2023: Vol 10 No 12

2023: Vol 10 No 12
  • Sofia Dinis Ferreira, Margarida Jardim, Margarida Câmara, Fernando Jacinto, Fernando Aveiro, José Júlio Nóbrega
    Views: 337 HTML: 42 PDF: 267

    Ponatinib is a third-generation tyrosine kinase inhibitor (TKI) that can effectively treat patients with acute lymphoblastic leukaemia (ALL), particularly those with Philadelphia chromosome-positive (Ph+ALL) subtype, who are resistant or have previously received other TKIs.
    We report a case of a 42-year-old female with Ph+ALL who was admitted to the intensive care unit with respiratory failure and severe acute respiratory distress syndrome (ARDS), while on treatment with ponatinib. Despite being treated with multiple antibiotics and antivirals, the patient’s condition continued to worsen, and pulmonary complications secondary to TKI were suspected. After starting a steroid regimen, the patient’s condition improved drastically with resolution of the pulmonary complications.
    While many adverse events (AEs) happen in the beginning stages of TKI treatment, certain toxicities may not arise until months after therapy initiation. Cardiovascular complications are the most common AE of ponatinib, including heart failure and arterial hypertension. Pulmonary complications may occur, and management includes drug cessation and individualised steroid therapy.
    In case of respiratory failure without signs of infection and no improvement with antimicrobial treatment, clinicians should consider the possibility of pulmonary toxicity associated with ponatinib.

  • Riccardo Canta, Lucilla Vestito, Paola Castellini, Carlo Trompetto, Laura Mori, Anna De Giovanni, Luca Puce, Lucio Marinelli
    Views: 348 HTML: 32 PDF: 266

    Introduction: Dysphagia in post COVID-19 patients could be caused by several factors, including reduced pharyngolaryngeal coordination due to SARS-CoV-2 tropism to the central and/or peripheral nervous system. To our knowledge, this is the first reported case of COVID-19-related dysphagia successfully treated with botulinum toxin type A injection.
    Case description: We report the case of a patient with severe oropharyngeal dysphagia due to COVID-19 confirmed by fibre endoscopy. As a result, the patient required an enteral feeding tube. After two months of traditional swallowing therapies, there was only limited improvement. An electrophysiologic evaluation of the cricopharyngeal muscle was performed and showed a normal inhibition of the cricopharyngeal muscle, followed by a hypertonic rebound. Based on this result, we decided to perform a unilateral laryngeal injection of botulinum toxin type A. After the injection, the patient’s swallowing function improved significantly, allowing him to return to oral feeding.
    Discussion: Newly diagnosed oropharyngeal dysphagia was found in 35.3% of hospitalised patients with COVID-19. There are several possible causes of COVID-19-associated dysphagia, including stroke, encephalitis, critical illness neuropathy, Guillain-Barré syndrome and skeletal muscle injury. In our case, since stroke was excluded by brain MRI, cranial nerve injury was a possible explanation for the difficult recovery of swallowing despite daily swallowing therapy.
    Conclusion: We suggest that electrophysiology is a valid tool for the diagnosis and follow-up of patients with oropharyngeal dysphagia.

  • Andronikos Spyrou, Michalis Ploumidis, Sofia Nanousi, Charis Roumbas, Georgios Adamis, Myrto Astriti
    Views: 201 HTML: 36 PDF: 131

    While primarily described in children, adult-onset Langerhans cell histiocytosis (LCH) has been reported, albeit infrequently. In the present scenario, we unveil a unique case of adult-onset LCH in an HIV-infected individual. After the diagnosis was made, the patient was successfully treated and demonstrated total disease remission. This case illustrates the diagnostic challenge that rare clinical entities such as LCH pose, especially in the context of an untreated HIV infection. Furthermore, the complexity of treating adult-onset Langerhans cell histiocytosis in an HIV-positive patient is highlighted, with emphasis given on a multidisciplinary approach.

  • Robin Van Lerberghe, Elien Mahieu, Johan Vanuytsel, Karen Vanhaute, Celine Vanfraechem, Laurens Claeys
    Views: 183 HTML: 30 PDF: 157

    Familial renal glucosuria (FRG) is a rare genetic disease characterised by isolated glucosuria in the absence of proximal tubular dysfunction. It usually occurs due to a mutation in the SLC5A2 gene encoding the sodium-glucose cotransporter-2 (SGLT2), responsible for most of the renal glucose reabsorption. We report on a case of a patient presenting with paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant.

  • Abdulmajeed Faleh Alosail
    Views: 196 HTML: 22 PDF: 135

    This case report presents a rare case of cardiac leiomyomatosis misdiagnosed initially as submassive pulmonary embolism in a 39-year-old woman. The patient presented with syncope and hypotension, leading to an initial diagnosis of submassive pulmonary embolism. However, further investigations revealed a right-sided heart mass on echocardiogram. Surgical intervention was carried out, and the patient’s condition was successfully managed. This case emphasizes the importance of considering rare cardiac tumours in the differential diagnosis of pulmonary embolism.

  • Khoa Nguyen-Dang, Nguyen Tran-Ngoc, Ngoc Duong-Minh, Thong Pham-Quang, Hanh-Duyen Bui-Thi
    Views: 385 HTML: 52 PDF: 197

    Primary pulmonary T-cell lymphoma (PPTL) is a rare disease. Diagnosing PPTL is challenging due to non-specific clinical symptoms and imaging. A 32-year-old female presented with persistent fever, cough, and dyspnoea. The symptoms were initially treated as asthma and community-acquired pneumonia without improvement. Chest computed tomography (CT) revealed bilateral consolidations with a CT angiogram sign, and flexible bronchoscopy showed infiltrative lesions causing bronchial stenosis. Histopathological examination of the tissue biopsy identified T-cell lymphoma through immunohistochemical staining positive for CD3. This case highlights the importance of considering differential diagnoses such as PPTL in patients with atypical presentations of asthma or non-resolving pneumonia. This case also demonstrates the diagnostic utility of flexible bronchoscopy in identifying airway obstruction due to malignant cells, which can mimic asthma.

  • Helbies Bedier, Stéphane Isnard, Chelsea Maedler-Kron, Jean-Pierre Routy
    Views: 391 HTML: 38 PDF: 268

    Background: Castleman disease (CD) is a rare lymphoproliferative disorder with various subtypes, including the HHV-8-negative/idiopathic multicentric CD (iMCD). The diagnosis of iMCD remains challenging due to its non-specific presentation, in the form of generalised lymphadenopathies and inflammation. Two clinical presentations have been recently defined: a severe form iMCD-TAFRO and a milder form of iMCD not otherwise specified (iMCD-NOS). identification of interleukin-6 (IL-6) as a major culprit of inflammatory symptoms led to the development of anti-IL-6 therapies, with siltuximab being the approved first-line treatment.
    Case description: A 16-year-old male presented with recurrent fever, night sweats and several other non-specific symptoms. After extensive evaluations, an excisional lymph node biopsy confirmed the iMCD-NOS diagnosis. The patient received high-dose steroid therapy followed by siltuximab for four years. This treatment was well tolerated with only mild neutropenia not leading to dose adjustment. On siltuximab, the patient developed two mild COVID-19 episodes. His response to siltuximab remained effective throughout four years.
    Discussion: The absence of biomarker or causal agent identification poses a diagnostic challenge requiring lymph node histopathology for a definitive diagnosis of iMCD. Anti-IL 6 (siltuximab) is the recommended frontline therapy, suppressing inflammation and halting disease progression. Intravenous administration every 3 to 6 weeks can impact patient quality of life, prompting further research for alternative treatments. High-dose steroids, rituximab, cyclosporine, tacrolimus, lenalidomide or combined chemotherapy such as rituximab-bortezomib-dexamethasone are among the considered options according to disease severity.
    Conclusion: Overall, long-term siltuximab effectively controlled iMCD symptoms and was well tolerated by this young adult, who endured two mild COVID-19 episodes.

  • Hussain Hussain, Sohair Angly, George Michel, Efrain Garcia, Aya Fadel
    Views: 395 HTML: 51 PDF: 160

    Krokodil, the street name for desomorphine, has emerged as a deadly and alarming drug phenomenon in recent years. This report delves into the intricate relationship between krokodil abuse, its adverse effects on the skin and its profound impact on cardiovascular events. Our patient developed a non-healing cutaneous ulceration associated with an acute onset of cardiac arrhythmia, as well as bilateral upper extremity acute deep-vein thrombosis.

  • Asif Mohamed Farook, Dilshan Priyankara, Chamali Aluwihare, Anthony Mendis
    Views: 261 HTML: 44 PDF: 192

    Introduction: Guillain-Barré syndrome is an acute, inflammatory polyradiculoneuropathy of autoimmune aetiology. It is a rare disease seen in 1 in 100,000 person-years. Up to 20% of those affected develop severe disability; mortality in Guillain-Barré syndrome is 5%. Guillain-Barré, associated with many malignancies as a paraneoplastic phenomenon, has been reported – especially in haematological malignancies such as lymphoma and leukaemia. Solid tumours associated with paraneoplastic Guillain-Barré syndrome are breast and lung cancers. The association between paraneoplastic Guillain-Barré syndrome and gynaecological malignancies are rare, and only a handful of cases have been previously reported in gynaecological cancers.
    Case description: We discuss a 65-year-old Sri Lankan female patient diagnosed with metastatic endometrial carcinoma who presented with paraneoplastic Guillain-Barré syndrome. The patient was treated appropriately and eventually recovered from her condition.
    Conclusion: Paraneoplastic Guillain-Barré syndrome is a rare phenomenon that clinicians can easily miss, and it has rarely been described in gynaecological cancers. Our patient was diagnosed with this rare phenomenon. The timely recognition and prompt treatment of this potentially life-threatening condition with multiple complications is essential in managing patients with malignancies and neuropathy. Further studies on paraneoplastic Guillain-Barré syndrome are needed as cases may be underreported.

  • Leila Bigdelu, Ali Azari, Ali Heidari-Bakavoli, Ossama Maadarani
    Views: 266 HTML: 28 PDF: 122

    Coronary cameral fistula (CCF) is defined as an abnormal connection between the coronary artery and any cardiac chamber. It usually appears due to abnormal embryogenesis and represents less than 1% of the population. Most CCF cases are asymptomatic, however large CCFs may cause symptoms and complications. We present a case of a young female with symptomatic CCF suspected on echocardiography and confirmed by computed tomography coronary angiography. She was successfully treated surgically with total improvement of symptoms.

  • Virginia Lampropoulou, Athanasios Sioulas, Konstantina Papadaki, Spyridon Pagkratis, Dimitrios Papaioannou, George Tzimas, Ilias Scotiniotis
    Views: 353 HTML: 24 PDF: 175

    Introduction: The differential diagnosis of focal biliary strictures comprises both malignant and benign conditions. We report a rare case of follicular cholangitis presenting with segmental stricture of the left hepatic duct.
    Case description: An asymptomatic 59-year-old male with no past medical history presented with dilation of the left intrahepatic bile ducts revealed as an incidental finding on an abdominal ultrasound. Blood examinations showed only a slightly elevated gamma- glutamyl transferase (gammaGT) value, while carbohydrate antigen 19-9 (Ca 19-9) and serum immunoglobulin G4 (IgG4) were within normal range. Abdominal computed tomography and magnetic resonance imaging/magnetic resonance cholangiopancreatography (MRI/MRCP) scans revealed a high grade focal intrahepatic stricture of the left hepatic duct (FIHS type III) with proximal dilatation. Given that a diagnosis of cholangiocarcinoma could not be ruled out, the patient was referred for a left hepatectomy with regional lymph node dissection. Histological analysis showed a lymphoplasmacytic infiltration of the left hepatic duct with fibrosis and follicle formations in the submucosa, findings consistent with follicular cholangitis. The postoperative course was uneventful and there is no evidence of recurrence 8 months after the surgery.
    Discussion: The clinical and imaging presentation of follicular cholangitis is very similar to cholangiocarcinoma, rendering it a challenging diagnosis preoperatively.
    Conclusion: The approach to these cases should be primarily surgical. Even though it is very rare -- our report is the 13th case reported worldwide -- follicular cholangitis should be included in the differential diagnosis of focal biliary strictures.

  • André Silva, Christine Paiva , João Pedro Baptista, Rui Almeida, Rita Alves
    Views: 307 HTML: 44 PDF: 200

    Introduction: Mucormycosis, a rare and life-threatening infection, is caused by microorganisms of the Mucorales order. It affects almost exclusively immunocompromised and diabetic patients, requiring extensive surgical debridement and prolonged antifungal therapy.
    Discussion/Results: We report the case of a 26-year-old immunocompetent woman, presenting with cutaneous mucormycosis after suffering blunt force trauma. This rare occurrence of mucormycosis in an immunocompetent patient reinforces the importance of elevated clinical suspicion and early initiation of adequate surgical and antifungal treatment.
    Conclusion: Mucormycosis is a challenging condition with potentially devastating consequences. Timely diagnosis and appropriate management are vital to mitigate the morbidity and mortality associated with this condition.

  • Mostafa Mohrag, Mohammed Binsalman, Mohammed Abdulrasak
    Views: 299 HTML: 70 PDF: 188

    Background: Hydrophilic polymer gel coatings are used on different intravascular devices to prevent vasospasm and thrombosis. However, it may become dislodged from these devices, leading to ischaemic complications in various organs including the skin, kidneys, brain, heart or lungs. Hydrophilic polymer embolisation (HPE) is a rare complication following endovascular procedures that is currently not fully recognised. The current knowledge of this phenomenon is based on reports consisting of histologic evidence of foreign polymers in the affected organ.
    Case description: A 76-year-old male with a history of hypertension, type 2 diabetes, renal cell carcinoma and chronic kidney disease underwent endovascular stenting of the superficial femoral artery due to critical limb ischaemia of the right foot. The patient had an acute kidney injury following the procedure. Upon examining the legs, there were tender non-blanching macular lesions on the right lower limb. A skin biopsy of the lesion was performed and showed hydrophilic polymer embolisation. Unfortunately, a few weeks later the patient was readmitted due to a worsening of the right foot wound situation, which required below-knee amputation.
    Conclusion: HPE is a rarely reported complication after endovascular interventions, with the potential to embolise to multiple organs. By observing skin manifestations, it is possible to aid the early detection of ischaemic events in other organs and identify their underlying causes. Generally speaking, the course is benign and self-limiting when the skin is involved, but may be more sinister especially when other organs (e.g. brain) are involved.

  • Zaky Mehdi Benamar, Camille Huet, Maxime Rousseau, Léa Docquier, Emmanuel Andres, Pascal Bilbaut, Noel Lorenzo-Villalba
    Views: 223 HTML: 27 PDF: 147

    A 75-year-old woman with a history of chronic hydrocephalus due to stenosis of the aqueduct of Sylvius was examined at the emergency department for altered mental status. There was placement of a ventriculoperitoneal shunt in 1970 complicated by meningitis, leading to removal of the material and ventriculociternostomy as definitive treatment in 2004. About one month previously, she had undergone a laparoscopic cholecystectomy complicated by an intra-abdominal collection. Clinical examination at the emergency department revealed a Glasgow score of 8 (E3 V1 M4). In the emergency department the patient presented a tonic-clonic seizure before a cerebral CT scan was performed showing a massive compressive pneumocephalus, then a second seizure. The patient was finally admitted to the neurosurgery department and underwent surgery.

  • Carina Silva, Susana Merim, Rita Sevivas, João Mota, Alexandra Leitão
    Views: 283 HTML: 33 PDF: 225

    Drug-induced liver injury (DILI) is a liver condition caused by any drug or toxic substance. The spectrum of DILI manifestations can range from asymptomatic elevation of liver enzymes to acute liver failure. Antibiotics are one of the major causes of DILI. The authors report the case of a 37-year-old male with nausea, right hypochondrium pain and fever with history of bismuth subcitrate, metronidazole and tetracycline combination treatment in the previous five days. DILI was suspected and other aetiologies of acute hepatitis were excluded such as viral, autoimmune or even haemochromatosis and Wilson’s disease. Liver biopsy was performed, being compatible with the diagnosis of DILI; DILI is a diagnosis of exclusion. Bismuth subcitrate, metronidazole and tetracycline combination treatment is a rare cause of DILI.

  • Laura Canziani, Francesca Orlando, Michele Villa, Tiziano Cassina
    Views: 262 HTML: 35 PDF: 255

    Introduction: Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) may be a life-saving rescue therapy for patients with severe cardiac disease of any origin and circulatory failure. Data in the literature have demonstrated that the use of advanced mechanical circulation has resulted in improvements in both survival and quality of life; despite this, cardiogenic shock and refractory cardiac arrest remain conditions with high mortality. Opportune identification of patients who can benefit from it may improve outcomes. However, the shortage of guidelines on indications often results in a high mortality rate and poor outcome. Due to ethical issues, randomised controlled studies with VA-ECMO have not been conducted so no recommended evidence-based guidelines exist for VA-ECMO patient-selection criteria. Therefore, the indications depend only on expert opinion after reviewing the literature.
    Case description: We report the case of a young female patient who presented with an out-of-hospital cardiac arrest (OHCA) due to spontaneous coronary dissection. She was treated with extracorporeal cardiopulmonary resuscitation (ECPR) with excellent results in terms of short and long-term survival, and neurological outcome. This was despite the presence of several clinical and laboratory negative prognostic factors on the basis of the current literature, and the lack of general consensus among the relevant medical personnel.
    Conclusion: We were able to explain the favourable outcome only on the basis of clinical data. We can conclude that the availability of advanced resources in the area (timeliness of the rescues, quality of the resuscitation, an advanced haemodynamic management centre nearby) has contributed to determining the complete clinical and neurological recovery of the patient.

  • Jack Demirjian, Rohan Divecha, Emmanuel Garrastegui Mercado , Oscar Garcia
    Views: 220 HTML: 45 PDF: 165

    Persistent left superior vena cava (PLSVC) is a common congenital anomaly of the thoracic venous system. It is usually asymptomatic and is detected when cardiovascular imaging is performed for unrelated reasons. Its presence can complicate catheter placement within the right side of the heart, as well as cardiac procedures. In most cases PLSVC can go unnoticed and only becomes pertinent when patients require cardiac imaging or surgery. Once found, it puts patients at risk for cardiac interventions. Here we present a case that highlights the practical implications of PLSVC where a patient developed flash pulmonary oedema after gastrointestinal procedures – in this case, laparoscopic cholecystectomy – as well as endoscopic retrograde cholangiopancreatography (ERCP). Management is also discussed, leading to the resolution of symptoms. The report will also propose a pathophysiologic mechanism leading to this complication that is not well understood in the medical literature.

  • Fahad Eid, Andrew Takla, Mohamed Magdi Eid, Mostafa Najim, Mostafa Reda Mostafa
    Views: 424 HTML: 57 PDF: 293

    This case report presents the management of a 53-year-old female with a complex psychiatric history who ingested multiple medications, resulting in severe cardiovascular compromise and subsequent respiratory failure. The patient’s ingestion included clonidine, fluoxetine, gabapentin, quetiapine and bupropion. Initial treatment involved supportive measures, including fluid resuscitation, bicarbonate infusion and correction of electrolyte imbalances. Despite these interventions, the patient remained haemodynamically unstable, requiring multiple vasopressors. Lipid emulsion therapy was initiated and led to a remarkable improvement in the patient’s cardiovascular status. However, she developed acute respiratory distress syndrome (ARDS) and required prolonged mechanical ventilation. Steroid therapy was initiated to manage the ARDS, and the patient was successfully extubated on day 6. The case highlights the potential effectiveness of lipid emulsion therapy in managing bupropion toxicity, but emphasises the need for further research to establish clear guidelines on dosing, timing and safety protocols. Adverse effects associated with lipid emulsion therapy must be carefully considered. Individualised decision-making and patient-centred care is crucial in optimising outcomes in cases of bupropion toxicity.

  • Nicolas Sandakly, Georgio El Koubayati, Abir Ayoub, Claude Ghorra, Fady G. Haddad
    Views: 194 HTML: 24 PDF: 159

    Pituitary apoplexy is an uncommon condition typically resulting from a sudden haemorrhage within a pituitary adenoma. This bleed can present clinically with a wide array of signs and symptoms. This report documents the case of a 62-year-old male who presented to the Lebanese Hospital Geitaoui University Medical Center with signs and symptoms of meningeal irritation. He was initially thought to have meningitis, and was started on antibiotics; he was then found to have pituitary adenoma apoplexy that was complicated by syndrome of inappropriate antidiuretic hormone release (SIADH). The patient was successfully treated with antibiotics, and fluid restriction and hypertonic saline after ruling out other more common causes for his hyponatraemia, before undergoing a transsphenoidal resection of the pituitary adenoma. A three-month follow-up evaluation of the patient demonstrated the absence of hormonal imbalances and the absence of residual tumours on imaging.

  • Luciana Silva, Raquel Moura, Luís Rocha, Tiago Costa, Filipe Breda, Joana Cochicho
    Views: 533 HTML: 51 PDF: 273

    Introduction: Porto-sinusoidal vascular syndrome is characterised by specific histological changes that do not include cirrhosis, with or without portal hypertension. Patients are usually asymptomatic until development of portal hypertension complications.
    Case description: A 69-year-old female with history of JAK2 positive essential thrombocythemia (ET) was referred to internal medicine consultation due to elevated liver enzymes. The patient had no previous history of liver disease. Seven months earlier, she had an ischaemic stroke and started treatment with atorvastatin. After discontinuing medication, liver enzymes returned to normal and atorvastatin-related drug-induced liver disease (DILI) was presumed.
    During a follow-up visit, iron deficiency anaemia was detected and an endoscopic study was performed. It revealed a gastric varix actively bleeding, which was successfully treated with cyanoacrylate.
    Two months later, the patient was admitted due to a new episode of variceal bleeding, and a portal hypertension complementary study was made.
    Discussion: Although the pathogenesis of porto-sinusoidal vascular disease (PSVD) remains poorly understood, vascular changes within the liver have been associated with several predisposing conditions, such as hypercoagulable states. Patients with ET, especially those with JAK2 mutation, are known to be at increased risk of non-cirrhotic vein thrombosis. Concerning PSVD, the association is not clear but it is believed that both PSVD and myeloproliferative neoplasms share a common denominator: a state characterised by hypercoagulability, inflammation, endothelial dysfunction and, in some cases, portal hypertension.
    Conclusion: Portal hypertension without cirrhosis is a rare condition, presenting diagnostic challenges and significant impact on the patient’s prognosis.

  • Daniyal Raza, Maryam Mubashir, Karan Sachdeva, Lena Kawji, Ashley Deville, Syed Musa Raza, James Morris, Sudha Pandit
    Views: 293 HTML: 36 PDF: 287

    Acute cholangitis is a critical medical condition requiring prompt intervention. This case report explores the complexities and uncertainties encountered in clinical decision-making when faced with a patient presenting with symptoms suggestive of acute cholangitis. We emphasise the importance of considering individual circumstances and factors in the diagnostic process. A 38-year-old woman with a history of Crohn’s colitis presented with abdominal pain, jaundice and leukocytosis. Initial evaluation raised suspicions of acute cholangitis, but unexpected findings of blast cells in the peripheral smear led to a diagnosis of B-lymphoblastic leukaemia with BCR-ABL1 fusion. Treatment with steroids and chemotherapy resulted in the resolution of liver abnormalities. This case underscores the necessity of comprehensive assessments for obstructive jaundice and highlights the potential diagnostic challenges posed by underlying haematologic malignancies. It also raises awareness about drug-induced liver injury, and emphasises the importance of complete blood counts and differentials in the initial workup. Healthcare providers should be vigilant in considering alternative diagnoses when faced with obstructive jaundice, as misdiagnosis can lead to invasive procedures with potential adverse events.