2022: LATEST ONLINE

2022: LATEST ONLINE
  • Maria Margarida Rosado, Cláudia Queirós, Vanda Conceição, Nuno Bernardino Vieira, Luísa Arez

    Fever of unknown origin remains a diagnostic challenge. Aortitis, defined as inflammation of the aorta, has multiple infectious and non-infectious causes.<br/>
    We report the case of an elderly woman with vertigo and bilateral hearing loss, presenting with fever of unknown origin. Blood tests were remarkable for leucocytosis with neutrophilia, elevation of C-reactive protein and the erythrocyte sedimentation rate, and positive antinuclear antibodies and rheumatoid factor, and an unremarkable search for multiple infectious causes of fever. During admission the patient developed a bilateral red eye. Abdominal and chest computed tomography was performed and demonstrated signs of aortitis.
    Due to the coexistence of aortitis, ocular inflammation, vertigo and bilateral hearing loss in a patient with persistent fever and elevation of inflammatory parameters, a presumptive diagnosis of Cogan’s syndrome was made, with improvement after initiation of steroid therapy.

  • Cristina Marques, Dany Cruz, Francisca Pereira, Ana Martins, Daniel Martins

    Glomus tumour is a rare benign mesenchymal neoplasm usually located in the dermis and subcutis, and most commonly found in the extremities. Glomus tumour in the gastrointestinal system is rare and its symptoms unspecific. The diagnosis of gastric glomus tumour is challenging due to the lack of specific findings on imaging and blood analysis, and so is usually based on histology and immunochemistry. We describe the case of a 22-year-old man admitted for pallor and anaemia, the diagnostic path, treatment and follow-up. The present case suggests that this rare entity should be considered in the differential diagnosis of gastric lesions.

     

  • Mohammad Abu-Abaa, Maryam Al-Mohammed, Aliaa Mousa

    Lithium is a medication commonly used as a mood stabilizer and can have numerous long-lasting side effects. In this case report, we aim to remind clinicians of such consequences. A 68-year-old woman with a psychiatric history presented for mild COVID-19 and developed sinus bradycardia. A permanent pacemaker was planned for her but was cancelled following good history-taking which revealed prior lithium use. The patient was found to have hyperparathyroidism and hypothyroidism, treatment of which resolved the bradycardia. This case serves to remind clinicians that history-taking remains of paramount importance as in this scenario of bradycardia in a psychiatric patient. An invasive therapeutic measure was precluded by good history-taking. There are several mechanisms by which hypothyroidism and hyperparathyroidism can induce bradycardia. COVID-19 infection can also induce bradycardia.

  • Aditya Patel, Noreen Mirza, Ruhma Ali, Mohammad Nabil Rayad, Asrar Ahmad, Ahsan Khan

    Introduction: Cocaine is a highly addictive substance that stimulates the sympathetic nervous system and cardiovascular system. A multitude of adverse cardiovascular events are associated with cocaine use including arrhythmia, congestive heart failure, coronary artery spasm and myocarditis. <br/>
    Case Report: We present a rare case of Takotsubo cardiomyopathy after recent use of cocaine in a female without any other identifiable risk factor.<br/>
    Discussion: Takotsubo cardiomyopathy (TCM) is a reversible cause of cardiomyopathy characterized by transient decrease in ejection fraction. Cocaine is a sympathomimetic that causes catecholamine surge and a variety of cardiovascular abnormalities. The association of cocaine use with Takotsubo cardiomyopathy is a rare occurrence, however the prognosis is generally good if diagnosis is made promptly. <br/>
    Conclusion: Physician vigilance is required to diagnose this rare cause of cardiomyopathy and reduce morbidity and mortality. 

  • Syed Ather Hussain, Huda Fatima, Hafsa Faisal, Meenakshi Bansal

    Acquired amegakaryocytic thrombocytopenia (AAMT) is a rare disorder of the bone marrow characterized by a lack of megakaryocytes and preservation of other cell lines. It can occur due to an intrinsic stem cell defect or secondary to viral infections, autoimmune disorders, lymphoproliferative disorders or environmental toxins. With time, it can progress to aplastic anaemia (AA) and can have a poor prognosis. No standard guidelines exist for the treatment of AAMT progressing to AA. Herein, we report a rare case of AAMT leading to AA and review the handful of cases previously published in the literature.

  • Camila Marchi Blatt, Rafaela Vianna Magalhães, João Vitor Soares Cruz, Larissa Nunes, Gibran Avelino Frandoloso, Gabriel Savogin Andraus, Rebecca Saray Marchesini Stival

    Takotsubo syndrome is known for its association with psychological stress factors. Rarely, it is associated with invasive procedures. We present a case of Takotsubo induced by bronchoscopy, a procedure with a low rate of complications.

  • Leila C Tou, Andrew A Wang, Taha A Siddiqui, Michael Mamone

    Introduction: Hemolysis, elevated liver enzymes, low platelet count (HELLP) syndrome is a leading cause of maternal mortality. The emergence of Coronavirus disease 2019 (COVID-19) has led to challenges in diagnosing HELLP syndrome due to overlapping clinical and laboratory presentations. We report a case of HELLP syndrome complicated by COVID-19 infection.

    Case Description: An otherwise healthy pregnant 31-year-old female presented with fever, myalgia, and headache. She was found to be COVID-positive with laboratory signs of HELLP syndrome. Symptoms and laboratory findings trended toward normal post-partum confirming the diagnosis of HELLP syndrome.

    Discussion: A prompt diagnosis of HELLP syndrome is essential to avoid maternal and fetal complications. Clinicians should be aware of the similarities in presentation between HELLP syndrome and COVID-19 for timely diagnosis and treatment.

  • Attout Hassene, Sofia Amichi, Hichem Bouhamla

    Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder commonly found among individuals of Mediterranean or Middle Eastern descent and caused by Mediterranean Fever gene (MEFV) mutations on chromosome 16. It is the most frequent periodic febrile syndrome among the autoinflammatory syndromes. Typical febrile attacks include serosal inflammation, but although FMF is characterized by recurrent polyserositis, there is a little documentation of pericardial disease among patients. 

    We report the case of a patient who presented recurrent pericarditis. Each episode occurred with a high fever and elevation of the C-reactive protein level. Treatment with colchicine was effective. The patient was found to be heterozygous for the V726A mutation. 

  • Carolina Prieto-Saldarriaga, Carlos Esteban Builes-Montaño, Clara Maria Arango-Toro, Cindy Manotas-Echeverry, Juan Camilo Pérez-Cadavid, José C Álvarez-Payares, Luis Antonio Rodriguez Arrieta

    We present the case of a patient with a history of symptomatic hypoglycaemic episodes and a negative 72-hour fasting test with histological confirmation of insulinoma. A literature review of hyperinsulinaemic hypoglycaemia with a negative fasting test was performed.

  • Attout Hassene, Stephane Guez

    The porphyrias are rare inherited diseases of heme biosynthesis which can involve the nervous system. The most common neurological manifestations of acute intermittent porphyria are autonomic visceral neuropathy, peripheral motor neuropathy, and central nervous system dysfunction. In rare cases, patients with acute intermittent porphyria have presented with cerebral infarction, suggested to be due to vasospasm in cerebral arteries. We report a case of reversible vasospasm in porphyric encephalopathy demonstrated by both magnetic resonance and conventional angiography. Unexplained abdominal pain occurred before the onset of neurological symptoms.

  • Tulika Chatterjee, Moni Roy, Sharjeel Ahmad

    Clostridioides difficile infection (CDI) commonly presents with diarrhoea, colitis, and in more severe cases, toxic megacolon. Extraintestinal Clostridioides difficile infection (EI CDI) is rarely reported. Intraabdominal abscesses are the most commonly reported EI CDI presentation. EI CDI-associated bacteraemia, as well as bone, lung, and even intracranial infections have been reported in the literature. EI CDI is usually seen in patients with multiple comorbidities. Due to the rarity of cases, no clear treatment guidelines exist, but metronidazole and vancomycin have been primarily used to treat EI CDI and additional antibiotics have been used for treatment when the isolates are polymicrobial. We report a case of a patient with significant comorbidities who developed EI CDI following acute ruptured appendicitis. She was successfully treated with drainage of abscess and intravenous metronidazole followed by oral metronidazole.

  • Ojbindra KC, Punya Hari Dahal, Manisha Koirala, Sumeet Kumar Yadav

    Introduction: mRNA COVID-19 vaccines are very safe, but rare adverse events such as transverse myelitis have been reported after COVID-19 vaccination.

    Case Description: We report the case of 50-year-old man who presented with progressive lower extremity weakness, back pain and urinary retention after his second dose of the Pfizer COVID-19 vaccine. MRI of the spine revealed longitudinally extensive transverse myelitis (LETM). He recovered completely after treatment with intravenous methylprednisone and physical therapy. 

    Discussion: This case highlights the rare association between LETM and COVID-19 vaccines and encourages clinicians to maintain a high index of suspicion for prompt diagnosis and treatment.

  • Aaisha Shah, Adeel Nasrullah, Muhammad Ali Butt, Meilin Young

    Tacrolimus is commonly used as a prophylactic against acute rejection in transplant patients. Tacrolimus toxicity has numerous presentations that have been well documented in the literature and can be induced by a wide variety of agents. We present a novel case of tacrolimus toxicity in a cardiac transplant patient induced by outpatient treatment for COVID-19 pneumonia with ritonavir-nirmatrelvir, which was successfully treated with phenytoin therapy.

  • Hira Aslam, Anam Kamal, Ali Nauman Khan, Ahmed Jamal Chaudhary, Rana Ismail

    Introduction: Lymphangiomas are rare, congenital malformations arising from lymphatic hyperplasia. More than 90% of cases are found in children under 2 years of age. Cystic lymphangiomas usually occur in the neck and axillary region and only rarely extend to the mediastinum.

    Case Description: We present the case of a middle-aged woman who presented with dyspnoea and productive cough. A chest x-ray showed right lower medial lung opacity, and a CT scan of the thorax showed a cystic mediastinal mass, encroaching on the superior vena cava and approaching the trachea and mainstem bronchus. An anterior thoracotomy with tumour resection was performed to relieve compression symptoms. The final pathology report confirmed the diagnosis of mediastinal lymphangioma.

    Discussion: Lymphangioma should be considered as one of the differential diagnoses when mediastinal widening is found on chest x-ray, and it should be investigated further with a CT scan and biopsy. Infiltration of surrounding structures can cause compression symptoms and can also make surgical resection more challenging.

  • Kristine Vo, Yoshito Nishimura, Jennifer Yokoyama, Amanda Wasko, Taryn Miyake, Kimberly Vu, James Zhang, Jesus Pino Moreno, Dipanjan Banerjee, Lisa Kim, Christina Chong

    Eosinophilic myocarditis (EM) is a rare cause of acute heart failure. It can occur secondary to drug hypersensitivity, autoimmune diseases such as vasculitis, idiopathic hypereosinophilic syndrome (HES) or malignancy, but is often under-recognized and underdiagnosed, being confused with other causes of heart failure. While EM is associated with various clinical symptoms, it is rarely associated with cardiac tamponade that requires urgent pericardiocentesis. Here we describe a patient with EM who presented with cardiac tamponade and decompensated heart failure likely secondary to autoimmune disease.

  • Stephanie Farrugia, Monique Cachia, James Degaetano, Michael J Boffa

    Thrombosis of the palmar digital veins is relatively rare, typically reported in women aged 35-65 years and most commonly occurring on the fourth digit. Clinical presentation varies and the lesion can present on the fingers or the palms of the hands. Diagnosis may be suspected clinically and confirmed on histology and radiologically. The condition can be managed conservatively or surgically. A 58-year-old woman presented with a 3-month history of a tender, skin-coloured nodule on her right palm. This was surgically excised, and the histopathological diagnosis was a thrombosed varix. As no underlying medical issues were raised on further testing, it was thought that her thrombosed varix was likely secondary to repeated trivial mechanical trauma, given that she was a housewife. A literature review yielded 36 cases of thrombosed varix, including our case. Most cases (85.3%) occurred in females, and the mean age of patients was 51.67 years, with two-thirds of patients between 35 and 65 years of age. The fourth digit and the proximal interphalangeal joint were the most commonly affected sites, respectively. Although rare, doctors should consider the possibility of a thrombosed varix when presented with tender and raised nodules on the palms or fingers.

  • Zachary Bruss, Shanza Farook, Sana Shah, Abu Baker Sheikh

    Sirolimus is an inhibitor of the mammalian target of rapamycin, which is used in kidney transplant immunosuppression. The clinical spectrum of cutaneous adverse events associated with sirolimus use varies, with maculopapular rash being an uncommon side effect very rarely reported in the literature. We present the case of a 78-year-old male renal transplant recipient who developed a diffuse maculopapular pruritic rash after starting sirolimus. This case report demonstrates that maculopapular rash is an uncommon sirolimus-related side effect that must be identified promptly so the medication can be discontinued and rash progression prevented.

  • Melissa van den Bulck, Claude Berenger Ngah, Hyppolyte Ntula, Yilmaz Gorur, Benoît Cardos, Denis Brisbois, Noel Lorenzo Villalba, Deeba Ali

    Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between the arteries and veins of the pulmonary vasculature leading to a right-to-left shunt. We report the case of a pregnant patient who presented with chest pain revealing a haemothorax secondary to the rupture of an arteriovenous malformation. The diagnosis was made during arteriography after simultaneous performance of an urgent caesarean section and thoracic drainage.

  • Jesus Romero, Rachel Abboud, Sherif Elkattawy , Ana Romero , Omar Elkattawy, Abdel Azez Abu Samak , Razan Shamoon

    The abuse of inhalants has become a public health concern in the USA over the past decade. Compressed air duster cans currently available in the USA contain highly toxic substances including different hydrofluorocarbons (including tetrafluoroethane and difluoroethane) which exert a psychoactive effect on the central nervous system. Several cases of inhalant-induced lethal arrhythmia such as ventricular fibrillation evolving to torsade de pointes and leading to cardiac arrest, have been reported in the literature. Furthermore, multiorgan failure including liver and kidney injury has been described after inhalant abuse. 
    We report the case of a 33-year-old man found diaphoretic and with a near syncopal episode after inhalation of several cans of Surf Onn electronic duster gas cleaner, who subsequently developed acute cardiac, liver and kidney injury.

  • Mohammad Abu-Abaa, Mohamed Hassan, Bashar Oudah, Noor Al-Ameri

    A 67-year-old man with a history of IgM deficiency and pulmonary fibrosis and bronchiectasis was admitted for management of worsening symptoms. Investigations revealed exudative pleural effusion with rapidly progressive bronchiectasis. Although a potential trigger of bronchiectasis and pulmonary fibrosis was not identified despite extensive work-up by several physicians in the past, a bedside observation of yellow dystrophic nails on all extremities revealed the diagnosis. This case report helps to remind clinicians of a rare medical disorder of still uncertain aetiology and no available cure. This case is consistent with a few previous case reports that suggest a potential association with selective immunoglobulin deficiency.

  • Maria Tomkins, Mark McCabe, Stephen Crowther, Clive Kilgallen, Dilly Little, Diarmuid Smith, Amar Agha

    A 22-year-old female presented with a twelve-year history of intensifying paroxysms of anxiety, palpitations and recurrent syncope following micturition. The patient was referred to endocrinology upon discovery of hypertension. Extended family history revealed metastatic phaeochromocytoma and paraganglioma in two grand-uncles. Clinical examination revealed hypertension, mean 24hr ambulatory blood pressure of 150/100mmHg. Supine plasma normetanephrines were markedly elevated with a raised 3-methoxytyramine, plasma metanephrines were normal. Computed tomography identified a 4.4cm mass at the right inferolateral margin of the bladder wall. Scintigraphic imaging confirmed unifocal bladder lesion uptake with no additional metastatic lesions.  Following pre-operative alpha blockade, the patient underwent a partial cystectomy. Histology confirmed a paraganglioma, SDHB staining was lost in neoplastic cells consistent with an SDHB-related paraganglioma. Plasma normetanephrine, 3-methoxytyramine and blood pressure returned to normal postoperatively. Genetic screening identified a germ line heterozygous SDHB gene variant c.723C>G. Bladder paragangliomas are a rare but important differential to consider when investigating post-micturition syncope. Extended family history should be sought and suspicion for a genetic cause should be raised, especially when presenting at a young age. This is the first reported case describing phaeochromocytoma or paraganglioma with the SDHB gene variant c.723C>G.

  • Kenny Garcia-Ramiu, Ibrahim Mohsin, Alexandra Ikeguchi; Brian Newberry

    Introduction: We describe an unusual case of metastatic melanoma of the brain with an unknown primary site during pregnancy.
    Case Description: A 35-year-old woman in the third trimester of pregnancy presented with ataxia, nausea, vomiting, headaches and diplopia. CT of the brain revealed a hyper-attenuating 2.1 cm mass in the fourth ventricle with mild obstructive hydrocephalus. A healthy newborn was delivered by urgent caesarean section. Craniotomy and resection of the brain lesion confirmed melanoma. Pathology of the placenta reported a ‘focal nest of melanocytes identified in intervillous space’.
    Discussion: Brain and maternal placenta pathology findings were consistent with melanoma, making this case relevant because of the possibility of metastatic melanoma in a fetus.
    Conclusion: Epidemiological data on congenital and infantile melanoma are scarce. Also, there is no database for long-term follow-up of children born to pregnant mothers with metastatic melanoma. Delayed presentation of melanoma in the child cannot be ruled out.

  • Federica Parlato, Diana Cristina Buendia Palacios, Maria Adão Serrano, Filipa Gonçalves, Carolina Carreiro, João Gouveia

    Poisoning is a frequent cause of emergency department visits, with attempted suicide accounting for up to two-thirds of all fatalities from pesticide poisoning. Despite extensive pyrethroid use worldwide, relatively few cases of human poisoning have been reported in the literature. Although most pesticide use occurs in the developed world, 99% of all acute pesticide poisoning occurs in developing countries. Deltamethrin poisoning is uncommon, with fewer than 10 deaths reported following ingestion or occupational exposure.
    The present case report describes deltamethrin intoxication due to intentional oral ingestion in a suicide attempt, resulting in a life-threatening combination of seizures and coma due to non-convulsive status epilepticus.