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Chronic Neutrophilic Leukemia with Monocytosis
Get PDFChronic neutrophilic leukaemia is a very rare disease with diagnosis based on persistent leucocytosis >25×103/μl and monocytes <1×103/μl. The revised WHO criteria 2016 included CSF3R gene mutations as a diagnostic finding. We report the case of a 77-year-old man who was found to have asymptomatic persistent mature neutrophilic leucocytosis with monocytosis. Molecular study confirmed the presence of a CSF3R gene mutation in the absence of morphological or genetic features of myelodysplasia or other forms of myelodysplastic syndrome. The patient’s medical history was significant for coronary artery disease, hypertension, chronic obstructive pulmonary disease, bilateral cystic bronchiectasis, moderate pulmonary hypertension, tuberculosis treated 27 years previously, hypothyroidism, and a thyroid nodule. He had hepatosplenomegaly but no lymphadenopathy, and no other malignancy was seen on computed tomography (CT) scanning. At the time of evaluation, he was free of symptoms and had no evidence of infection or drug-induced leucocytosis. The patient was referred to an oncology centre and treated with hydroxyurea and subsequently azacitidine. However, he developed pancytopenia with bone marrow aplasia. He died with neutropenia sepsis. The presence of persistent monocytosis in this case created a diagnostic dilemma as to whether the disease was a variant of chronic neutrophilic leukaemia or was reactive monocytosis
A Tale of Diagnostic Delay with Detrimental Consequences: Illustrating the Challenging Nature of Diagnosing Giant Cell Arteritis
Get PDFGiant cell arteritis is a medical emergency as severe, irreversible complications may occur if it is not treated in a timely manner. However, in daily practice early diagnosis can be challenging. We report the case of a 70-year-old woman who presented with multiple ischaemic cerebral vascular accidents related to newly diagnosed giant cell arteritis. Review of her charts revealed a substantial delay from the onset of symptoms to diagnosis. This case demonstrates the need for additional efforts to reduce delay in referring patients with giant cell arteritis and the need to implement fast-track clinics to prevent serious complications
Epithelioid Trophoblastic Tumour Presenting with Scalp Lesions
Get PDFEpithelioid trophoblastic tumour (ETT) is a very rare variant of gestational trophoblastic disease, which arises in reproductive-age women with a prior gestational history. Because of its rarity, its biological behaviour, imaging characteristics and therapeutic schedule have not yet been fully established. Here we describe a rare case of metastatic ETT in a premenopausal woman. A 40-year-old, gravida 3, para 2, Portuguese woman was referred to the dermatology department for multiple skin nodules on the scalp measuring between 1 and 6 cm. A skin biopsy was suggestive of metastatic lesions of low differentiated carcinoma in favour of squamous cell carcinoma. Staging cervical-thoracic-abdominal and pelvic CT showed multiple lesions compatible with metastasis (ganglia, lung and kidneys). Since a CT scan was unable to identify the primary tumour, it was decided to perform a PET-CT scan and to take a biopsy of a vulvar nodule which had been clinically identified as ETT. The patient began the EMA-CO protocol and completed two cycles but with clinical worsening and radiological progression. Although several different chemotherapy regimens are used to treat gestational trophoblastic disease, the optimal treatment is not known given the rarity of this disease and the lack of controlled trials
Rare Association Between Idiopathic Multicentric Castleman Disease, Nephrotic Syndrome and Polyneuropathy in an Immunocompetent Patient
Get PDFMulticentric Castleman disease (MCD) represents a group of poorly understood lymphoproliferative disorders related to proinflammatory hypercytokinaemia. In immunocompetent patients the aetiology is still unknown, hence the designation of idiopathic MCD (iMCD). To successfully diagnose iMCD, diagnostic criteria must be fulfilled and a large array of alternative diagnoses excluded. Peripheral neuropathy and nephropathy are relatively common findings in cases associated with POEMS syndrome, but very rarely reported in iMCD.We present the case of a 64-year-old man with iMCD (HIV- and HHV-8-negative) with nephrotic syndrome and severe motor polyneuropathy. Alternative diagnoses were excluded. The patient was treated with intravenous glucocorticoid followed by rituximab. Complete clinical and laboratory remission was achieved and maintained at the 2-year follow-up
Bowel Perforation During Haemophagocytic Lymphohistiocytosis Treatment with Corticosteroids and Anakinra
Get PDFWe report the use of anakinra to treat a case of a 64-year-old man diagnosed with haemophagocytic lymphohistiocytosis (HLH) with neurological involvement. After the administration of intravenous pulse corticosteroid therapy, immunoglobulin and anakinra the patient showed neurological recovery. However, the recovery was complicated by the perforation of a pre-existing bowel diverticulum. The effect of anakinra on bowel inflammation has not yet been clearly established. It can potentially augment bowel inflammation and contribute to the risk of bowel perforation associated with the concomitant use of corticosteroids
Eculizumab as a Treatment for Hyper-Haemolytic and Aplastic Crisis in Sickle Cell Disease
Get PDFBackground: Patients with sickle cell disease can experience various crises including sequestration crisis, haemolytic crisis and aplastic crisis. Due to alloantibody formation, transfusion alloantibodies can cause a haemolytic crisis. Treatment involves avoiding packed red blood cell transfusions, as well as intravenous immunoglobulin, steroids and eculizumab to decrease the chances of haemolysis.Case description: We report the case of a 42-year-old man who was found to have worsening anaemia after packed red blood cell transfusion with evidence suggestive of haemolytic crisis. Due to reticulocytopenia, aplastic crisis was also suspected and later confirmed via parvovirus IgG and IgM titres. The patient did not improve with steroid and intravenous immunoglobulin therapy and was treated with eculizumab as a salvage therapy.Conclusion: Concurrent hyper-haemolytic crisis and aplastic crisis should be suspected in patients with features of haemolysis and reticulocytopenia. Prompt recognition and treatment with eculizumab are paramount in those who fail steroid and intravenous immunoglobulin treatment
Acquired Hyperzincaemia Due to Zinc-Laden Denture Adhesives Leading to Hypocupraemia as a Cause of Neutropenia
Get PDFIntroduction: Copper deficiency or hypocupraemia is a rare cause of anaemia and neutropenia. Case description: We hereby present the case of a 34-year-old female with gastric bypass surgery who presented with neutropenic fever, abdominal pain and diarrhoea, later found to have extended-spectrum beta-lactamase resistant Escherichia coli urinary tract infection and small bowel bacterial overgrowth syndrome, with her anaemia and neutropenia being caused by copper deficiency due to hyperzincaemia induced by using zinc denture adhesive cream.Discussion: Various causes of copper deficiency have been recognized including, but not limited to, malnutrition, gastrectomy, gastric bypass surgery, protein-losing enteropathies (coeliac disease, tropical sprue), Wilson disease and Menkes syndrome. Copper deficiency caused by zinc overuse is not very prevalent. The haematologic abnormalities associated with copper deficiency are neutropenia, sideroblastic anaemia and/or pancytopenia.Conclusion: Because of its low prevalence and nonspecific haematologic and clinical manifestations, the diagnosis of zinc-induced copper deficiency (ZICD) can be missed
Incidental Discovery of Embryonal Rhabdomyosarcoma on CT Imaging
Get PDFRhabdomyosarcoma is an uncommon soft tissue sarcoma that rarely presents in adults. Clinical presentation is dependent on site and size. We present the case of a woman who presented with acute-onset dyspnoea and whose pathology report confirmed embryonal rhabdomyosarcoma (ERMS) seen as an incidental finding on chest computed tomography. We also describe the clinical, laboratory and radiological work-up conducted to diagnose and manage ERMS in the critical care setting
"IP.ASS.I avanti nella ricerca…contro la pandemia" incontro con esperti di Incontinentia pigmenti
Get PDFIn occasione della Settimana Mondiale Malattie rare, l’Associazione Italiana Incontinentia pigmenti ONLUS (IPASSI) e la Biobanca Genetica per Incontinentia pigmenti del Cnr(IPGB) organizzano un incontro online dedicato ai pazienti con la malattia rara Incontinentia Pigmenti per affrontare tematiche relative alle nuove sfide della ricerca su questa patologia ai tempi della pandemia.
L'appuntamento intitolato, "IP.ASSI avanti nella RICERCA... contro la pandemia", si svolge via GoToMeeting dalle 11 alle 13: il webinar prevede interventi di medici e ricercatori esperti nel campo della ricerca sull’Incontinentia pigmenti, introdotti dalla presidentessa dell'Associazione IPASSI, e la presenza di un ampio gruppo di pazienti. Verranno discussi dati recenti su questo gruppo di pazienti e sulle opportunità di cura in caso di infezione da Sars-CoV2. L'incontro si inquadra nelle attività previste da Uniamo Federazione Italiana Malattie Rare onlus, che promuove e coordina in Italia tutti gli eventi organizzati nell’ambito della Settimana delle Malattie Rare
Antropocene, pandemia, giustizia intergenerazionale: l'etica pubblica al crocevia fra inclusione ed esclusione del futuro
Get PDFL'articolo si prefigge il compito di sottolineare quanto la crisi pandemica attuale possa essere compresa come un'opportunità per insistere ulteriormente sul considerare la giustizia intergenerazionale e climatica quali priorità per l'etica pubblica corrente. L'idea di fondo del testo è che un'etica del genere dovrebbe fondarsi sul primato della cura delle vulnerabilità future, cercando così di svincolarsi dall'atteggiamento 'presentistico' che predomina nei vari orientamenti morali, politici e giuridici che popolano lo spazio pubblico