International Medical Case Reports Journal最新文献

{"title":"Intracerebral Calcifications Associated with Failure to Thrive and Macular Degeneration in an Adolescent: A Case Report.","authors":"Adonis Muganza Nyenga, Axel Kayembe Mbuyu, Toni Kasole Lubala","doi":"10.2147/IMCRJ.S469737","DOIUrl":"10.2147/IMCRJ.S469737","url":null,"abstract":"<p><strong>Background: </strong>The clinical picture of intracerebral calcification is so varied that it constitutes an essential element of a wide range of clinical syndromes of variable expression that continue to be described. In this article, we discuss the diagnostic possibilities of basal ganglia calcification considering the association of failure to thrive and macular degeneration in our patient.</p><p><strong>Case: </strong>A 17-year-old male patient of Congolese origin consulted us for a pyramidal syndrome consisting of upper limb tremors during mobilization and dysgraphia. The patient also presented with a distance vision disorder for which the ophthalmological examination revealed poor visual acuity in both eyes (2/10) and macular degeneration in the left eye. On physical examination, we noted a short stature with a small head circumference in relation to age. The brain scan revealed the presence of bilateral striato-pallidal calcifications giving the appearance of Fahr's disease. However, the association of delay of stature development with microcrania, macular degeneration with reduced visual acuity and basal ganglia calcifications could suggest a wide range of syndromic hypotheses, the most likely of which is Rajab-type cerebral calcification.</p><p><strong>Conclusion: </strong>The association of failure to thrive, macular degeneration, and cerebral calcification of the basal ganglia is revealed as a particular phenotype compared to cases reported in the literature. An in-depth analysis would be necessary to identify a possible genetic basis.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11215278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476624","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}

{"title":"Undiagnosed Epileptic Case Since Childhood of Sturge-Weber Syndrome: First Case Report from Somalia.","authors":"Said Abdi Mohamed, Nor Osman Sidow, Bakar Ali Adam, Mohamed Sheikh Hassan, Abdiwahid Ahmed Ibrahim, Mohamed Farah Osman, Abdulkadir Ahmed, Abdullahi Ali Roble","doi":"10.2147/IMCRJ.S463858","DOIUrl":"10.2147/IMCRJ.S463858","url":null,"abstract":"<p><p>Sturge-Weber syndrome is a rare, sporadic, progressive neurocutaneous condition that presents with congenital hamartomatous malformations, epilepsy, and a variety of facial symptoms. We discussed a rare case of an eighteen-year-old female child who came to our neurology department with status epilepticus, mental impairment, and a port-wine in the lateral left side of her face. We diagnosed Sturge-Weber syndrome after a thorough neurological and radiological evaluation. The purpose of presenting this case is to illustrate both the characteristic presentation and the complications associated with managing Sturge-Weber syndrome.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11215277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476625","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}

{"title":"An Atypical Seizure Onset and Re-Emergence in a Refugee with an Undiagnosed Sturge-Weber Syndrome: A Case Report from a Limited Setting.","authors":"Awab H Saad, Saeed Mohammed Omar, Abeir Abbas Elgilli, Ibtehal Abdalwahid Abdalmjeed Omer, Morouj Hussein Jalaleldeen","doi":"10.2147/IMCRJ.S472356","DOIUrl":"10.2147/IMCRJ.S472356","url":null,"abstract":"<p><strong>Background: </strong>Sturge-Weber syndrome (SWS) is a complex rare genetic neuro-cutaneous disorder characterized by the presence of a port-wine stain, ophthalmic and intracranial angiomatosis leading to seizures, ocular, and oral abnormalities.</p><p><strong>Case presentation: </strong>We report a 39-year-old, non-diabetic, non-hypertensive female refugee who presented initially with heart failure due to anemia for which she received blood transfusions. Later on admission, she developed multiple focal to bilateral seizures, severe irritability, aphasia, and right-sided hemiplegia, leading to admission to the ICU. A repeat medical history and examination revealed a faint left-sided ophthalmic port-wine stain that was initially unnoticed and a remote history of unprovoked seizures 20 years ago. Imaging revealed parietal calcifications and confirmed the diagnosis of SWS. Thus, a multidisciplinary approach was taken to fully understand the patient's diagnosis and determine a treatment strategy, involving consultations with the neurology, ophthalmology, otolaryngology, and physiotherapy departments. Successful seizure control was achieved by administering IV phenytoin for 3 days and the up-titrating of oral carbamazepine to 1g daily through a nasogastric tube. Unfortunately, due to the unavailability of personnel or resources, other important assessments for patients with SWS, such as advanced neuroimaging, psychiatric, plastic and neuro-surgery evaluations, as well as dentistry reviews, could not be conducted.</p><p><strong>Conclusion: </strong>This case highlights the rare occurrence of adult-onset seizures in an undiagnosed SWS and their re-emergence after almost two decades without anti-seizure medications. It also highlights the importance of a comprehensive history and clinical examination, as this patient's diagnosis of SWS could have been missed if she had not experienced seizures on admission. Our study also demonstrates the challenges associated with managing such a complex condition in settings with limited resources.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141456843","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}

{"title":"Hemiparesis Caused by Cerebral Venous Sinus Thrombosis during the Postpartum Period: A Case Report; Negelle Arsi General Hospital and Medical College, Ethiopia.","authors":"Zerihun Bogale, Gemechu Geleto, Dawit Yosef, Abdella Amano Abdo","doi":"10.2147/IMCRJ.S457170","DOIUrl":"10.2147/IMCRJ.S457170","url":null,"abstract":"<p><strong>Background: </strong>Although rare, cerebral venous sinus thrombosis (CVT) can result in significant neurological complications, particularly after childbirth. Early diagnosis poses a challenge due to symptom overlap with other conditions. Limited publications and underdiagnosis of CVT are prevalent in developing nations, notably in Ethiopia.</p><p><strong>Case: </strong>A 29-year-old mother, having given birth four times, presented to the emergency department in her second month postpartum with complaints of persistent headaches and blurred vision over three weeks. Additionally, she reported sudden weakness on her right side for one day. Despite previous treatments for migraine headaches, she was diagnosed with CVT after magnetic resonance imaging/venography revealed blockage in the right anastomotic vein and the posterior segment of the superior sagittal sinus. Treatment commenced with the anticoagulant enoxaparin. During hospitalization, she experienced one episode of generalized seizures, leading to transfer to the intensive care unit where phenytoin was added. Subsequent diagnosis of papilledema occurred. After a 16-day hospital stay, she was discharged with warfarin, phenytoin, and acetazolamide. Oral anticoagulation and other medications ceased after six months of treatment, considering the postpartum period as a temporary risk factor for CVT. The patient currently maintains good health and has resumed normal activities.</p><p><strong>Conclusion: </strong>Maintaining a high index of suspicion for CVT during the postpartum period and promptly conducting imaging scans are crucial for early diagnosis. This approach can halt neurological decline and facilitate immediate recovery through early therapeutic interventions.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11192203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442602","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}

{"title":"A Rare Case of Gastroduodenal Artery Aneurysm Rupture with Perforated Duodenal Ulcer.","authors":"Nabeel Yahya Almadwahi, Mohamed Ali Alshuja'a, Hamza Zaid Al-Hodiafy, Haitham Mohammed Jowah","doi":"10.2147/IMCRJ.S468278","DOIUrl":"10.2147/IMCRJ.S468278","url":null,"abstract":"<p><strong>Purpose: </strong>In this case we report a rare presentation of a ruptured gastroduodenal artery aneurysm (GDA) accompanied by a duodenal perforation. It contributes to the scientific literature by discussing the management approach and results in a patient with dual complications and emphasizes the importance of early diagnosis and appropriate treatment.</p><p><strong>Case presentation: </strong>A 50-year-old male presented with severe abdominal pain, anemia, and signs of hemodynamic instability. Diagnostic imaging including CTA revealed a large, thrombosed gastroduodenal artery aneurysm with evidence of rupture. The patient underwent open surgical exploration and repair to address both the aneurysm and the duodenal perforation. The patient's recovery was satisfactory and was discharged home in stable condition.</p><p><strong>Conclusion: </strong>Early diagnosis and appropriate management in gastroduodenal artery aneurysms is crucial. There is a need for individualized surgical interventions based on the patient's hemodynamic status and associated complications. Dual complications required open surgical exploration and repair, resulting in favorable outcomes.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11192190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442601","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}

{"title":"Successful Undergoing Esophagogastric Anastomosis with Right Gastroepiploic Vessels Congenital Absence: A Case Report.","authors":"Tinghua Guan, Guobing Qiao, Shengke Cheng, Yifeng Zheng","doi":"10.2147/IMCRJ.S471750","DOIUrl":"10.2147/IMCRJ.S471750","url":null,"abstract":"<p><p>A 60-year-old male farmer was admitted to the hospital with dysphagia for 2 months, and minimally invasive McKeown esophagectomy with lymphadenectomy was initially planned. However, congenital absence of the right gastroepiploic vessels (RGEVs) was blocked surgical procedure. Fortunately, we successfully performed esophagectomy and unconventional gastric remnant reconstruction without RGEVs, and intraoperative cervical venous superdrainage.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11179659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330862","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}

{"title":"Intrahepatic Gas Caused by Acute Gastroenteritis: Hepatic Portal Venous Gas or Biliary Tract Gas?","authors":"Chunhua Wang, Haifeng Jin, Hua Xue, Yanwei Zhang","doi":"10.2147/IMCRJ.S468694","DOIUrl":"10.2147/IMCRJ.S468694","url":null,"abstract":"<p><strong>Purpose: </strong>Hepatic portal venous gas is not a specific disease and is often only an imaging manifestation in patients with acute abdomen. However, its appearance often indicates serious disease and poor prognosis. It is not difficult to distinguish typical portal venous gas from biliary tract gas on computed tomography because of their relatively different distribution within the liver. But the difference is not absolute.</p><p><strong>Case description: </strong>An 82-year-old female was admitted to the emergency department due to epigastric pain, nausea and vomiting for 1 day. Intrahepatic gas was found on computed tomography (CT), which was initially diagnosed as portal venous gas, and contrast-enhanced abdominal CT was performed 3 hours after the first plain CT scan and revealed a significant reduction of intrahepatic gas, then diagnosed as biliary tract gas. Two days later, enhanced abdominal CT showed that biliary tract gas had disappeared. Continuous gastrointestinal decompression, anti-infection, rehydration and other treatments were given. After treatment, abdominal pain, nausea, vomiting and other symptoms of the patient were gradually relieved. The patient refused gastroenteroscopy and was discharged after 13 days of hospitalization.</p><p><strong>Conclusion: </strong>Portal venous gas and biliary tract gas may have similar CT findings and be misdiagnosed, and enhanced CT examination is necessary to confirm the diagnosis.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11166165/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141305931","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}

{"title":"Erratum: Late-Onset Meningitis in a Preterm Infant Caused by <i>Streptococcus gallolyticus</i> Subsp. Pasteurianus in Saudi Arabia: A Case Report and Literature Review [Corrigendum].","authors":"","doi":"10.2147/IMCRJ.S481496","DOIUrl":"https://doi.org/10.2147/IMCRJ.S481496","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.2147/IMCRJ.S438457.].</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11164209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300668","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}

{"title":"EOG and the En-Face Inner Segment/Outer Segment-Ellipsoid Complex Image in Multiple Evanescent White Dot Syndrome","authors":"Fubin Wang, Aijun Wang, Xiaoyan Leng, Lin Yong","doi":"10.2147/imcrj.s468142","DOIUrl":"https://doi.org/10.2147/imcrj.s468142","url":null,"abstract":"","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141402022","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}

{"title":"Rare Biallelic Variants Affecting the Interdomain B Region of Zeta-Chain Associated Protein Kinase 70 (ZAP70) Protein in a Sudanese Patient: Case Report.","authors":"Alamin Mustafa, Rogaia Hasap Alrasoul Ahmed, Hala Hamza Eltayeb, Malaz Elsadeg, Omaima Abdel Majeed Mohamed Salih, Nahla H H Erwa","doi":"10.2147/IMCRJ.S451600","DOIUrl":"10.2147/IMCRJ.S451600","url":null,"abstract":"<p><strong>Introduction: </strong>A class of disorders known as inborn errors of immunity (IEI) is defined by a compromised or missing immune response, which increases the vulnerability to infections, immunological dysregulation, and cancer. Severe combined immunodeficiencies (SCIDs), affecting both T and B-cell function are rare but often severe diseases. In this report, we describe a 10-month-old SCID patient from Sudan with disseminated BCG infection.</p><p><strong>Case presentation: </strong>A 10-month-old boy whose parents were first degree relatives, presented with a six-month history of repeated chest infections and fever. Physical examination revealed a very ill-looking boy with respiratory distress dependent on oxygen, had slight abdominal distention and hepatomegaly. Investigations revealed positive polymerase chain reaction (PCR) for <i>M. tuberculosis</i> complex infection and low CD4+ and CD8+ cells. Genetic testing showed compound heterozygosity in <i>trans</i> for two variants in the Zeta-chain Associated Protein Kinase 70 (ZAP70) gene associated with autosomal recessive SCID. The patient was started on BCG-related infection treatment, intravenous immunoglobulin (IVIG) replacement and trimethoprim/sulfamethoxazole prophylaxis with an excellent response and the patient responded well to the treatment.</p><p><strong>Conclusion: </strong>SCIDs are rare, and early management is crucial. In this case, a diagnosis of ZAP70 deficiency was based on next-generation sequencing and inhouse bioinformatic computational analysis of the <i>ZAP70 gene</i>, highlighting the importance of genetic testing in the workup of immunodeficiencies in low resource settings.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11149648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141248134","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}