2022: Vol 9 No 6

2022: Vol 9 No 6
  • ELMustafa Abdalla, Muzamil Musa, Mutwakil Musa, Ahmed Hatem, Abdalla Fadul, Ashraf OE Ahmed
    Views: 558 HTML: 133 PDF: 330

    Splenic infarction can occur as an infrequent thrombotic manifestation in polycythaemia vera (PV) and is usually catastrophic. We describe the case of a middle-aged woman who was diagnosed with PV 3 months before she presented to the emergency department with acute limb ischaemia. A splenic infarction detected on diagnostic imaging during her hospital stay was treated conservatively with modification of her hydroxyurea dose along with pain management, without the need for surgery.

  • Alvaro Tamayo-Velasco, María José Cebeira, Carolina Bombín-Canal, Rosa María Acevedo-García, María Jesús Peñarrubia-Ponce
    Views: 537 HTML: 86 PDF: 314

    Fibrinogen deficiencies are very rare. Qualitative fibrinogen deficiencies (dysfibrinogenaemia and hypodysfibrinogenemia) are functional disorders that can present with both haemorrhagic symptoms and with thrombotic phenomena as unique and paradoxical manifestation. We present the case of a 77-year-old man being investigated for a partially thrombosed abdominal aortic aneurysm as well as an ischaemic stroke 20 years previously. Basic coagulation tests were normal but extended tests revealed a lengthened thrombin time (TT) combined with a significant drop in fibrinogen concentration measured with the Clauss assay and by nephelometry. After secondary fibrinogen deficiencies were ruled out, a heterozygous variant in the FGG gene was detected by next-generation sequencing, and congenital hypodysfibrinogenemia was diagnosed. Acenocumarol was initiated and no new thrombotic or haemorrhagic events had occurred after a year of follow-up.
    In almost 25% of cases, thrombotic events may be the only clinical manifestation of functional fibrinogen deficiencies. They are a rare cause of thrombophilia, and are probably underdiagnosed due to normal standard coagulation test results as well as a possible absence of haemorrhagic events. Consequently, a TT test (an initial ‘rule out’ test) should be requested in order to promptly identify these patients. Moreover, discrepancies in derived and Clauss fibrinogen test results should suggest a functional disorder. Finally, new coagulation techniques based on the functional characterization of clot formation, such as ROTEM or thrombin generation assay, could help characterize these entities and suggest new therapeutic approaches.

  • Daniella Vronsky, Shimrit Hershkowitz, Alon Hershko, Noa Eliakim-Raz
    Views: 631 HTML: 388 PDF: 261

    COVID-19 vaccines were introduced soon after the COVID-19 pandemic emerged in 2020. Various side effects were reported worldwide, including several types of common systemic side effects such as fever and general fatigue. Reports of other rare manifestations also emerged. We report the case of an adult male with a rare systemic syndrome mimicking lymphoma after he had received the first dose of an mRNA-based COVID-19 vaccine. After nearly 6 months of investigation with suspicion for an infection or malignancy, all symptoms resolved, laboratory tests normalized, and imaging showed no sign of active disease.

  • David Walz, Sandhya Cautha, Sorab Gupta, Michael Lombino, Muhammad Suhl, Jeismar Bello, Harriett Smith
    Views: 750 HTML: 285 PDF: 319

    Introduction: Primary vaginal malignant melanomas are rare tumours with a limited number of cases published in the literature. They primarily affect post-menopausal women with a median age of 57–68 years and have a dismal prognosis. The 5-year survival rate, regardless of treatment, is approximately 5–25%.

    Case description: We present the case of an 87-year-old female who presented with haematuria and urinary incontinence. She was diagnosed with AJCC stage IIIC vaginal melanoma. Considering her age and the extent of malignancy, surgery was not a viable option and immunotherapy with nivolumab and ipilimumab was initiated as treatment.

    Discussion: The diagnosis of vaginal melanomas includes pathological analysis and immunohistochemistry (IHC) of the mass, imaging to determine extent, and genetic testing. Surgery is the preferred treatment in suitable cases. For metastatic or unresectable cases, immunotherapy or targeted therapy is the preferred first-line treatment. Due to the lack of an adequate number of cases to conduct randomized clinical trials, prognostic factors and treatment protocols for vaginal melanomas are not clearly defined. At present, the management of these tumours is largely based on retrospective studies and anecdotal evidence accompanied by significant knowledge gaps. Our case will be a valuable addition to the existing literature on vaginal melanomas that are managed non-surgically.

  • Ramez Alyacoub, Sherif ElKattawy , Shruti Jesani, Carlos Perez Hernandez, Hardik Fichadiya, Muhammad Atif Masood Noori, Omar Elkattawy, Edward Williams
    Views: 676 HTML: 102 PDF: 298

    Left ventricular thrombus (LVT) formation is a serious clinical complication of low-flow states that may be seen in an ischaemic, arrhythmic heart. While LVT formation has a poor prognosis, in the setting of myocardial infarction it is usually a result of post-infarct sequelae such as left ventricle aneurysms, and inflammatory changes from damaged tissue, with the LVT taking several days to form. Arrythmias such as ventricular tachycardia (VT) or ventricular fibrillation (VF) may also lead to thrombus formation, as they contribute to stasis due to decreased cardiac output. Large anterolateral myocardial infarctions can cause electrical or arrhythmic storm, characterized by more than three episodes of VT or VF in a 24-hour period. This prolonged state of dyskinesis further increases the risk of thrombosis, creating a compounding effect. Here, we report the case of a patient who had a VF cardiac arrest with electrical storm secondary to anterolateral myocardial infarction complicated with LVT formation found on echocardiogram after the cardiac arrest, which was absent on presentation. This thrombus formation occurred particularly early during the course of the patient’s arrest, possibly due to the compounding factors increasing the risk of thrombosis. Herein, we discuss in detail the risk factors for LVT formation, its mechanism and management options. A review of the literature also shows that LVT formation in the acute phase of arrest, as seen in our patient, is rare.

  • Valon Saliu, Cemal Ulusoy, Andrej Nikolovski
    Views: 538 HTML: 90 PDF: 242

    Enteric intussusception in adults is usually associated with the presence of a lead point seen on abdominal computerized tomography. However, as intussusception in coeliac disease may not have a lead point, a surgical procedure is often indicated in order to exclude small bowel tumour. We present the case of a male patient who presented with asymptomatic small bowel intussusception. During exploratory laparoscopy, five enteric intussusceptions were detected and a suspicion for coeliac disease was raised. Postoperative duodenal biopsy and CD3 immunohistochemical staining confirmed the diagnosis of coeliac disease, Marsh type 1.

  • Nevenka Ridova, Sanja Trajkova, Marija Popova-Labachevska, Simona Stojanovska – Jakimovska , Filip Nikolov, Irina Panovska-Stavridis
    Views: 478 HTML: 51 PDF: 318

    Introduction: Gaucher disease (GD) is a rare inherited lysosomal storage disease characterized by multi-system impairment. One of its main features is the over-expressed chronic stimulation and activation of the immune system, which may play a crucial role in the development of some malignancies associated with GD. 

    Case description: We describe a young woman diagnosed with GD type 1 in early adulthood who developed early-onset colorectal cancer shortly after GD diagnosis and the initiation of enzyme replacement therapy. She underwent radical surgical resection of the colon and adjuvant chemotherapy due to metastatic disease in the liver. She failed first-line therapy with capecitabine and is currently being treated with irinotecan plus the monoclonal antibody cetuximab. 

    Discussion: Although there is no evidence of an association between GD and colorectal cancer, this presentation in a young woman without a family history or risk factors may indicate a link. During anticancer treatment, only grade 3 anaemia was documented and no other haematological toxicities were observed. Enzyme replacement therapy at the recommended dose is regularly administered at scheduled intervals. The dosage may be increased in future if necessary to alleviate profound cytopenia.

    Conclusion: Anticancer treatment in patients with GD can be challenging due to the accompanying cytopenia. Optimal treatment of these patients with cancer requires greater understanding of the pathophysiology of GD and its impact on haematopoiesis. 

  • Ruhma Ali, Modupeoluwa Owolabi , Aditya Patel, Muhammad Hussain , Jihad Slim
    Views: 498 HTML: 80 PDF: 275

    Introduction: Deep neck abscess in adults may occur as a result of local trauma, foreign body inoculation or immunosuppression. 

    Method: We describe a case of deep neck abscess that developed after recent hospitalization and intubation for chronic obstructive pulmonary disease (COPD) exacerbation. 

    Discussion: The incidence of deep neck abscesses has dramatically reduced due to the use of antibiotics. However, if present, they need prompt surgical drainage due to their proximity to the nearby vasculature of the neck. 

    Conclusion: This case highlights the need for physician awareness of the clinical presentation of the unique complications of deep neck abscess developing after hospitalization.

  • Jesus Romero, Sherif Elkattaway, Ana Romero, Asnia Latif, Eman Al-Fiky, Abraham Al-Nasseri, Muhammad Atif Noori, Khaled Al-Alwani
    Views: 839 HTML: 151 PDF: 578

    Ludwig’s angina is a bacterial infection of the tongue and floor of the mouth. It can be life-threatening if not treated promptly. Treatment includes IV antibiotics and, in some cases, surgical intervention. In this report, we describe a case with an unusual presentation. Early recognition of the condition in such cases is vital to prevent potential complications.