2022: Vol 9 No 1

2022: Vol 9 No 1
  • Carolina Miguel Gonçalves, Pedro Neves Tavares, Fátima Saraiva, João Morais, Maria Jesus Banza

    Giant cell arteritis is the most common type of systemic vasculitis. An increased risk of venous thromboembolism has been described in these patients. We report the case of a 79-year-old woman with a history of polymyalgia rheumatica, who presented with left thoracic pain radiating to the neck and scapula plus temporal headache. She had no changes on physical examination, but work-up tests showed increased D-dimer levels and computed tomography pulmonary angiography revealed signs of a chronic/subacute embolism in the right inferior lobe. Anticoagulation with edoxaban was started after 5-day bridging with enoxaparin. Three weeks after the initial diagnosis the headache still persisted and she developed scalp tenderness. Giant cell arteritis was diagnosed and treated with prednisolone, with complete resolution of symptoms. Extensive diagnostic work-up was performed to identify an alternative cause of pulmonary thromboembolism; however, the investigations were negative. This case supports the hypothesis that this type of vasculitis could be related to the occurrence of pulmonary embolism.

  • Yaiza Altuzarra-Ranedo, Daniel Gómez-Ramírez, María Rodríguez-Laguna, Pía Mercedes Lois-Bermejo, Blanca López-Pelaez, Noel Lorenzo-Villalba, Manuel Méndez-Bailón

    We present the case of a 59-year-old man with acute B19 parvovirus infection who developed a systemic inflammatory reaction similar to adult-onset Still's disease (AOSD). We discuss the clinical challenge due to overlapping symptoms to distinguish between a primary B19 viral infection and the autoimmune disease it can trigger.

  • Miguel Santos, Tatiana Pires, Ana Rodrigues, Adriana Bandeira, Ana Albuquerque, Flávia Santos, Miriam Magalhães, Maria Jesus Banza

    Primary central nervous system lymphoma (PCNSL) is a rare and aggressive extra-nodal non-Hodgkin lymphoma (NHL). It must be confined to the brain, eyes, spinal cord or leptomeninges without systemic involvement at the time of diagnosis. Disease confined to the cerebrospinal fluid (CSF) is a rare form of presentation and poses a particular diagnostic challenge.
    We present the case of an 82-year-old man admitted to hospital because of an acute confusional state, later revealed to be due to PCNSL with exclusive leptomeningeal involvement. The diagnostic process was further impaired (or, perhaps, aided?) by the onset of a COVID-19 outbreak on the ward.

  • Inês Gonçalves, Daniela Barros, Margarida Araújo, Ana Isabel Machado, Camila Oliveira, Luisa Pinto

    Abernethy malformation is a rare congenital extrahepatic portosystemic shunt with variable clinical manifestations, mainly associated with the portosystemic shunt. Hepatic encephalopathy can be the first manifestation. 
    We present the case of a 50-year-old woman with hepatic encephalopathy without liver dysfunction. Further evaluation with contrast-enhanced abdominal computed tomography was performed, showing a large-calibre portocaval shunt from the left portal branch, suggestive of type 2 Abernethy malformation. The patient improved with lactulose and rifaximin but maintained rare encephalopathy episodes. She is therefore currently awaiting surgical treatment. 
    Despite being a rare cause of hepatic encephalopathy, Abernethy malformation should be considered in patients with unexplained hyperammonaemia. Since it is potentially reversible, and early diagnosis and treatment may improve outcome, raising awareness of this malformation is essential.

  • Miguel Trindade, Joana Carvalho, Mariana Barosa, João Serôdio, Ricardo Oliveira, Ana Furtado, Catarina Favas, José Delgado Alves

    Wilson's disease is a rare autosomal recessive condition. A defect on the copper carrier protein ATP7B prevents the excretion of copper, which then accumulates in several organs. The prognosis of Wilson's disease is favourable if the diagnosis is made early. The Leipzig criteria standardized phenotypic classification and diagnostic criteria, thus simplifying the diagnostic approach. A search for ATP7B mutations is not necessary for diagnostic purposes and studies of genotype–phenotype correlation have not produced any conclusive evidence so far. More information is needed to reliably assess the prognosis for each patient. Here we describe a young patient with a combination of two mutational variants: c.3402del and c.3061-12T>A. To our knowledge, this is the first report of this compound heterozygote genotype.

  • Vinit Singh, Dhairya Gor, Sarah Azad, Anthony Ricca, Yiqing Xu, Trishala Meghal

    Dysphagia has a broad aetiology and so it is essential to identify the precise cause. Cervical cancer metastasis is distinctive in that it usually involves local lymph node invasion; however, approximately 1% of cases have mediastinal involvement, which can cause severe compressive symptoms in rare situations. To highlight an uncommon severe manifestation of cervical cancer relapse, we describe a case of dysphagia in a woman with a history of cervical cancer. After a thorough investigation that included endoscopy, endoscopy with ultrasound, an oesophagogram and fine needle aspiration, we eventually reached the diagnosis of mediastinal metastatic cervical cancer. Following interventions, the patient's condition gradually improved, both clinically and radiographically.

  • Micah LA Heldeweg, Joris R Drossaers, Kenrick Berend

    Hyperglycaemic hyperosmolar state (HHS) and diabetic ketoacidosis (DKA) features can occur simultaneously in 27% of diabetic emergencies and have a two-fold increased risk of death. Despite the high prevalence of this combination, recommended treatments from leading guidelines may not be compatible with the clinical picture. 
    A 36-year-old man presented with explicit concurrent HHS and DKA. The recommended treatment with simultaneous insulin and volume repletion was followed but resulted in an excessively rapid decline in serum osmolarity. Hyperosmolar therapy (NaCl 3%) was initiated to mitigate the risk of potentially fatal cerebral osmotic shifts.
    The concomitant presence of DKA and HHS leads to a treatment dilemma with a high risk of excessive osmolarity shifts. More evidence is needed, but it is reasonable to initiate tailored treatment to avoid osmolarity reduction rates exceeding the hypernatraemia-based limit of 24 mOsm/l/day. Hyperosmolar therapy can be considered but requires frequent monitoring of electrolytes and osmolarity.

  • Mariana Bilreiro, Luís Marote Correia

    Introduction: Tetanus is a vaccine-preventable disease caused by a neurotoxin produced by Clostridium tetani that proliferates in wound sites. Toxin interference with neuromuscular function leads to spasms. Trismus, risus sardonicus and opisthotonus are classic features, but tetanus can begin with subtler symptoms.

    Case Description: An 80-year-old man presented with dysarthria. His medical history included hypertension and dyslipidaemia. No other neurological compromise was apparent on admission. Cranioencephalic computed tomography suggested pontine and mesencephalic ischaemia and stroke treatment was implemented. Two days later, the patient displayed dysphagia that required nasogastric intubation. The next day, he developed an apparent tonic seizure with respiratory distress refractory to diazepam and phenytoin, which required sedation and invasive mechanical ventilation. Ultimately, he manifested trismus and generalized spasms. Once the diagnosis of tetanus was established, he was given anti-tetanus immunoglobulin, tetanus toxoid vaccine and metronidazole. Magnetic resonance imaging did not reveal any brain injury. During his intensive care stay, he showed cardiovascular instability, developed nosocomial pneumonia, and required prolonged ventilator support and tracheostomy. He gradually improved during a 70-day hospital stay and regained his previous functional status.

    Discussion: Dysarthria in an older patient with known cerebrovascular risk factors in addition to possible brainstem ischaemia contributed to an incorrect diagnosis of acute ischaemic stroke. Early manifestations of tetanus can mimic focal deficits. The limitations of brainstem computed tomography should be kept in mind.

    Conclusion: Older patients present a broader range of signs suggesting tetanus, including a higher frequency of bulbar symptoms, on presentation. A careful anamnesis including previous vaccination history is key for identifying high-risk patients and to widen the differential diagnosis to include tetanus.

  • Apolonia Berenika Badu, Ade Ajeng Cempakadewi, Brigitta Marcia Budihardja, Anselmus Ake

    Acute intoxication with 2,4-D dimethylamine is rare, often fatal and can cause signs and symptoms in different organ systems. This case report describes the effectiveness of alkaline diuresis as a life-saving treatment for chlorophenoxy intoxication, especially in healthcare facilities without access to haemodialysis. A patient had attempted suicide by ingesting 2,4-D dimethylamine, with toxic effects on the central and peripheral nervous systems, and the gastrointestinal and respiratory systems. However, she significantly improved after alkaline diuresis, accompanied by resuscitation, decontamination of the gastrointestinal system, and supportive therapies.

  • Marcia Agostinho Pereira, Madalena Monjardino Lobão, Antonio Mesquita, Miguel Martins, Rita Ribeiro

    We present the case of a 53-year-old woman of Portuguese ancestry with a diagnosis of progressive systemic sclerosis (SSc), proposed for haematopoietic stem cell transplantation (HSCT). Clinical re-evaluation when assessing eligibility for the procedure led to the alternative diagnosis of familial amyloid polyneuropathy (FAP). We discuss the clinical presentations of FAP and SSc, focusing on their overlapping and distinguishing features. We emphasize the need for a high level of suspicion in order to establish an early diagnosis of FAP in the absence of a family history, and provide prognostic and genetic counselling.

  • Maria Margarida Andrade, Ana Gorgulho, Rita Tinoco Magalhães, Rita Valadas, Luís Miguel Pereira, Sara Freire, Diogo Cruz

    Rickettsia spp. human infection is endemic in Portugal in the form of Mediterranean spotted fever caused by R. conorii subsp. conorii and Israeli spotted fever (ISF) caused by R. conorii subsp. israelensis. We describe a rare case of haemophagocytic lymphohistiocytosis (HLH) due to ISF, with atypical manifestations. We highlight the need for clinical suspicion for this diagnosis and the importance of timely intervention and support.

  • Rosana Maia, Joana Couto, José Diogo Martins, Edgar Torre, Diana Guerra

    Castleman disease is an uncommon and heterogenous lymphoproliferative disorder which is classified as unicentric or multicentric depending on the number of lymph nodes involved. Each type has a different clinical presentation, aetiology, treatment and prognosis. We report the case of a young woman who presented with cervical lymphadenopathy and a retroperitoneal mass, and was diagnosed with unicentric Castleman disease and pheochromocytoma. We describe the diagnostic steps, the complications that developed, and the importance of the differential diagnosis in the evaluation of these patients.

  • David Lopes Sousa, Sandra D. Santos, João Pina Cabral, Ricardo Velho, Ana Sofia Teixeira, Pedro Ribeiro

    Primary adrenal lymphoma (PAL) is a very rare type of non-Hodgkin’s lymphoma (NHL). Herein, we report a case of NHL of both adrenal glands in a 69-year-old man. The patient was admitted because of a 1-month history of B symptoms and symptomatic hypotension. Biochemical analysis showed normocytic normochromic anaemia, hyponatraemia, hyperkalaemia, and elevated lactate dehydrogenase, C-reactive protein and D-dimers. A computed tomography scan revealed bilateral enlargement of the adrenal glands. There was no evidence of endocrine adrenal dysfunction. The mass in the right adrenal gland was biopsied and histopathology identified a diffuse large B-cell lymphoma of the activated B-cell subtype. A positron emission tomography 18F-fluorodeoxyglucose scan showed intensive hypermetabolic lesions involving both adrenal glands, as well as other locations, with higher uptake in the adrenal glands. Taken together, these findings suggested the diagnosis of PAL. The patient responded favourably to debulking therapy and is currently undergoing chemotherapy.

  • Maryam Ameri, Meysam Abolmaali, Sayed Mohammed Jawad Alwedaie, Mohammad Nabavi, Neda Rahimian, Negin Mahmoodi

    Since the beginning of the COVID-19 pandemic, efforts have been made to design safe and effective vaccines against SARS-CoV-2.
    Numerous vaccines have been designed and tested in limited clinical trials in various countries. Among them, the Sputnik V vaccine has shown a relatively safe profile and, to our knowledge, has no associated major side effects. We describe the case of a 40-year-old female healthcare worker who developed severe persistent eczematous lesions on the second day after she received the first dose of the Sputnik vaccine. The eczematous lesions were refractory to an antihistamine and persisted at the 1 month follow-up. Severe persistent eczematous lesions should be viewed as a potential side effect of vaccination with the Sputnik V vaccine. Moreover, a severe allergic reaction to a COVID-2019 vaccine may indicate the vaccine is ineffective in the recipient.

  • Nida Siddiqui, Brett Stephen Mansfield, Nine-Paula Olmesdahl, Peter Swart, Jeremy Nel

    Paradoxical immune reconstitution inflammatory syndrome (IRIS) in human immunodeficiency virus (HIV)-positive patients initiating antiretroviral treatment (ART) is caused by restored immunity to specific antigens, resulting in worsening of a pre-existing infection. Molluscum contagiosum (MC) is commonly noted in HIV-positive individuals but ART alone is usually sufficient to bring about resolution. We present a rare case of severe MC-IRIS that worsened despite immune reconstitution.