2021: Vol 8 No 10

Good’s syndrome is a rare adult-onset combined immunodeficiency. The association of hypogammaglobulinaemia with a history of recurrent infectious or autoimmune manifestations in a middle-aged patient with evidence of a mediastinal mass should lead to the clinical suspicion of Good’s syndrome. The mortality rate associated with infectious complications is high. Thus, although it is rare, the disease should be diagnosed early so that proper treatment can be started. Thymectomy and immunoglobulin replacement are the main therapeutic strategies. We describe the case of a patient with a history of thymoma and recurrent respiratory infections, with a late diagnosis of Good’s syndrome in the context of severe organizing pneumonia secondary to COVID-19.

Angioimmunoblastic T-cell lymphoma (AITL) can be complicated by Epstein-Barr virus (EBV)-positive B-cell lymphoma. B-cell lymphoma may develop simultaneously at the time of AITL diagnosis or after treatment for AITL. EBV-associated B-cell lymphoma can occur in nodal and extranodal sites. We report a case of EBV-positive diffuse large B-cell lymphoma (DLBCL) of the left adrenal gland that developed after treatment for AITL.

The patient presented with systemic lymphadenopathy and biopsy of one lymph node showed AITL. A complete response (CR) was achieved after initial chemotherapy for AITL, but 9 months later the left adrenal gland was enlarged. The diagnosis of EBV-positive DLBCL was made based on the histopathological findings of the left adrenal gland biopsy. Thus, EBV-positive DLBCL developed after AITL CR was achieved. Multi-drug chemotherapy combined with rituximab was administered for adrenal DLBCL, but only a partial response was achieved.

We confirmed that EBV-positive B-cell lymphoma developed after treatment for AITL. An adrenal primary is rare, and this is only the second case of EBV-positive B-cell lymphoma to be reported after treatment for AITL. Clinicians should keep in mind that when nodal and extranodal lesions are seen after AITL treatment, another biopsy should be performed for the accurate determination of whether these lesions indicate AITL relapse or new-onset EBV-positive B-cell lymphoma.

Deep neck space infection and viral myocarditis related to coronavirus disease 2019 (COVID-19) have both been described in the medical literature. However, there are only three reported cases of retropharyngeal infection as a presenting pathology in the setting of COVID-19.

A 26-year-old woman presented to the emergency room with fever and neck swelling and pain 1 month after COVID-19 infection. A computed tomography scan of the neck demonstrated tonsillitis with retropharyngeal infection. She was also found to have heart failure with an ejection fraction (EF) of <20% due to acute myocarditis. Her infection resolved and the EF improved to 40% prior to discharge.

Our case is the first to describe retropharyngeal infection as a late complication in an adult with a history of COVID-19 several weeks previously. It also presented a clinical challenge in terms of tailoring goal-directed medical therapy to manage severe left ventricular dysfunction caused by myocarditis.

Epithelioid 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.

Platypnoea-orthodeoxia syndrome (POS) is a rare disorder and its pathophysiology has puzzled clinicians for years. Few cases of POS are described in COVID-19 patients in the literature, with a high variability of conditions related to the syndrome. 
In this article, we report the case of a patient admitted to our hospital for SARS-CoV-2 interstitial pneumonia, who developed POS during the hospitalization.

Multicentric Castleman disease (MCD) represents a group of poorly understood lymphoproliferative disorders related to proinflammatory hypercytokinaemia. In immunocompetent patients its etiology is still unknown, hence the designation of idiopathic multicentric Castleman disease (iMCD). To successfully diagnose iMCD, diagnostic criteria must be fulfilled and a large array of alternative diagnosis 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 laboratorial remission was achieved and maintained at 2-year follow-up.

We report the case of a 62-year-old male patient fully vaccinated for COVID-19, admitted to our emergency room for persistent fever associated with exertional dyspnoea, skin lesions, diffuse myalgias and arthralgias not responsive to broad-spectrum antibiotic and antiviral therapy, who developed a rapidly progressive refractory to treatment interstitial lung disease due to anti-melanoma differentiation-associated gene 5 (MDA5) antibodies, that required mechanical ventilation and ECMO. Here, we highlight the importance of always considering alternative diagnoses, i.e. viral and autoimmune diseases, including anti-MDA5 antibody screening, when dealing with patients with a skin rash, seronegative polyarthralgias and interstitial pneumonia, or acute respiratory distress syndrome of unknown origin.

Acute kidney injury related to rifampin is usually a clinical diagnosis. We report a case of a man being treated for pulmonary tuberculosis with acute tubulointerstitial nephritis related to rifampicin.

Introduction: Hypercalcaemia is commonly associated with malignancy or endocrinological disorders. However, sometimes it can occur due to increased oral intake of calcium. We present an interesting case of hypercalcaemia due to ingestion of sunflower seeds and calcium carbonate supplements.

Case Description: We present the case of a 53-year-old man with history of T-cell lymphoma and gastroesophageal reflux disease who was brought to the emergency room due to altered mental status, nausea, vomiting and abdominal pain. His calcium level was 3.30 mmol/l (normal value 2.23–2.58 mmol/l). Imaging studies were unremarkable. The patient was hydrated with normal saline and calcium levels improved. Once he was more coherent, he disclosed that he had consumed significant amounts of sunflower seeds and calcium carbonate supplements, which were considered to be the cause of his hypercalcaemia.

Conclusion: Hypercalcaemia is common and can lead to critical illness. Although hypercalcaemia is frequently associated with endocrinological disorders, sometimes the presentation is secondary to increased intake. The consumption of sunflower seeds and antacids containing calcium carbonate can cause symptomatic hypercalcaemia. It is important to recognize rare causes of hypercalcaemia in order to treat it in a timely manner and prevent recurrence.

We report the use of anakinra to treat a case of a 64-year-old man diagnosed with hemophagocytic 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.

Incomplete 90° intestinal rotation in a clockwise direction results in complete common mesentery being placed in a mirror image to and with a similar appearance to complete common mesentery. This rotation places the colon in the right half of the abdominal cavity and the small intestine in the left half of the abdominal cavity.
We report the case of a 19-year-old patient with a history of cerebral palsy secondary to meningitis who presented with melaena and inflammatory anaemia.
CT enterography was performed which showed regular, non-stenosing circumferential wall thickening of the sigmoid colon and rectosigmoid junction compatible with Crohn's disease, which was confirmed by pathophysiology. It also revealed transposition of the colon to the right hemi-abdomen and the small intestine to the left hemi-abdomen, the caecum to the right iliac fossa, and the third portion of the duodenum to the left of the mesenteric vessels.

Coronavirus disease 2019 (COVID-19) is currently a major public health problem. The development of pulmonary fibrosis secondary to acute respiratory distress syndrome (ARDS) is one of the expected sequelae. In this case series, we describe five instances of the use of anakinra in late-phase COVID-19 pneumonia in hospitalized patients with pulmonary fibrosis and refractory respiratory failure fulfilling ARDS criteria. The study demonstrates that anakinra has promising efficacy and safety in late-phase COVID-19 infection in patients with ARDS and refractory hypoxaemia, and suggests its potential application as antifibrotic therapy in these patients.

Background: 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.

Acute gastric volvulus is a rare complication affecting 4% of hiatal hernias. It is described as an abnormal rotation of the stomach around a transverse or longitudinal axis and can be intra-abdominal or intrathoracic. Intrathoracic gastric volvulus can lead to tension gastrothorax, which is defined as the presence of a massive gastric distension in the chest cavity causing a mediastinal shift with haemodynamic instability and a risk of cardiorespiratory arrest. We report a case of intrathoracic gastric volvulus with probable tension gastrothorax. Early diagnosis of gastrothorax with computed tomography and immediate insertion of a nasogastric tube resulted in rapid clinical improvement. Surgical intervention is the treatment of choice.

Hughes-Stovin syndrome is a very rare condition with no defined diagnostic criteria. We present the case of a 26-year-old man who had haemoptysis revealing Hughes-Stovin syndrome. We will consider the aetiology, therapeutic and evolutionary aspects of this disease.

Drugs that inhibit voltage-dependent sodium channels are commonly used to treat epilepsy. Old and novel antiepileptic drugs are used either as monotherapy or in combination to control epilepsy. For a long time, carbamazepine has been used as the first choice for the treatment of simple and complex partial seizures. In the USA, lacosamide was approved in October 2008 as an adjunctive treatment for partial-onset seizures. We describe the effect of two sodium channel blockers on the heart of a patient with epilepsy.