Vijaya Raj Bhatt

Invasive fungal infections in acute leukemia

Invasive fungal infection (IFI) is among the leading causes for morbidity, mortality, and economic burden for patients with acute leukemia. In the past few decades, the incidence of IFI has increased dramatically. The certainty of diagnosis of IFI is based on host factors, clinical evidence, and microbiological examination. Advancement in molecular diagnostic modalities (e.g. non-culture-based serum biomarkers such as β-glucan or galactomannan assays) and high-resolution radiological imaging has improved our diagnostic approach. The early use of these diagnostic tests assists in the early initiation of preemptive therapy. Nonetheless, the complexity of IFI in patients with leukemia and the limitations of these diagnostic tools still mandate astute clinical acumen. Its management has been further complicated by the increasing frequency of infection by non-Aspergillus molds (e.g. zygomycosis) and the emergence of drug-resistant fungal pathogens. In addition, even though the antifungal armamentarium has expanded rapidly in the past few decades, the associated mortality remains high. The decision to initiate antifungal treatment and the choice of antifungal therapy requires careful consideration of several factors (e.g. risk stratification, local fungal epidemiologic patterns, concomitant comorbidities, drug–drug interactions, prior history of antifungal use, overall cost, and the pharmacologic profile of the antifungal agents). In order to optimize our diagnostic and therapeutic management of IFI in patients with acute leukemia, further basic research and clinical trials are desperately needed.

Extranodal natural killer/T cell lymphoma, nasal type presenting as a palatal perforation and naso-oral fistula

Extranodal natural killer/T cell lymphoma (ENKL), nasal type, a rare disease presenting with vague non-specific symptoms, can impose great diagnostic difficulties and may masquerade several infectious, rheumatological or neoplastic conditions. Here, the authors report a case of ENKL presenting as a palatal perforation, naso-oral fistula and fever in a 21-year-old man, which was initially misdiagnosed as bacterial osteomyelitis, invasive fungal infection and Wegeners granulomatosis. The case report underlines the possibility of ENKL occurring at a young age, its rapidly progressive and locally destructive nature, associated diagnostic challenges and the importance of immunophenotyping in establishing the diagnosis.

Unilateral orbital pain and eyelid swelling in a 46-year-old woman: orbital metastasis of occult invasive lobular carcinoma of breast masquerading orbital pseudotumour

Orbital metastasis is very infrequent in breast cancer; more so as an initial and sole presenting feature. The authors report a case of orbital metastasis of occult breast carcinoma in a 46-year-old woman, who presented with unilateral orbital pain and eyelid swelling. This was initially diagnosed as orbital pseudotumour and treated with steroids. The development of breast symptoms and finding of breast nodule, 3 months later, led to the diagnosis of invasive lobular carcinoma of the breast with orbital metastases, confirmed on biopsy.

Port-a-cath embolisation to pulmonary artery.

Intravascular embolisation of catheter, a relatively uncommon event associated with the use of totally implanted port devices, can have serious cardiovascular, pulmonary and septic complications with an overall mortality of 1.8%. Here, the authors report an asymptomatic patient with pulmonary artery catheter embolisation diagnosed incidentally in a positron emission tomography scan who underwent successful percutaneous extraction of the catheter in an attempt to avoid the possible dreadful complications.

Recurrent imatinib-induced hepatotoxicity in a chronic myeloid leukaemia patient successfully managed with prednisone

Imatinib, the frontline tyrosine kinase inhibitor (TKI), has revolutionised the management of chronic myeloid leukaemia (CML). Severe hepatotoxicity, although uncommon, can occur with this drug. This tends to subside with dose reduction or cessation, but can recur with reintroduction of the drug. Recurrent severe hepatotoxicity mandates permanent discontinuation of imatinib. This can cause difficulties in the management of CML, more so if the patient cannot afford or get access to alternate therapy. Furthermore, alternate therapy, for example, second-line TKIs, can impose a huge economic burden on a healthcare system. Here, the authors report the case of 20-year-old CML patient who developed recurrent hepatotoxicity with the use of imatinib. Introduction of corticosteroids enabled successful reintroduction of imatinib therapy.

Right upper quadrant pain and mass in a 41-year-old previously healthy man: a presenting feature of HIV-associated extranodal diffuse large B cell lymphoma with cardiac involvement

With an increasing pandemic of HIV/AIDS, the incidence of HIV-associated lymphoma is expected to rise. Here, the authors report a case of a 41-year-old man who presented with right upper quadrant pain and mass, and was subsequently diagnosed with HIV-associated diffuse large B cell lymphoma (DLBCL) with cardiac involvement. This case illustrates some of the uncommon and interesting aspects of DLBCL: primary extramedullary extranodal stage IV disease as the presenting feature; cardiac involvement at presentation; DLBCL as the only clue to the diagnosis of HIV; and management of HIV-associated DLBCL. This case is also a reminder of the importance of the routine HIV screening for all patients between the ages of 13–64 years, as advocated by centres of disease control and prevention.

A 20-year-old Chinese man with recurrent hypokalemic periodic paralysis and delayed diagnosis

Periodic paralysis in the setting of hypokalemia can be the result of several underlying conditions, requiring systematic evaluation. Thyrotoxic periodic paralysis (TPP), a curable cause of hypokalemic periodic paralysis, can often be the first manifestation of thyrotoxicosis. Because the signs and symptoms of thyrotoxicosis can be subtle and clouded by the clinical distress of the patient, the diagnosis of the underlying metabolic disorder can be overlooked. The authors report a case of TPP in a young Chinese man in whom the diagnosis of thyrotoxicosis was initially missed. This case illustrates the lack of awareness of TPP among many physicians, delay in the diagnosis of TPP and the importance of performing thyroid function testing in all cases of periodic paralysis.

T cell acute lymphoblastic leukaemia presenting with sudden onset right oculomotor nerve palsy with normal neuroradiography and cerebrospinal fluid studies.

Leptomeningeal disease presenting with neurological dysfunction is not uncommon in leukaemia. However, it is often accompanied by abnormalities in cerebrospinal fluid (CSF) studies and/or neuroradiography. Here, the authors describe a case of a young patient presenting with sudden onset right oculomotor nerve palsy with normal neuroradiography and CSF studies, who was subsequently diagnosed to have T cell acute lymphoblastic leukaemia (T-ALL). This case highlights that neurological manifestations can be the initial presenting feature of T-ALL and can occur suddenly despite normal neuroradiography and initial CSF studies.