2021: Vol 8 No 11

Objective: To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.

Methods: A 36-year-old male (birth sex: female) presenting with bilateral PEs in the setting of long-standing, untreated classic 21OH CAH was also found to have bilateral adrenal masses (unconfirmed myelolipomas).

Results: Further history revealed a known diagnosis of CAH. The patient had been treated with glucocorticoid and mineralocorticoid replacement in childhood but stopped taking these medications against medical advice. During his hospital admission, he was noted to have elevated 17-hydroxyprogesterone, low cortisol with elevated ACTH levels, and male-level testosterone measurements. CT of the abdomen/ pelvis revealed a 23 cm mass in the left renal fossa and a 2.5 cm mass in the right renal fossa consistent with bilateral adrenal myelolipomas. The patient attended follow-up in clinic, but declined any further hormonal treatment as he identified as male and felt further treatment was unnecessary.

Conclusion: This case demonstrated the unique long-term effects of untreated classic CAH due to 21OH deficiency, including bilateral adrenal myelolipoma, adrenal compensation to the point of producing male-level androgens, and possibly PEs. Treatment with hydrocortisone was recommended to suppress ACTH and it was planned that the patient would eventually start on testosterone (although this would have been complicated by his bilateral PEs). Potential aetiologies for the PEs included vascular compression of the renal artery (which could explain the elevated EPO/erythrocytosis contributing to hypercoagulability) or the renal vein by the adrenal mass.

Introduction: 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.

Adults infected with SARS-CoV-2 may develop a multisystem inflammatory syndrome (MIS-A) characterized by elevated inflammatory markers and multisystem organ involvement. We report the case of a patient who presented with fever and vomiting at hospital admission. He tested positive for SARS-CoV-2 infection and blood tests showed elevated inflammatory markers. The patient developed acute cardiac dysfunction and shock in less than 24 hours and the echocardiogram revealed an LVEF of 30%. He was discharged 3 weeks later fully recovered. MIS-A should be considered if a compatible syndrome is observed in patients with evidence of SARS-CoV-2 infection by PCR test or serology.

Drug-induced liver injury (DILI) is a challenging diagnosis since a wide variety of medicines can cause adverse reactions. Losartan is an angiotensin II receptor antagonist (ARA-II) approved for the treatment of arterial hypertension. The most common adverse effects are fatigue, anaemia, weakness and cough. An increase in transaminases has been reported with less frequency (<2% of cases). Although the mechanism is not fully understood, DILI onset is usually within 1–8 weeks of therapy, and hepatic enzymology usually normalizes 2–4 months after drug suspension. The authors present the case of a 66-year-old male patient with a medical history of arterial hypertension and a prior hospitalization (4 years previously) for drug-induced hepatitis, which, at the time, was attributed to a dietary supplement. Four years later, because of new onset of hypertension, losartan was reintroduced. After 3 weeks, the patient was admitted to the emergency department with complaints of acute abdominal pain associated with asthenia, nausea and increased abdominal volume that had first developed 8 days previously. After exclusion of other causes, DILI associated with losartan was assumed. This is a very rare adverse effect since only seven cases have been described in the literature.

Rhabdomyosarcoma 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.

We describe the case of a 35-year-old HIV-positive male of African origin diagnosed with neurotoxoplasmosis and a Nannizziopsis spp. cavitating pulmonary lesion unmasking immune reconstitution inflammatory syndrome (IRIS).

The patient presented with headache, left hemiparesis and confusion. MRI of the brain showed two space-occupying lesions in the right basal ganglia and left parietal lobe typical for neurotoxoplasmosis. The patient tested positive for HIV and had advanced CD4 lymphopenia. After commencement of antiretroviral treatment, a CT scan of the chest showed a cavitating lesion in the right upper lobe. The diagnosis of Nannizziopsis spp. fungal infection was confirmed by DNA sequencing on a bronchial wash sample. The patient achieved complete recovery with antiretroviral therapy, standard neurotoxoplasmosis treatment and antifungal treatment with voriconazole for 12 weeks.

Cryoglobulinaemia is defined as the presence of cryoglobulins in the serum, which are immunoglobulins that reversibly precipitate and form a gel when the temperature is <37ºC. Autoimmune diseases such as Sjogren’s syndrome, systemic lupus erythematosus and rheumatoid arthritis could be associated with mixed cryoglobulinaemia vasculitis (MCV). The treatment of MCV generally consists of glucocorticoids, cytotoxic agents such as cyclophosphamide, plasmapheresis or anti-CD20 monoclonal antibodies including rituximab. Here, we present a case of a 60-year-old woman who developed type II MCV in the context of overlap autoimmune disease and who has been treated with a new anti-CD20 agent, obinutuzumab.

Infections of the thyroid gland are rare. Its innate resistance to infections can be attributed to its unique anatomical features and rich blood supply. High clinical suspicion is required as a delay in diagnosis can lead to significant morbidity and mortality. Major pathogens include the Gram-positive Staphylococcus aureus and Streptococcus species; however, Gram-negative organisms have been found especially in immunocompromised hosts. We present a rare case of acute suppurative thyroiditis (AST) secondary to Escherichia coli (E. coli) infection in a woman known to be infected with human immunodeficiency virus (HIV).

Infection with Mycobacterium marinum is common in fish, and so human infection usually arises from contact with contaminated water or fish. A solitary papulonodular lesion on a finger or hand is the typical presentation. Disseminated infections are rare and mostly seen in immunocompromised patients.

We present a rare case of disseminated M. marinum infection presenting with polyarthritis, tenosynovitis, dactylitis, and (sub)cutaneous and intramuscular lesions in an immunocompetent patient. This case was complicated by hypercalcemia, renal failure and eventually death. A contaminated rain barrel was most likely the primary source of the infection.

Artery of Percheron occlusion is a rare cause of ischaemic stroke characterized by bilateral thalamus infarction. Presentation is varied and non-specific, with the most frequent manifestations being altered level of consciousness, hypersomnolence or altered oculomotor movements. We describe the case of a 37-year-old man hospitalized for hypersomnia and hypomnesia with 3 days of evolution, who was diagnosed with a bilateral thalamus stroke due to artery of Percheron occlusion.

Raoultella ornithinolytica is a bacterium that belongs to the Enterobacteriaceae family. The most frequently reported infections are gastrointestinal and hepatobiliary. Urinary tract infections are very rarely reported and bloodstream infections are usually reported without an identified source. This bacterium is responsible for an increasing number of infections, especially in immunocompromised patients. The authors describe the first case ever reported of an immunocompromised patient due to non-Hodgkin lymphoma MALT type and corticotherapy, who developed urinary tract infection and subsequently bacteriemia due to this pathogen.

Cutaneous infections caused by the Mycobacterium chelonae complex show a heterogeneous clinical presentation, which varies according to the patient’s immune status. Most standard antimycobacterials have no effect against these species. Clarithromycin alone was shown to provide adequate treatment, although resistance has been reported. Consequently, the literature supports multi-drug therapy to combat resistant strains. Here, we describe the case of a 59-year-old man under systemic immunosuppressive therapy who developed cutaneous lesions whose evolution was highly suggestive of atypical infection.

Allergic angina and allergic myocardial infarction are common diseases associated with acute coronary syndromes and encompass a wide spectrum of mast cell activation disorders termed "Kounis Syndrome". We present here a patient with Kounis syndrome presenting with sudden cardiac arrest after intravenous infusion of dexketoprofen in the emergency room.

Acquired haemophilia A (AHA) is a rare haemorrhagic disorder caused by the development of autoantibodies inhibiting factor VIII function. It predominantly affects the elderly, who are often burdened with a considerable number of comorbidities, and can result in life-threatening bleeding. The management of AHA consists of two aspects: inhibitor eradication with an immunomodulator and bleed control with a bypassing agent.

Here we present a case of AHA with a high titre inhibitor in a patient with extensive comorbidities and atrial fibrillation in whom inhibitor eradication could not be achieved within a few weeks using corticosteroids alone. Due to coronavirus disease (COVID)-19 restrictions and complications of care, emicizumab offered an effective and convenient therapy, not only sparing the need for continued and intensified inhibitor eradication, but also allowing anticoagulation for stroke prophylaxis.

Background: Retroaortic course and azygos continuation of aberrant left brachiocephalic vein is a rare venous anomaly, which is usually associated with congenital heart disease and pulmonary artery anomalies. Venous stasis is a cause of pulmonary arterial thromboembolism, which can result from venous anomalies.

Case presentation: We describe the case of a 91-year-old female admitted to our hospital with shortness of breath diagnosed with pulmonary embolism and infarctions by a CT pulmonary angiogram. CT also showed aberrant left brachiocephalic vein with vascular webs at its retroaortic course and azygos continuation, suggesting chronic venous thrombosis, which was considered to be the suspected source of emboli.

Conclusion: To our knowledge, this is the first report presenting this vascular anomaly manifesting with chronic venous thrombosis and pulmonary embolism. Although rare, awareness and identification of this entity is important, especially in the absence of obvious embolic sources or in patients with recurrent embolus/consolidation.

This case highlights the importance of differentiating between Crohn’s disease and intestinal tuberculosis. The rates of misdiagnosis of Crohn’s disease and intestinal tuberculosis range from 50% to 70% because of their non-specific and clinically similar manifestations.If intestinal tuberculosis is misdiagnosed as Crohn’s disease, use of immunomodulatory drugs commonly used for Crohn’s disease can increase the risk of disseminated tuberculosis. Here we present a case highlighting the clinical similarity between these two distinct medical conditions and suggest how a similar scenario can be approached, which can help to differentiate between the two otherwise very similar conditions.

Ropivacaine is commonly used for post-operative pain management. We describe a case of neuroleptic malignant-like syndrome in a woman administered ropivacaine delivered using a drug infusion balloon. The presenting symptoms were confusion, agitation and fever. Blood analysis showed elevated C-reactive protein, leucocytosis and increased creatine phosphokinase. As intoxication was suspected, ropivacaine was suspended and the patient gradually improved. Possible leakage of ropivacaine into the intrathecal space may have resulted in central nervous system toxicity.

We report a case of ceftriaxone-induced encephalopathy correlated with high cerebrospinal fluid concentration. Neurotoxicity of cephalosporin is increasingly reported, especially regarding fourth-generation cephalosporins. The factors influencing the corticospinal fluid (CSF) concentration are plasma concentration, liposolubility, ionization, molecular weight, protein binding and efflux. In our patient, high levels of ceftriaxone (27.9 mg/l) were found in the CSF. β-lactam associated neurotoxicity is mainly related to similarities between GABA and β-lactam ring. Because of disparate CSF/plasma ratio and blood-brain barrier efflux among patients, plasmatic drug monitoring probably cannot be used as a surrogate of CSF concentration. This is, as we know, the first case of described ceftriaxone-induced encephalopathy associated with an objective excessive cerebrospinal concentration.

Hepatic adenomatosis (HA) is a very rare condition and defined as the presence of 10 or more adenomas in an otherwise normal liver. HA has an incidence of 10–24% in patient with hepatic adenoma and it is more common in women. Most patients with HA are asymptomatic with a normal liver function test and half of cases are detected incidentally on imaging. Although HA is considered a benign disease, some patients may develop potentially fatal complications, such as hypovolaemic shock due to rupture of the liver lesion or malignant transformation to hepatocellular carcinoma.
We report the case of a 29-year-old woman who presented to the emergency room after a car accident. Whole-body computed tomography revealed multiple focal hepatic hypervascular lesions in the right lobe of the liver together with a fatty liver. Subsequent hepatic magnetic resonance imaging suggested the diagnosis of HA with a suspicion of focal nodular hyperplasia (FNH). The patient refused to undergo liver biopsy, so we instituted a 3-month surveillance program, which included clinical assessment, liver function tests, tumour marker assessment and blood tests as well as sonographic evaluation for follow-up of the liver lesions.

Thrombocytopenia and hypercoagulopathy are haematological abnormalities commonly seen in individuals with coronavirus disease 2019 (COVID-19) and systemic lupus erythematosus (SLE). The difficulty arises when the patient has both diseases concurrently. The clinician should be able to comprehend the pathophysiology of these patient abnormalities in order to provide the best treatment possible. We present a case of a 20-year-old female COVID-19 patient with a history of SLE who had thrombocytopenia but normal D-dimer results. Our analysis revealed that the thrombocytopenia may have been caused by a relapse of lupus, not by COVID-19 infection. In this case, glucocorticoids were the primary therapy and produced excellent results.

Involvement of the central nervous system, although uncommon, is one of the most frequent extramedullary manifestations of chronic lymphocytic leukaemia (CLL). Various conditions can lead to neurological symptoms in CLL patients and distinguishing between clinically significant CLL involvement of the CNS and other aetiologies can be challenging.
The authors report the case of a 90-year-old woman with a previous diagnosis of low-risk CLL who presented to the emergency room with altered mental status. After the most frequent causes were ruled out and considering the underlying disease, CNS infiltration by clonal B-cells was hypothesised and later confirmed. Treatment was initiated, but the patient died soon afterwards.