Diagnostic Issues

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• Catamenial haemorrhagic pleural effusion caused by thoracic endometriosis, which was controlled by surgery undertaken after failed medical management Mahmoud Farouk Kamel Hassanein, Venessa Herminie, Nuhu Teri James, Danisela Chetty Views: 0 HTML: 0 PDF: 0

  Haemorrhagic pleural effusion can be a challenging diagnosis that requires a thorough investigation and sometimes a multidisciplinary team of physicians to reach the underlying aetiology. Causes can include pulmonary malignancy, pulmonary infections, connective tissue diseases, asbestos associated, intra-abdominal conditions such as pancreatitis and ovarian tumours, cardiovascular disorders such as ruptured aneurysms and pulmonary infarction, as well as other miscellaneous causes. One such cause is endometriosis in the thoracic cavity. Endometriosis is a chronic illness associated with the occurrence of endometrial tissue outside the endometrium. Insertion of endometrial tissue in the thoracic cavity is rare, with only a few cases described. This case report gives detail of a 30-year-old nulligravida suspected of having thoracic endometriosis following a history of catamenial dyspnoea and associated pleural effusion. The diagnosis was confirmed through the histopathological study of tissue obtained via thoracoscopic surgery. Excision of the endometrial tissue was done, and the patient then continued medical treatment with progestins and gonadotrophin-releasing hormone (GnRH) agonists. Following therapy, the index patient was asymptomatic. A multidisciplinary approach is often needed in the diagnosis and management of thoracic endometriosis, involving both medical and surgical specialities. Minimally invasive surgery is the gold standard of diagnosis, allowing for direct visualisation of implants and nodules and should be followed by medical treatment to reduce the risk of recurrence. Medical therapy alone is associated with higher rates of recurrence. Physicians must have a high degree of suspicion as thoracic endometriosis is a disease that can often be missed.

• Polymyalgia rheumatica during the course of limited cutaneous scleroderma: an unusual and challenging coexistence Noel Lorenzo-Villalba, Charlene Habib, Léa Docquier, Edward Nasco, Alessio Imperiale, Emmanuel Andrès, Jean Edouard Terrade Views: 4 HTML: 0 PDF: 1

  A 50-year-old patient with a history of limited cutaneous scleroderma began with polyarthralgia (left shoulder, elbows and hips) without stiffness or associated inflammatory syndrome. Treatment with oral anti-inflammatory drugs was started on suspicion of peripheral spondyloarthritis with partial response. This progressed with the appearance of stiffness and functional limitation of the hips as well as an increase in the inflammatory syndrome two weeks after onset. It was decided to perform an ¹⁸F-FDG-PET scan compatible with polymyalgia rheumatica. The patient was treated with oral corticosteroids with an excellent response after one week of treatment.

• Navigating diagnostic challenges: a case of acquired hepatocerebral degeneration presenting as worsening hepatic encephalopathy in chronic liver disease Daniyal Raza, Natalie Bzowej, James Rini, Rachel Rhinehart, Hrishikesh Samant Views: 23 HTML: 0 PDF: 13

  This case report details the complex diagnostic odyssey of a 60-year-old female grappling with chronic liver disease, initially diagnosed with hepatic encephalopathy (HE). Despite initial treatment with lactulose and rifaximin, her neurological symptoms worsened, leading to the identification of concurrent acquired hepatocerebral degeneration (AHD). This condition is characterised by cognitive decline, movement disorders and distinctive imaging abnormalities. The discussion highlights the challenges in distinguishing AHD from HE, underscoring the sophisticated diagnostic and management strategies required for such intricate cases in the realm of chronic liver disease.

• Anti-LGI1 autoimmune encephalitis in a patient with rheumatoid arthritis and MGUS Lamprini Bounou, Aimilios Kaklamanos, Theodoros Androutsakos, Elissavet Kemanetzoglou, Ioanna Moustaka , Athanasios Protogerou, Athina Euthimiou Views: 25 PDF: 19 HTML: 6

  Background: Anti-leucine-rich glioma inactivated 1 limbic encephalitis (anti-LGI1 LE) is one of the most frequent autoimmune encephalitis, commonly coexisting with other autoimmune diseases. Rheumatoid arthritis (RA) and monoclonal gammopathy of unknown significance (MGUS) are commonly associated with autoimmune phenomena. However, neither RA nor MGUS have been described in the literature to date as coexisting with anti-LGI1 LE.
  Case description: We present the case of anti-LGI1 LE in a male patient with rheumatoid arthritis, who was also found to have an MGUS. The patient was initially treated with corticosteroids and IV immunoglobulin. After a mild relapse, his treatment was complemented with rituximab, resulting in complete regression of the disease symptoms.
  Conclusions: Our report provides evidence for the coexistence of anti-LGI1 LE with RA and/or MGUS, thus extending the differential diagnosis of patients suffering with these disease entities that present with neuropsychiatric symptoms suggestive of encephalitis. Moreover, this case raises challenges on the management of the coexistence of these diseases, given the lack of therapeutic guidelines and their potential interaction on a pathophysiological and a clinical level.

• The never-ending story of hyponatremia: a current problem to overcome Benedetta Marigliano, Luigi Scuro Views: 45 HTML: 7 PDF: 33

  Hyponatremia is a common complication in patients undergoing neurosurgery. If undiagnosed, it has a negative prognostic impact. The two dominant causes of refractory hyponatremia include syndrome of inappropriate ADH secretion (SIADH) and cerebral salt wasting syndrome (CSWS). Discrimination between the two types of disease is not always obvious. We present a case of undiagnosed chronic hyponatremia caused by CSWS after neurosurgery, which not only resulted in a longer hospital stay but also slowed the patient’s postoperative recovery. Meticulous clinical evaluation and the performance of appropriate laboratory tests are therefore essential not only for decisive treatment, but also for the establishment of comprehensive diagnostic algorithms that allow timely diagnosis and decisive therapy.

• Spider bite presenting as fever, macrophage activation syndrome and a skin ulcer Marco Fedele, Mariangela Antonelli, Egidio Carbone, Marco Di Stefano, Raffaele Manna, Giovanni Addolorato Views: 236 HTML: 13 PDF: 146

  Introduction: Fever of unknown origin (FUO) refers to a condition of prolonged increased body temperature, without identified causes. The most common cause of FUO worldwide are infections; arthropod bites (loxoscelism) should be considered in view of the spread of the fiddleback spider. Loxoscelism can present in a cutaneous form (a necrotic cutaneous ulcer) or in a systemic form with fever, haemolytic anaemia, rhabdomyolysis and, rarely, macrophage activation syndrome (MAS). For this suspicion, it is important to have actually seen the spider.
  Case description: A 71-year-old man was admitted to our department because of intermittent fever, arthralgia and a necrotic skin lesion on his right forearm that appeared after gardening. Laboratory tests were negative for infectious diseases, and several courses of antibiotics were administered empirically without clinical benefit. Whole-body computed tomography showed multiple colliquative lymphadenomegalies, the largest one in the right axilla, presumably of reactive significance. A shave biopsy of the necrotic lesion was performed: culture tests were negative and histological examination showed non-specific necrotic material, so a second skin and lymph node biopsy was performed. The patient developed MAS for which he received corticosteroid therapy with clinical/laboratory benefit. Cutaneous and systemic loxoscelism complicated by MAS was diagnosed. Subsequently, the second biopsy revealed morphological and immunophenotypic findings consistent with primary cutaneous anaplastic large cell lymphoma (PC-ALCL).
  Conclusions: Skin lesions and lymphadenomegalies of unknown origin should always be biopsied. It is very common to get indeterminate results, but this does not justify not repeating the procedure to avoid misdiagnosis.

• False-negative PET/CT scan with metastatic sebaceous carcinoma: an important diagnostic consideration Tong Ren, Jennifer Foster, Alex Wu, Alisher Hamidullah, Eric Sladek Views: 152 HTML: 21 PDF: 83

  Positron emission tomography (PET) has gained widespread acceptance as a valuable diagnostic tool for cancer. It is rare for a PET/CT scan to overlook the presence of metastatic disease. Sebaceous carcinoma is an uncommon malignant tumour that typically originates in the skin of the eyelid. In this case report, we present a unique case involving a metastatic sebaceous carcinoma that was not initially detected by a PET/CT scan in an 88-year-old female. Therefore, clinicians must maintain a heightened awareness of sebaceous carcinoma and exercise caution when making decisions solely based on PET scan results. It is crucial to recognise this potential limitation of PET scans in sebaceous carcinoma and consider further diagnostic approaches to ensure timely and accurate detection of sebaceous carcinoma.

• Syphilitic stomatitis: raising awareness on an often-overlooked presentation of secondary syphilis Henrique Atalaia-Barbacena, Catarina Isabel Lopes, Inês Matias Lopes, Patrícia Howell Monteiro Views: 230 HTML: 19 PDF: 160

  Syphilis, a disease caused by the bacteria Treponema pallidum, has a multitude of clinical manifestations and is classified into primary syphilis, secondary syphilis and tertiary syphilis, based on clinical presentations and the time elapsed since the primary infection. The secondary stage of the disease can affect multiple organs and systems, and some of these involvements may be general and non-specific, justifying its name as ‘the great imitator’. We present a case of a 30-year-old woman with a history of painful neck lymph nodes with progressive enlargement, persistent headache, weight loss, myalgia and alopecia. During investigations, stomatitis on the dorsal face of the tongue developed. A secondary study showed serum positive for rapid plasma reagin (RPR) and T. pallidum haemagglutination (TPHA), negative RPR in cerebrospinal fluid and normal MRI, thus the diagnosis of secondary syphilis was made. The patient was treated with a single dose of penicillin with complete resolution of symptoms. The case highlights the need for an exhaustive clinical examination, especially in cases presenting with non-specific and general symptoms, and raises awareness for this disease which has increased its prevalence in the last decades.

• Going back to basics: remembering touch in the digital era Beatriz R. Sousa, Diogo Faustino, Rita Pocinho Views: 155 HTML: 8 PDF: 97

  Internal medicine is the specialty with the most semiological training and it is taught that the combination of a complete clinical history with a thorough physical examination allows for a diagnosis to be reached in the majority of cases. We present a clinical case where an incomplete physical examination interfered with the course of hospitalisation. In a growing technological world where complementary diagnostic tests often allow us to see what is impossible to the eye, the physical examination is often neglected.

• A fast-growing myxoma of the left atrium Jakub Benko, Martin Jozef Péč, Marek Cingel, Jakub Jurica, Tomáš Bolek, Marián Mokáň, Matej Samoš Views: 215 HTML: 12 PDF: 156

  Introduction: Myxoma of the left atrium is a less typical cause of mitral obstruction. If this develops, a flash pulmonary oedema can be the first manifestation.
  Case description: We present a case report of a 50-year-old woman who was admitted to our internal department because of dyspnoea. The patient overcame a stroke three years before the index hospitalisation with a negative transthoracic echocardiography. By anamnesis and physical examination, an exacerbation of COPD was assumed, and the patient was treated accordingly. As the patient showed numerous risk factors for heart failure with preserved ejection fraction, transthoracic echocardiography was performed. A large polypoid mass was found in the left atrium, which caused severe mitral obstruction. Subsequent transoesophageal echocardiography confirmed this finding. The patient underwent urgent cardiac surgery, and the tumour was successfully resected. A histological examination revealed a cardiac myxoma. After the cardiac surgery the patient felt well, and no recurrence of the tumour occurred.
  Conclusions: We provide a case report of a fast-growing myxoma that was incidentally found in a patient with dyspnoea. We highlight the fast growth rate of the tumour and the potential for misdiagnosed signs of pulmonary oedema caused by mitral obstruction.