incomplete separation of the brain hemispheres during fetal development, typically occurring between the 4th and 6th gestational weeks, affecting about 1 in 250 conceptuses and 1 in 16,000 live births. This anomaly involves the failure of transverse cleavage into the diencephalon and telencephalon and is often accompanied by various midline facial abnormalities. In this report, we detail a case of a patient diagnosed prenatally with alobar holoprosencephaly with cyclopia, which is a rare, severe craniofacial abnormality encountered in approximately 1 in 100,000 births. Due to the severity of the condition, the decision was made to induce labor, resulting in the delivery of a stillborn baby. Despite the grim prognosis associated with this condition, we emphasize the importance of comprehensive prenatal counseling and support for families navigating such complex medical circumstances. Through this report, we aim to contribute to the understanding and compassionate care of individuals affected by alobar holoprosencephaly with cyclopia.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141661926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Euglycemic diabetic ketoacidosis induced by dapagliflozin in the perioperative period – A case report 达帕格列净在围手术期诱发的优格糖尿病酮症酸中毒--病例报告
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4536
M. Shamshuzoha, Priyanka Chavan, Jeshwin Thamburaj
{"title":"Euglycemic diabetic ketoacidosis induced by dapagliflozin in the perioperative period – A case report","authors":"M. Shamshuzoha, Priyanka Chavan, Jeshwin Thamburaj","doi":"10.32677/ijcr.v10i7.4536","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4536","url":null,"abstract":"Dapagliflozin is a sodium-glucose co-transporter 2 (SGLT2) inhibitor used in the treatment of type 2 diabetes mellitus. SGLT2 inhibitors are known to cause diabetic ketoacidosis (DKA) with normal to mild increases in blood glucose levels. Euglycemic DKA develops in patients with pre-existing risk factors such as major surgery, missed insulin dosage, dehydration, and other acute medical illnesses. We describe a 54-year-old female diabetic patient who developed severe DKA in the post-operative period with normal blood glucose levels presenting as acute abdomen. She was successfully managed with DKA protocol and was discharged from the hospital.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141659100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hurler syndrome: Etiology, manifestations, and life complications: A case report 赫勒综合征：病因、表现和生活并发症：病例报告
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4583
Nadeen Haj Ahmad, Marawan El Naboulsy, Hadi Khazaal, Ramtin Dastgir, Faisal Quereshy, Dale Baur
{"title":"Hurler syndrome: Etiology, manifestations, and life complications: A case report","authors":"Nadeen Haj Ahmad, Marawan El Naboulsy, Hadi Khazaal, Ramtin Dastgir, Faisal Quereshy, Dale Baur","doi":"10.32677/ijcr.v10i7.4583","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4583","url":null,"abstract":"Hurler syndrome is a rare genetic lysosomal storage disorder with a wide range of manifestations and complications ranging from musculoskeletal deformities to cardiac and corneal problems. The life expectancy of diagnosed patients does not usually exceed 10 years of age due to the associated cardiac problems. However, depending on the complication presented, some treatment modalities are offered to enhance the quality of life for these patients. Our case report reviews a case of a set of twins diagnosed with the syndrome, who have undergone bilateral coronoidectomy via a coronal approach. This approach was taken due to the superior extension of the coronoid processes into the infratemporal fossae bilaterally, their low zygomatic arches, and the severely limited mouth opening associated with coronoid hyperplasia. A coronal approach that included a bilateral coronoidectomy with the removal of internal exophytic bone on the zygomatic arch, along with manipulation under sedation and further physiotherapy/OraStretch device was used to reach the final maximum mouth opening of 35 mm for both patients.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141662052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
GAPO syndrome – Report of a rare case and review GAPO 综合征--一例罕见病例的报告和综述
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4590
Malarmathi Eswaramoorthy, Murali Gopika Manoharan
{"title":"GAPO syndrome – Report of a rare case and review","authors":"Malarmathi Eswaramoorthy, Murali Gopika Manoharan","doi":"10.32677/ijcr.v10i7.4590","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4590","url":null,"abstract":"A typical case of GAPO syndrome is an autosomal recessive disorder caused by biallelic mutations in the anthrax toxin receptor 1 gene. GAPO is the acronym for the syndrome characterized by a pattern of growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy. Until now, approximately 60 cases have been reported. Herewith, we report the case of a 16-year-old male patient with GAPO syndrome who reported with the chief complaint of missing teeth in the front and back region in both the upper and lower jaw and wanted replacement of teeth. On examination, he had alopecia, short stature along with blindness. The dental findings were unerupted primary and permanent dentitions, which seemed clinically to be a total anodontia and the dental X-rays showed multiple impacted teeth. Based on the clinical and radiographic features, the case was diagnosed as GAPO syndrome.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141660919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Jehovah playing his part: A tale of giant hemangioma – Can we do major liver resections without blood or blood products? 耶和华在发挥作用巨型血管瘤的故事 - 我们能在没有血液或血液制品的情况下进行肝脏大部切除术吗？
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4573
A. Naragund, Sharath S Kumar, R. Muddasetty
{"title":"Jehovah playing his part: A tale of giant hemangioma – Can we do major liver resections without blood or blood products?","authors":"A. Naragund, Sharath S Kumar, R. Muddasetty","doi":"10.32677/ijcr.v10i7.4573","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4573","url":null,"abstract":"Hemangiomas are common benign lesions of the liver. They are generally asymptomatic. Kasabach–Merritt syndrome is an uncommon presentation of hepatic hemangioma requiring treatment. Here, we present a case of a 26-year-old female of Jehovah’s Witness with large hepatic hemangioma and Kasabach–Merritt syndrome. She was refused surgery elsewhere due to the risk of intraoperative hemorrhage. With proper preoperative planning and a team approach, we have performed the successful resection of hemangioma without the need for blood transfusion. We present this case to convey that the use of low central venous pressure, hemodilution, meticulous surgical technique, and intraoperative blood cell salvage and autotransfusion can avoid allogeneic blood transfusion not only in Jehovah’s Witness but also in the general population.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141662470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unusual fungal infection of conidiobolomycosis presenting as nasal tumor – A 以鼻腔肿瘤为表现的异常真菌感染--A
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4523
S. Agale, Vanita Rathi, Monica Tandale
{"title":"Unusual fungal infection of conidiobolomycosis presenting as nasal tumor – A","authors":"S. Agale, Vanita Rathi, Monica Tandale","doi":"10.32677/ijcr.v10i7.4523","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4523","url":null,"abstract":"Conidiobolomycosis is an unusual chronic subcutaneous fungal infection belonging to the order Entomophthorales of zygomycetes. It commonly affects the upper respiratory tract, mucous membranes of the upper lip, and subcutaneous tissues. Clinically, it presents as painless woody swelling commonly affecting the rhinofacial region causing extensive facial deformity. Due to its rarity and the lack of awareness, the diagnosis can be challenging. The definitive diagnosis of rhinofacial conidiobolomycosis is based on histopathological examination of skin lesions. The awareness of this entity is important for early diagnosis and patient management which helps in reducing morbidity associated with disease. We report a rare histopathologically diagnosed case of conidiobolomycosis in a 17-year-old male which was clinically considered a vascular tumor and radiologically diagnosed as hemangioma.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141660268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Navigating the uncommon: Goblet cell adenocarcinoma of appendix with brief review of literature 不常见疾病导航：阑尾鹅口疮细胞腺癌及文献简评
Indian Journal of Case Reports Pub Date : 2024-07-10 DOI: 10.32677/ijcr.v10i7.4556
Uttapalla Laxmi Trivedi, Mayurakshi Das, A. Sekaran, Siddhant Mathur, G. V. Rao
{"title":"Navigating the uncommon: Goblet cell adenocarcinoma of appendix with brief review of literature","authors":"Uttapalla Laxmi Trivedi, Mayurakshi Das, A. Sekaran, Siddhant Mathur, G. V. Rao","doi":"10.32677/ijcr.v10i7.4556","DOIUrl":"https://doi.org/10.32677/ijcr.v10i7.4556","url":null,"abstract":"Goblet cell adenocarcinoma (GCA) is a rare gastrointestinal malignancy with biological behavior intermediate between well-differentiated neuroendocrine tumor and adenocarcinoma. A succinct description of GCA has been made in the 5th edition of the World Health Organization classification of Digestive system tumors, after being decamped from the carcinoid group. Here, we present the case of a 44-year-old male, who presented with pain and abdominal distension and was found to have ileal stricture and subsequently underwent ileocecal resection. Histopathological examination revealed wall of the appendix infiltrated by a tumor, arranged predominantly in tubules (70%) and composed of goblet-like mucinous cells. Focal high-grade component (30%) of signet ring cells noted. Immunohistochemistry highlighted an amphicrine immunoprofile of diffuse CK20 and CDX2 immunopositivity and focal positivity for synaptophysin and chromogranin in the same tumor population. We also discuss the review of recent literature on cases of GCA and discuss its salient histological features, immunoprofile, and differential disgnoses.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141662299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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