Vol 7 No 3
  • Andreia Margarida de Matos, André Goulard, André Ribeiro, Ricardo Freitas, Catarina Monteiro, Paulo Martins

    Introduction: Extramedullary plasmacytomas are present in 13% of multiple myeloma (MM) patients. Less than 5% of MM cases are non-secretory. The orbital location is uncommon and a minority of orbital tumours are plasmacytomas.
    Description: The patient was a 71-year-old man, with right proptosis, retro-ocular pain and epistaxis with visual acuity 2/10, limitation of upper eye movement and scattered ecchymosis. Blood tests revealed severe anaemia, coagulopathy, increased serum creatinine, LDH and C-RP without improvement after antimicrobial treatment. Peripheral immunophenotyping showed 9.4% of plasma cells with intracytoplasmic clonal κ chains. IgG and λ chains were decreased with normal plasma and urine immunofixation. Orbital CT: retro-orbital superomedial tumour with bone destruction. Histology of the tumour and bone biopsy was consistent with plasmacytoma. The patient was deceased in 2 weeks.
    Discussion: MM accounts for 10% of haematopoietic tumours; 7% of cases present with plasmacytomas at diagnosis. Orbital locations are rarely reported (frequently in the temporal region). Proptosis, ptosis and reduced visual acuity are common symptoms. However, orbital pain is less frequent. Most cases of MM demonstrate hypergammaglobulinaemia. Only 5% of MM cases are non-secretory.
    The uncommon location, topography, symptom peculiarities and absence of monoclonality led to the diagnostic challenge of this fatal case of MM.

  • Valentina Tosatto, Cristiano Cruz, Teresa Ferreira, Torcato Moreira Marques, Matteo Boattini, André Almeida, Rita Barata Moura

    The authors report the case of an 86-year-old woman presenting with recurrent Klebsiella pneumoniae bacteraemia. She had severe aortic stenosis submitted to a recent transcatheter aortic valve implantation (TAVI). Initially, Klebsiella pneumoniae bacteraemia from a urinary source was diagnosed . Following another 4 episodes of bacteraemia with the same agent, the source was ultimately found to be a periprosthetic abscess. Considering the patient’s unsuitability for surgery, a decision was made for life-long antimicrobial therapy. This approach has been successful in preventing recurrences or complications. Endocarditis is one of the most severe complications seen following TAVI, often carrying a poor prognosis. Even though Klebsiella spp. are common pathogens for healthcare-associated infections among the elderly, they are seldom the causative agent for endocarditis. Being the first reported case of TAVI-related Klebsiella endocarditis, it was successfully managed using a medical approach.

  • Marta Freixa, Sara Úria, Glória Nunes da Silva

    Reactive arthritis (ReA) with the classic triad of arthritis, conjunctivitis and urethritis, previously termed Reiter’s syndrome, is a systemic illness, usually induced by genitourinary or gastrointestinal infections. However, it can be a rare complication of intravesical Bacillus Calmette-Guérin instillation (iBCG), a therapy prepared from attenuated strains of Mycobacterium bovis, a common and effective treatment for carcinoma in situ of the bladder (CisB). We report a case of a patient with CisB who developed ReA after iBCG. The symptoms resolved completely with corticosteroids. iBCG was stopped with no recurrence of carcinoma within 2 years.

  • Zahra Abdulwahed AL Saeed, Fatimah Mohammed Alabdrabalnabi, AlAnoud AlAnazi, Waleed Ibrahim Albaker, Osma Abdullah Al-Sultan

    Background: Few cases have been reported with respect to portal vein thrombosis in non-cirrhotic patients. Asymptomatic or non-specific symptoms of portal vein thrombosis may lead to misdiagnosis or may delay the diagnosis until complications develop. We report a case of portal vein thrombosis in a patient with type 1 diabetes presenting as acute pyelonephritis.
    Case description: An 18-year-old female with type 1 diabetes on an insulin pump presented with epigastric abdominal pain for 3 days associated with nausea and vomiting. She was a conscious, alert, young female who appeared to be in pain. Vital signs were stable with a random blood sugar (RBS) level of 179 mg/dl. Abdominal examination revealed a soft and lax abdomen with tenderness in the epigastric area and right renal angle, as well as no sign of rigidity or rebound tenderness. No signs of ascites, splenomegaly or hepatomegaly were noted. Investigations showed a WBC count of 10.2, neutrophils at 65%, urine microsopy analysis revealed WBCs between 30–50 per high power field, with culture showing >105 CFU/ml. All parameters of a thrombophilic screen were within normal values. Computed tomography (CT) revealed reduced enhancement of the right kidney, likely indicating acute pyelonephritis, and left portal vein oedema with complete occlusion. Local factors and prothrombotic disorders were ruled out. The patient was managed with ciprofloxacin, enoxaparin and warfarin. Follow-up imaging revealed complete resolution of thrombosis.
    Conclusions:Portal vein thrombosis is an uncommon condition in the absence of liver disease. Few case reports exhibit sepsis and portal vein thrombosis. Sepsis can create a predisposed environment for hypercoagulability. To our knowledge, this is the first case report of pyelonephritis with portal vein thrombosis.

  • Rita Ribeiro Dias, Inês Henriques Ferreira, Raquel Faria

    We present a case of a 56-year-old man with a history of episcleritis (left) and cluster headache (left) who had a penetrating trauma of the left eye leading to amaurosis 1 month previously. Since then, he developed multiple cranial neuropathy of the right side (V, VII, VIII, IX, X, XI and XII cranial pairs). Magnetic resonance imaging (MRI) revealed an infiltrative lesion of the base of the skull which extended to the retropharyngeal and jugular space, which progressed to multiple leptomeningeal masses extending to the clivus, despite aggressive immunosuppression. Rebiopsy of 1 meningeal mass supported the diagnosis of neurosarcoidosis. The patient finally responded to high-dose prolonged infliximab therapy, with complete remission.

  • Debora Cardoso, Andreia Coelho, Leonor Fernandes, Leonor Vasconcelos Matos, Isabel Serrano, Helena Miranda, Ana Martins

    Background: Breast cancer is the most commonly diagnosed cancer in women, mainly at an early stage, allowing treatment with curative intent. Aromatase inhibitors are widely used in the adjuvant treatment of oestrogen receptor-positive breast cancer, mainly in postmenopausal women. The most frequent adverse events associated with these therapies are musculoskeletal symptoms and an increased risk of bone fractures. Cutaneous adverse events have been rarely described. Sweet’s syndrome can present as an idiopathic disorder in addition to being malignancy-associated or drug-induced.
    Case presentation: We report the case of a 69-year old woman, diagnosed with early stage breast cancer, who underwent breast-conserving surgery, followed by adjuvant radio and endocrine treatment with letrozole 2.5 mg daily, for a foreseeable duration of 5 years. Three months after starting letrozole, she presented with sudden fever and exuberant and painful erythematous skin papules and plaques on her upper body. After a full work-up and exclusion of other potential causes, a skin biopsy confirmed the presence of dermal oedema and a diffuse neutrophilic infiltrate, suggesting Sweet’s syndrome. After discontinuation of letrozole and treatment with corticosteroids, the patient fully recovered. She resumed adjuvant treatment with tamoxifen, without symptom recurrence.
    Conclusions: Sweet’s syndrome is a rare condition and an association with aromatase inhibitors has not been previously reported. Although its occurrence has already been observed in the onset of malignancies such as breast cancer, aromatase inhibitors must be added to the list of potential causes of drug-induced Sweet’s syndrome.

  • Dimitra Koumaki, Vasiliki Koumaki, Sotirios Boumpoucheropoulos, Alexander Katoulis, Panagiotis Bitados, Maria Stefanidou, Konstantinos Krasagakis

    Introduction: Turicella otitidis, described as a new species over 20 years ago, has been isolated mainly from the external ear canal and middle ear fluid. Here, we report the first case of palmoplantar eczema related to T. otitidis.
    Case presentation: Here, we report the first case of palmoplantar eczema in a 74-year-old female related to T. otitidis.
    Conclusions: The question as to whether T. otitidis is a potential pathogen in cases of dyshidrotic eczema is still open, but this could be better elucidated if corynebacteria were speciated more often.

  • Eleonora Bonfanti, Christian Bracco, Paolo Biancheri, Andrea Falcetta, Marco Badinella Martini, Remo Melchio

    Background: The causes of inflammatory bowel disease (IBD) have not yet been clearly elucidated, but it is known that genetic susceptibility, altered gut microbiota and environmental factors are all involved, and that a combination of these factors causes an inappropriate immune response, resulting in impaired intestinal barrier function. With regard to the treatment of IBD, the use of conventional immunosuppressive drugs has been complemented by more specific therapeutic agents, including biological drugs. Systemic immune suppression is a risk factor for cytomegalovirus (CMV) infection, which is associated with considerable morbidity and mortality in immunocompromised hosts.
    Case Report: A 33-year-old male patient was admitted to our medical unit complaining of a 10-day history of fever, fatigue and headache. He had been suffering from ulcerative colitis and primary sclerosing cholangitis for five years and was currently being treated with azathioprine and vedolizumab. In the past he had already taken infliximab, adalimumab and golimumab without any clinical response. After the exclusion of systemic infectious diseases, his serology was consistent with a primary CMV infection. This was successfully treated with intravenous ganciclovir therapy.
    Conclusion: Vedolizumab is an anti-integrin biological agent approved for IBD treatment. Its gut-selective mechanism of action would appear to increase its safety profile, however data on this are still limited. Moreover, it should always be remembered that IBD patients have an increased risk of CMV infection, both primary and reactivation, because of their concurrent immunosuppression.

  • Mónica García-Arpa, María Rodríguez-Vázquez, David Bellido-Pastrana, Natalia Villasanti-Rivas, Marcos Carmona-Rodríguez

    Manifestations of chronic cutaneous lupus erythematosus are variable. Periorbital and facial swelling occurs in dermatomyositis and systemic lupus, but it has been rarely reported as a manifestation of exclusively cutaneous lupus. A 48-year-old woman presented with a 16-year history of asymptomatic, bilateral swelling and erythema of her face with marked worsening after sun exposure. No systemic symptoms were associated. A complete evaluation did not reveal other findings. Cutaneous biopsy showed features of lupus erythematosus. She was treated with photoprotection, topical tacrolimus, hydroxychloroquine and azathioprine with a partial response. Facial swelling with erythema represents quite an unusual manifestation of chronic cutaneous lupus erythematosus. Dermatomyositis, systemic lupus and Morbihan disease are the main differential diagnoses.

  • Noel Lorenzo Villalba, Santiago Díaz Nicolas, Maria Belen Alonso Ortiz, Zaida Cordoba Sosa, Saturnino Suárez Ortega, Abrar-Ahmad Zulfiqar

    We report the case of a 27-year-old man presenting with slowly progressive extrapyramidal dysfunction and learning disability considered to have a syndromic intellectual disability. The re-evaluation of the clinical features and the investigations performed led to the diagnosis of atypical pantothenate kinase-associated neurodegeneration (PKAN).

  • Michael Harrison Storandt, Chandra Thondapi, Abhishek Matta

    Introduction: Diabetic myonecrosis is an uncommon complication of diabetes mellitus, most often occurring in patients with poorly controlled, insulin-dependent diabetes. Its etiology is poorly understood, with many suggesting microvascular occlusion to be a key factor resulting in necrosis of skeletal muscle.
    Case presentation: A 28-year-old male with a history of poorly controlled type I diabetes mellitus and end-stage renal disease requiring dialysis presented to the emergency department with severe pain of the lower extremities bilaterally.
    Results: Work-up included an x-ray, which demonstrated no acute fractures but extensive vascular calcification of the lower extremities, and Doppler ultrasonography, which showed no DVT. MRI demonstrated severe muscular edema with patchy, geographic areas of sparing, which, in conjunction with the patient’s clinical presentation, allowed for a diagnosis of diabetic myonecrosis. He underwent conservative treatment, consisting of rest and pain management, leading to resolution of symptoms.
    Discussion: Diabetic myonecrosis, although uncommon, can be easily diagnosed with a high degree of clinical suspicion. It typically presents in a patient with poorly controlled diabetes, and will commonly involve the proximal muscles of the lower extremity unilaterally, but may present bilaterally and involve the distal muscles, as demonstrated in this case. Diagnosis is made via MRI, and it is treated conservatively with pain management and rest. Most cases resolve with conservative management but recurrence is common.

  • Adelaide Pereira Alves, Ana Barroso, Margarida Dias

    Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare pulmonary condition characterized by diffuse proliferation of neuroendocrine cells in the epithelium of the bronchial wall. DIPNECH may be easily missed in daily clinical practice and diagnosis is often delayed, which may impair prognosis since this condition is considered a pre-invasive lesion for lung carcinoid tumours. We report a clinical case of DIPNECH in order to discuss the diagnostic and therapeutic approach for this entity, the management of which is not yet well established in the literature.

  • Pedro Neves Tavares, Patricia Alves, Rita Lizardo Grácio, Paula Gonçalves Costa, Carla Falcão, Catarina Duarte Santos, Filipa Amado

    Polyarteritis nodosa is a systemic necrotizing vasculitis that typically affects medium-sized muscular arteries, with occasional involvement of small muscular arteries. Most cases of polyarteritis nodosa are idiopathic but multiple infectious agents have been associated with this disease. We present a clinical case of a 72-year-old male with fever, diarrhoea and haemodynamic instability, diagnosed with a bacterial infection caused by Salmonella Typhi. One week after clinical resolution of the infection, the patient developed purpuric lesions with ulcers, pustules and necrotic areas accompanied by testicular pain and weight loss of 5 kg over the previous 15 days. A skin biopsy was performed and it revealed typical histologic signs of polyarteritis nodosa. The aetiologic association between bacteria of the genus Salmonella and polyarteritis nodosa has been previously described in the scientific literature but seldom meeting classification criteria and with histologic confirmation.

  • Bárbara Pedro, Marta Meleiro, António Marinho

    Mycobacterium tuberculosis affects the middle ear in rare cases and is a challenging diagnosis. In this case, we present a 57-year-old patient diagnosed with anti-neutrophil cytoplasmic antibody (ANCA)-negative granulomatosis with polyangiitis (GPA) following a biopsy result of nasal granulomas, who was immediately started on immunosuppressive treatment. Years later, she developed progressive hypoacusis. Magnetic resonance imaging (MRI) revealed an extensive mass in the tympanic cavity extending to the mastoid. A biopsy of the mass was positive for Mycobacterium tuberculosis. Immunosuppressants were weaned and the patient was started on anti-tuberculous therapy with resolution of the complaints and findings. Tuberculous infections are difficult to diagnose and frequently mimic other illnesses, but in our case, we believe that an indolent tuberculous process was present from the beginning and evolved under immunosuppressive therapy.

  • Noel Lorenzo Villalba, Maria Belen Alonso Ortiz, Zaida Cordoba Sosa, Saturnino Suárez Ortega, Abrar-Ahmad Zulfiqar

    A 77-year-old man was admitted to the internal medicine department for a 5-day history of progressive preauricular swelling. Two lines of antibiotic treatment failed to achieve any improvement. Fine needle aspiration cytology was conducted and smear staining with the Ziehl-Neelsen stain as well as a PCR test were positive for Mycobacterium tuberculosis. These results were confirmed with culture of the sample. A diagnosis of tuberculosis parotitis was made and anti-tuberculous drugs were initiated.