2021: Vol 8 No 5

2021: Vol 8 No 5
  • Teiko Kawahigashi, Taro Shimiszu, Takashi Kawabe, Yoshitoshi Kida, Kazunao Watanabe

    A 79-year-old woman presented with left retro-orbital pain, headache and blurred vision. Based on negative radiological tests, life-threatening conditions like subarachnoid haemorrhage (SAH) were ruled out and outpatient follow-up was planned. However, the patient returned to the hospital that night because of progressively declining consciousness and was diagnosed with SAH by head computed tomography. The diagnosis of SAH is often challenging, especially in cases with negative radiological results. We describe some strategies, other than radiological examination, for ruling out SAH, such as performing a lumbar puncture and repeating tests to take account of disease progression, and describe biases which can affect clinical decision-making.

  • Nuno Melo, Sílvia Policarpo, Manuela Dias, Jorge Almeida

    Drugs can cause fever of unknown origin. Drug fever is a diagnosis of exclusion and can lead to unnecessary investigations and prolonged hospitalization. Any drug can be responsible. Here, we describe the case of a woman admitted because of acute hepatitis. Pantoprazole was started for stress ulcer prophylaxis when she was admitted to the ICU. Fever developed a few days later and an extensive diagnostic work-up was negative. Fever remitted after pantoprazole discontinuation and the diagnosis of drug fever was established.

  • Laila Alromaih, Leena Abdalla, Arifa Jamal, Assim Osman, Mohanad Bakkar, Lina Abdul Samad, Tamer M Ahmed

    Chronic 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.

  • Filipa Leal, Luís Nogueira, Teresa Martins Mendes, Ana Silva Rocha, Dinis Sarmento, Francisco Pombo, Bárbara Silva

    Hypoparathyroidism is a rare endocrine disorder and its main cause is cervical surgery such as thyroidectomy. The incidence of hypoparathyroidism after total thyroidectomy varies, and is reported to be between 0.3 and 6.3%. In terms of brain imaging, hypoparathyroidism can cause calcification mainly of the basal ganglia, with other areas rarely affected. Concerning extracerebral calcification, few studies have investigated the prevalence of visceral calcifications. 
    We describe a case of a woman with secondary hypocalcaemia who presented with a transient ischaemic attack (TIA) and the investigation revealed an extensive calcinosis of the brain and the vascular structures responsible for the event.

  • Yasmine Makhlouf, Soumaya Boussaid, Houda Ajlani, Samia Jemmali, Sonia Rekik, Hela Sehli, Mouhamed Eleuch

    Background: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a one of the more common hereditary autosomal disorders. However, osteomalacia in neurofibromatosis type 1 is very rare tumour-induced osteomalacia; fibroblast growth factor-23 is usually implicated.

    Patients and methods: We report the case of a patient with a history of von Recklinghausen neurofibromatosis who presented with hypophosphataemic osteomalacia.

    Results: The patient was treated with high-dose calcitriol and oral phosphate with clinical improvement.

    Conclusion: Even though it is a rare entity, we must consider the diagnosis of hypophosphataemic osteomalacia in patients with neurofibromatosis in order to deliver appropriate treatment.

  • Kadhim Al-banaa, Alfarooq Alshaikhli, Asal AL-Hareeri, Mohammed Abdelhalim, Alsadiq Al-Hillan, Tejas Joshi

    Antiphospholipid syndrome (APS) is a multisystemic autoimmune disease which presents with thromboembolic disease, pregnancy complications and the presence of antiphospholipid antibodies. There are some reports of arterial dissections in different sites of the body associated with APS. We describe two patients with APS who developed ischaemic stroke as a result of vertebral artery dissection in the absence of acquired and genetic risk factors for arterial dissection. We also conducted a systematic review of the literature for cases of arterial dissection associated with APS. We suspect that APS may be a potential cause of vasculopathy and arterial dissection. Further research is needed to explore this possible association.

  • Alenka Golicnik, Eda Vrtacnik Bokal , Vojka Gorjup

    Vasopressin is involved in cardiovascular homeostasis that can influence coronary perfusion. It is commonly used as a local vasoconstricting agent during gynaecological procedures.

    We present a case of cardiac arrest and inverse Takotsubo features following intramyometrial vasopressin administration during myomectomy. The patient was successfully resuscitated and recovered completely. Cardiac presentation was compatible with inverse Takotsubo cardiomyopathy that could have been triggered by high-dose vasopressin-induced coronary vasoconstriction. The patient’s cardiac function resolved with no long-term sequelae.

    Takotsubo cardiomyopathy usually results from an excessive catecholaminergic surge. High-dose vasopressin-induced coronary vasospasm could have been the mechanism underlying the clinical presentation in our patient.

  • Silke Knol, Rogier L Nijhuis, Felix Geeraedts, Gerard Linssen

    Case description: A 67-year-old man was admitted with progressive heart failure, due to blood culture-negative endocarditis of the aortic valve. In early course, urgent aortic valve replacement was needed. A polymerase chain reaction test (PCR) on samples of the explanted aortic valve revealed Tropheryma whipplei. He received ceftriaxone, followed by long-term co-trimoxazole. Recent arthralgia may have been a diagnostic clue.

    Conclusion: Whipple’s endocarditis should be assessed in patients with arthralgia and blood culture-negative endocarditis (BCNIE).

  • Mohamed Labied, Houria Tabakh, Hamza Guezri, Abdellatif Siwane, Najwa Touil, Omar Kacimi, Nabil Chikhaoui

    Lipomatous pseudohypertrophy (LPH) of the pancreas is an uncommon affection of exocrine pancreatic insufficiency. It is defined as substitution of the pancreatic exocrine gland by a large fat component. We report the case of a young patient with malabsorption syndrome (chronic diarrhoea and steatorrhoea), abnormal laboratory results and normal fibroscopy. Computed tomography revealed characteristic diffuse pancreatic abnormalities.

  • Alessandra Anna Manco, Veronica Alfieri, Letizia Gnetti, Marina Aiello, Giuseppina Bertorelli, Maria Majori, Alfredo Chetta

    We report the case of a 46-year-old male patient who was referred for chest pain and bilateral pleural effusion. Despite treatment with antibiotics and steroids, the pleural effusion worsened over a few months until pulmonary function was halved. The CT scan showed bilateral pleural thickening with right basal opacity. Histology revealed extensive fibrotic tissue with focal collections of lymphocytes and giant cells without traces of asbestos bodies. Since no evidence of an infectious, embolic or occupational aetiology was found, this bilateral pleural effusion progressing to diffuse pleural thickening was diagnosed as cryptogenic fibrosing pleuritis, a rare pleural disease.

  • Carina Ramalho, Mariana Almeida, Francisco Gomes, Magda Silva, Silvia Rodrigues

    Current scientific evidence shows that SARS-CoV-2 infection is associated with an increased risk of thromboembolic events. In patients with ischaemic heart disease and heart failure, thrombi of the left ventricle can increase patient mortality, mainly due to the risk of systemic embolization. Given the hypercoagulable state associated with COVID-19, such events may be more likely. We describe a patient hospitalized for congestive heart failure and SARS-CoV-2 infection who was diagnosed with a thrombus in the left ventricle. After the thrombus was identified on echocardiography and treated with anticoagulation, it completely resolved and cardiac function improved.

  • Eleonora Virgilio, Domizia Vecchio, Paola Naldi, Roberto Cantello

    Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease involving the skin and central nervous system (CNS), and also characterized by skeletal and spinal schwannomas that may cause chronic neurogenic pain. Furthermore, pain in NF1 is underestimated, even though it has an impact on quality of life. Multiple sclerosis (MS) is the most common acquired demyelinating disease that may in later stages present with refractory spasticity, particularly in the lower limbs. Oromucosal cannabinoid sprays are currently available for spasticity treatment in MS, with encouraging results on MS pain, but few data have been reported regarding the use of cannabinoids in NF1. We report the successful treatment of chronic neurogenic pain and spasticity in a patient with co-occurrence of NF1 and MS after a poor response to standard approaches.

  • Cemal Ulusoy, Andrej Nikolovski, Nazım Öztürk

    Abdominal cocoon syndrome (sclerosing encapsulating peritonitis) is a rare condition associated with clinical signs of intestinal dysfunction, episodes of small bowel obstruction and sometimes a palpable abdominal mass. We present the case of a 46-year-old male patient with clinical signs of intestinal obstruction caused by primary sclerosing encapsulating peritonitis.

  • Anete Zieda, Silvia Sbardella, Malika Patel, Richard W. Smith

    During the COVID-19 pandemic, healthcare systems have faced unprecedented pressures. One challenge has been to promptly recognise non-COVID-19 conditions. Cognitive bias due to the availability heuristic may cause difficulties in reaching the correct diagnosis. Confirmation bias may also affect imaging interpretation. We report three cases with an alternative final diagnosis in whom COVID-19 was initially suspected: (a) Pneumocystis jirovecii pneumonia with unrecognised HIV infection; (b) pulmonary lymphangitis carcinomatosis; and (c) ST elevation myocardial infarction causing acute pulmonary oedema. To help mitigate bias, there is no substitute for thoughtful clinical assessment and critical appraisal when evaluating new information and formulating the differential diagnosis

  • Javier Guerrero-Niño, Sara De Cesaris, Xavier Jannot, Noel Lorenzo Villalba

    A 74-year-old patient anticoagulated with rivaroxaban for chronic atrial fibrillation presented to the emergency department with acute lumbar pain with progressive weakness of the lower limbs and inability to stand up. No previous trauma was reported. Neurological examination was consistent with a complete spinal cord syndrome at the level of T6. Magnetic resonance imaging showed the presence of spinal cord compression associated with signs of extensive intramedullary inflammation secondary to a haematoma. The patient underwent thoracic laminectomy with evacuation of an intradural haematoma. No intraoperative complications were described, but no clinical improvement had been achieved 15 days after the surgical intervention.

  • João Cruz Cardoso, David Ferreira, Rui Assis, Joana Monteiro, Inês Coelho, André Real, Nuno Catorze

    Streptococcus oralis is part of the normal flora of the oropharyngeal, nasal, gastrointestinal and genitourinary tracts. Classically, it shows low pathogenicity and virulence, but can very rarely cause meningitis in patients who have undergone dental procedures and have poor oral hygiene.
    The purpose of this report is to highlight the importance of considering S. oralis as a cause of meningitis in patients with poor oral hygiene.
    A 53-year-old man was admitted to the emergency department with high fever (39.4°C), headache and drowsiness. His mouth was unhygienic. He was diagnosed with meningitis and empiric antibiotics (ceftriaxone plus ampicillin) and dexamethasone were started. S. oralis was isolated from cerebrospinal fluid. Ampicillin and dexamethasone were stopped, while ceftriaxone was continued with full recovery of the patient.

  • Nadia Mariagrazia Giannantoni, Elia Rigamonti, Francesca Irene Rampolli, Lorenzo Grazioli-Gauthier, Gilles Allali, Gianluca Vanini

    The current SARS-CoV-2/COVID-19 pandemic has led to a global health crisis. The clinical spectrum of SARS-CoV-2 infection ranges from asymptomatic infection to critical illness affecting almost every organ including the central and peripheral nervous systems. Myoclonus, a less expected and relatively unusual neurological complication, together with ataxia, has lately been associated with SARS-CoV-2 infection. We describe the case of a 67-year-old male patient, admitted to our hospital for interstitial bilateral pneumonia due to SARS-CoV-2 infection, who progressively developed general myoclonus and later cerebellar ataxia and gait disturbance. Given the timeline from COVID-19 systemic symptoms to neurological manifestations and the normal results of extensive and non-conclusive diagnostic work-up (blood test, lumbar puncture, EEG, cerebral MRI), a para-infectious encephalopathy related to SARS-CoV-2 was contemplated and a high dose of methylprednisolone was started with prompt symptom improvement. 
    Further investigation and neuroepidemiological studies are needed to help define the mechanism of neuroinvasion and the entire spectrum of neurological manifestations of SARS-CoV-2 infection, even in mildly affected patients, in terms of prevention, treatment and possible neurological sequelae.

  • Ashraf Nadeem, Ali Wahla, Ashraf Altarifi

    Mucormycosis is a rare fungal infection that often causes rhinocerebral disease. However, there have been rare cases of mediastinal involvement. These patients remain a therapeutic challenge and mortality in this group is very high. We report a case of mediastinal mucormycosis with invasion of the heart and right lung in a patient with chronic granulomatous disease (CGD) and also review the available literature on mediastinal mucormycosis.

  • Gianluigi R Palmieri, Mattia Sansone, Roberto De Simone, Marcello Moccia

    Background: Diplopia is the double vision of a single object, and can be binocular or monocular. Binocular diplopia is caused by the misalignment of the visual axes, with images falling on the fovea of the fixating eye and on the extra-foveal retina of the non-fixating eye, as a consequence of both neurological (i.e., oculomotor nerve palsies, ocular myopathies, neuromuscular junction disorders) and ophthalmic disorders (i.e., decompensation of a pre-existing strabismus). In contrast, monocular diplopia is generally explained by intraocular pathology (i.e., refractive errors, ocular media abnormalities, dry eyes), causing the image of a single object to fall, at the same time, on the fovea and on the extra-foveal retina of the same eye.

    Methods: We report the case of a 22-year-old woman presenting with acute-onset monocular diplopia.

    Results: The diagnosis of idiopathic intracranial hypertension (IIH) was based on the presence of papilloedema and elevated cerebrospinal fluid (CSF) pressure. Monocular diplopia resolved after CSF subtraction.

    Conclusions: We describe a case of monocular diplopia as a presenting symptom of IIH, and discuss diagnostic issues of this possibly underestimated symptom in neurology clinical practice. Careful ophthalmic and neuro-ophthalmic examination can identify clinical features of diplopia, and drive diagnosis and treatment.

  • Aurora Fuiani

    Multiple sclerosis (MS) can sometimes cause uncommon pseudotumoural lesions that produce atypical symptoms, such as motor epileptic seizures which are often pharmacoresistant. In these cases, accurate diagnosis is essential for correct therapy, even if unconventional. We present the case of a brain tumour in a 40-year-old relapsing-remitting MS patient who presented with pharmacoresistant seizures which eventually responded to nabiximols. After various therapeutic approaches, delta-9-tetrahydrocannabinol therapy was introduced with good results. Spasticity improved, pain decreased and we observed a reduction in the number of daily seizures. It is possible that delta-9-tetrahydrocannabinol can enhance the efficacy of anti-epilepsy therapy.