2024: LATEST ONLINE

2024: LATEST ONLINE
  • Marta Castelli, Mauro Betelli, Anna Valenti, Barbara Merelli, Alessandro Loglio, Mauro Viganò, Alberto Benetti
    Views: 92 HTML: 16 PDF: 54

    We describe a rare case of polyserositis with chylous ascites following nivolumab therapy, highlighting the challenges in recognizing and managing immune-related adverse events (irAEs) associated with immune checkpoint inhibitors (ICPIs).

  • Natalija Jevdokimova, Denis Jevdokimov, Jelena Ivanova , Sergejs Isajevs, Aiga Staka, Aldis Pukitis
    Views: 108 HTML: 17 PDF: 57

    Background: Primary hepatic epithelioid hemangioendothelioma (HEHE) is an extremely rare tumour of vascular origin with an incidence of <0.1 cases per 100,000 people worldwide.
    Case description: A 29-year-old female with the history of epigastric pain and unintentional weight loss (3 kg over six months) was referred for upper endoscopy. The examination was without visual pathological findings, but a rapid urease test was positive. First-line treatment with clarithromycin-containing triple therapy for Helicobacter pylori infection was given. After completion of eradication therapy, diffuse abdominal pain developed. An abdominal computed tomography (CT) showed multiple liver nodules. Three consecutive core liver biopsies were performed and were inconclusive. A subsequent surgical liver nodule resection was performed. Histopathology of the specimen revealed grade 2 hepatocellular carcinoma; bone scintigraphy was negative for metastasis. A multidisciplinary team (MDT) recommended giving the patient sorafenib, which was poorly tolerated. The histology was reviewed using immunohistochemistry staining at the request of the oncologist, which showed expression of CD31 and CD34. Based on clinical, morphological and immunohistochemistry findings, a diagnosis of hepatic epithelioid hemangioendothelioma was made. Based on the multidisciplinary team's findings, liver transplantation was indicated as the only curative treatment.
    Conclusion: Because of the rarity of this disease, combining clinical, radiological and histopathological methods as well as an MDT approach can help to reach the correct final diagnosis. As demonstrated in this clinical case, it is crucial to perform immunohistochemistry of a liver biopsy to confirm a HEHE diagnosis.

  • Mostafa Elbanna, Fahad Eid, Mostafa Zaalouk, Ahmad Nawid Latifi, Gaurav Sharma
    Views: 62 HTML: 11 PDF: 43

    This report presents a 57-year-old female with a history of dyslipidaemia, intolerant to statins and currently managed on evolocumab. Despite a healthy lifestyle, lipid panel abnormalities persisted, leading to an investigation that revealed heterozygous mutations in the ABCG8 gene, confirming a diagnosis of sitosterolaemia. The patient’s unique response to lipid-lowering medications typified this rare disorder, necessitating specialised genetic testing for diagnosis. Management involved dietary modifications and the introduction of ezetimibe, evolocumab and atorvastatin, demonstrating the personalised nature of treatment. The case underscores the importance of considering sitosterolaemia in unexplained lipid abnormalities and highlights the challenges in diagnosis and management. Ongoing research is crucial for refining diagnostic and therapeutic strategies for this clinically significant disorder, emphasising the need for a multidisciplinary approach to patient care.

  • Nikhil Sood, Margarita Kushnir, Bindu Jayavelu
    Views: 64 HTML: 27 PDF: 54

    Romiplostim and eltrombopag are synthetic agonists of the thrombopoietin receptor (TPO-R), commonly used for immune thrombocytopenic purpura (ITP) and sometimes in myelodysplastic syndrome (MDS). They are rarely associated with kidney injury. We report a case of acute kidney injury caused by romiplostim and eltrombopag in an 80-year-old male patient with MDS and ITP. He did not have systemic haemolysis syndrome but isolated acute renal thrombotic microangiopathy confirmed by kidney biopsy. He was treated with steroids, plasmapheresis and anticoagulation, with improvement in renal function. Interestingly, the patient had high antiphospholipid (aPL) antibodies noted upon screening, indicating a possible new antiphospholipid syndrome (APS) diagnosis. In the presence of circulating aPL antibodies, eltrombopag may have served as a trigger, causing endothelial injury and subsequent renal microangiopathy; aPL antibodies were still significantly positive at four weeks of outpatient testing. This case and a few others reported in the literature highlight the importance of screening for aPL antibodies before initiating TPO-R agonists in patients with ITP. We suspect that using TPO-R agonists, rather than underlying aPL, caused renal failure.

  • Lamprini Bounou, Aimilios Kaklamanos, Theodoros Androutsakos, Elissavet Kemanetzoglou, Ioanna Moustaka , Athanasios Protogerou, Athina Euthimiou
    Views: 13 PDF: 7 HTML: 6

    Background: Anti-leucine-rich glioma inactivated 1 limbic encephalitis (anti-LGI1 LE) is one of the most frequent autoimmune encephalitis, commonly coexisting with other autoimmune diseases. Rheumatoid arthritis (RA) and monoclonal gammopathy of unknown significance (MGUS) are commonly associated with autoimmune phenomena. However, neither RA nor MGUS have been described in the literature to date as coexisting with anti-LGI1 LE.
    Case description: We present the case of anti-LGI1 LE in a male patient with rheumatoid arthritis, who was also found to have an MGUS. The patient was initially treated with corticosteroids and IV immunoglobulin. After a mild relapse, his treatment was complemented with rituximab, resulting in complete regression of the disease symptoms.
    Conclusions: Our report provides evidence for the coexistence of anti-LGI1 LE with RA and/or MGUS, thus extending the differential diagnosis of patients suffering with these disease entities that present with neuropsychiatric symptoms suggestive of encephalitis. Moreover, this case raises challenges on the management of the coexistence of these diseases, given the lack of therapeutic guidelines and their potential interaction on a pathophysiological and a clinical level.

  • Zay Yar Aung, Khaled Elmagraby, Alexandra Nica
    Views: 109 HTML: 21 PDF: 93

    Neutropenia by non-chemotherapy drugs is an extremely rare idiosyncratic life-threatening drug reaction. Ceftriaxone and meropenem are widely used broad-spectrum antibiotics and are generally safe and well tolerated. The authors present a case of neutropenia induced by ceftriaxone and meropenem in an adult patient. The resolution of neutropenia occurred within 48 hours of ceftriaxone and meropenem being discontinued. Although antibiotic-induced neutropenia is uncommon, clinicians should be mindful of this adverse drug effect because of its potential development of severe neutropenia, septicaemia, septic shock, deep-seated infections and even death. Therefore, neutropenic sepsis treatment should be initiated without delay, particularly if the patient becomes septic and febrile. Granulocyte-colony stimulation factor (G-CSF) may be administered to facilitate the recovery process with daily monitoring of neutrophil count. Mortalities from antibiotic-induced neutropenia remain rare, with a range of 2.5–5%.

  • Maria Elizabeth Karavassilis, Dmitriy Chernov, Sinda Dakhlia, Paramalingam Saravanan
    Views: 35 HTML: 5 PDF: 17

    Background: We describe a case of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) in a 16-year-old patient who initially presented with clinical features of septic meningoencephalitis. This case outlines the importance of considering a diagnosis of MOGAD in patients who fail to improve with appropriate antimicrobial therapy or show a positive clinical response to glucocorticoids (often used in treatment of meningococcal meningitis). We emphasise the importance of recognising that an infectious prodrome can precede MOGAD.
    Case description: A 16-year-old male was admitted with vomiting, fever, headache, photophobia and altered mental state. He was treated for meningoencephalitis with initial clinical improvement. Lumbar puncture findings were suggestive of viral meningoencephalitis. During admission the patient went through several periods of transient clinical and biochemical improvement, alternating with periods of symptomatic relapse. On day 17 of admission, he was transferred to a tertiary centre for suspected autoimmune disseminated meningoencephalitis (ADEM) and two days later, he suffered a catastrophic neurological decline with new dysarthria, dysphagia, aphasia, horizontal nystagmus and facial paralysis. He made a remarkable neurological recovery after commencing treatment with IV immunoglobulin, IV methylprednisolone and plasma exchange, with complete resolution of symptoms.
    Conclusion: MOGAD can run a variable course and present soon after a central nervous system infection, making the diagnosis more challenging. Nonetheless, patients can achieve a full neurological recovery with early recognition, diagnosis and treatment of this rare entity.

  • Benedetta Marigliano, Luigi Scuro
    Views: 43 HTML: 7 PDF: 28

    Hyponatremia is a common complication in patients undergoing neurosurgery. If undiagnosed, it has a negative prognostic impact. The two dominant causes of refractory hyponatremia include syndrome of inappropriate ADH secretion (SIADH) and cerebral salt wasting syndrome (CSWS). Discrimination between the two types of disease is not always obvious. We present a case of undiagnosed chronic hyponatremia caused by CSWS after neurosurgery, which not only resulted in a longer hospital stay but also slowed the patient’s postoperative recovery. Meticulous clinical evaluation and the performance of appropriate laboratory tests are therefore essential not only for decisive treatment, but also for the establishment of comprehensive diagnostic algorithms that allow timely diagnosis and decisive therapy.

  • Nikhil Sood, Aniket Vadnerkar, Murali Kodali, Lyn K. Hamacher
    Views: 57 HTML: 11 PDF: 28

    Pneumocystis jirovecii is an opportunistic fungus that infects the lungs but can involve other organs, including the skin and lymph nodes. Risk factors include human immunodeficiency virus (HIV), solid organ/haematological malignancies and a CD4 cell count of fewer than 200 cells/µl. Pneumocystis jirovecii pneumonia (PJP) infection is reported less frequently these days with the advent of prophylaxis with trimethoprim-sulfamethoxazole (TMP-SMX).
    We report a case of extrapulmonary PJP infection in a patient while receiving pentamidine prophylaxis in a T-cell prolymphocytic leukaemia, who underwent an allogeneic stem cell transplant. There are plenty of reported cases of PJP on pentamidine prophylaxis; however, none had cutaneous PJP infection. Cutaneous P. jirovecii infection (CPJ) is an extrapulmonary infection that is rarely reported. Our patient’s skin biopsy was inconclusive, but the skin nodules improved once he was initiated on TMP-SMX. Many transplant patients cannot tolerate TMP-SMX for various reasons and are placed on second-line prophylaxis for PJP, which does not prevent extrapulmonary PJP infections. Our case highlights the challenges of diagnosing such a rare infection in immunocompromised patients. Extrapulmonary PJP should be suspected in patients with a history of pulmonary PJP and persistent elevated Fungitell® levels in low CD4 counts.

  • Amal El-Ouakhoumi, Hajar Joulal, Jaouad Yousfi, Laila Benjilali, Mouna Zahlane, Lamiaa Essaadouni
    Views: 45 HTML: 3 PDF: 32

    Background: The psychiatric manifestations of Sjögren’s syndrome are often overlooked despite their prevalence. They can be revelatory of the disease and include anxiety, depression, dementia and, rarely, psychosis.
    Case description: We report a case of 18-year-old female in whom a major depressive syndrome revealed primary Sjögren’s disease, with a favourable outcome after treatment with rituximab.
    Conclusion: The diagnostic of Sjögren’s syndrome should be considered in patients who present with unexplained and refractory neuropsychiatric symptoms, even in the absence of sicca symptoms.

  • Sierra Sullivan, Jesus Davalos, Jacob Nichols, Flint Smith, Tanis Welch, Alanna Woodward, Alyssa McLean
    Views: 43 HTML: 3 PDF: 25

    Brevibacillus laterosporus, an endospore-forming, aerobic, Gram-positive bacillus, is not only a potential biocontrol agent against plant pathogens but also a rare cause of human infection. Its pathogenicity in humans, especially in immunocompetent individuals, is still not fully understood. Skin infections caused by B. laterosporus are typically opportunistic, entering the skin through cuts, wounds, or other breaches in the skin’s protective barrier, as in the case presented here.

  • Ahlame Benhamdane, Tarik Adioui, Sanaa Berrag, Fouad Nejjari, Mohamed Allaoui, Mouna Tamzaourte
    Views: 31 HTML: 5 PDF: 22

    Introduction: Primary squamous cell carcinoma of the liver (SCC) is a rare and challenging pathology. As an aggressive cancer, the prognosis is extremely poor with less than 12 months overall survival. In view of its low prevalence, we report the case of an elderly patient with primary squamous cell carcinoma of the liver.
    Case description: A 74-year-old female, with no pathological history, presented with acute right hypochondrium pain associated with shivering, asthenia and weight loss. We diagnosed primary hepatic squamous cell carcinoma by pathological analysis.
    Conclusion: Primary hepatic squamous cell carcinoma represents a rare malignant tumour with extremely poor prognosis. There is no established treatment protocol for this disease and a multidisciplinary approach is needed to choose the best therapeutic option.

  • Abdelhadi Farouji, Mohammad N. Kloub, Ahmad W. Haddad, Amaar S. Ahmad, Priscilla Chow, Richard Miller
    Views: 32 HTML: 5 PDF: 23

    Background: Chylothorax can be classified into traumatic and nontraumatic based on the etiology. Nephrotic syndrome is a very rare cause of nontraumatic chylothorax in adults.
    Case presentation: A 66-year-old woman with membranous nephropathy who was non-compliant with her management, presented with dyspnea, and was found to have a large right sided chylothorax. Her chylothorax was secondary to membranous nephropathy after excluding other causes, which has been rarely reported in literature.
    Conclusion: This case highlights the possibility of nephrotic syndrome causing chylothorax, especially in patients with undiagnosed nephrotic syndrome or patients non-compliant with their management. When evaluating a patient with chylothorax, providers should consider nephrotic syndrome in the differential diagnosis.