LATEST ONLINE
  • Sherif Monib, Piyush Mahapatra, Hany Fayez

    Gallbladders have been reported in various ectopic locations.An intrahepatic gallbladder is one where the gallbladder lies within the liver parenchyma or has a subcapsular location along the anterior inferior right lobe of the liver. Intrahepatic gallbladders can have impaired function leading to the formation of gallbladder stones. We present the case of a 57-year-old man who was found to have an intrahepatic gallbladder which was not detected before a retrograde open cholecystectomy was carried out without intra-operative or postoperative complications. Awareness of ectopic gallbladdersand their recognition allows proper intra-operative planning.

  • Javier Moreno Díaz, Jose Miguel García Bruñén, Rocío Bermúdez Cameo, Ana Martínez González

    We present the case of a 62-year-old man with a 4-year history of pruritus and erythroderma. The patient had been taking metformin for 5 years, so after contact allergies, contact with toxic products, and autoimmune diseases were ruled out, the condition was treated as erythroderma secondary to metformin. A skin biopsy subsequently confirmed the diagnosis and lichenification of some areas of the patient's skin.

  • Sofia Gomes Brazao, Jorge Crespo, Armando Carvalho

    Introduction:Behçet’s disease (BD) is a chronic systemic condition characterized by recurrent oral and genital ulcers, neurological and vascular manifestations, ocular and skin lesions, and a positive pathergy test. Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome is rare and consists of features of BD together with relapsing polychondritis. The treatment of this syndrome is similar that of BD and depends on disease expression and symptoms.
    Case Report: We report the case of a 50-year-old man diagnosed with BD with relapsing polychondritis (MAGIC syndrome) which had evolved over approximately 35 years, with exuberant and frequent oral and genital ulcers. Various treatments were unsuccessful and had adverse effects. Lenalidomide was initiated at a dose of 5 mg per day with remission of oral and genital ulcers and no haematological or adverse effects.
    Conclusion: BD is a complex disorder with a variety of presentations. Its treatment can be challenging but sometimes off-label drugs, like lenalidomide, can be effective.

  • Rita de Sousa Gameiro, Rodolfo Gomes, Vanda Jorge, Bárbara Sousa Picado, Fernando Martos Gonçalves, José Lomelino Araújo

    Disseminated intravascular coagulation (DIC) is an acquired syndrome characterized by the widespread activation of coagulation. It can present as an acute life-threatening emergency or as a chronic process. Mortality is highly dependent on the reversibility of the aetiology and degree of coagulation impairment, so treatment of the underlying cause is vital. The authors present the case of a 57-year-old man whose inaugural presentation of lung cancer was chronic DIC, characterized by three thrombotic events, followed by acute DIC, culminating in death. Metastatic lung cancer was diagnosed only after death.

  • Najia Mahmood, Jahanzaib Hamid, Faramarz Khan, Muhammad Khurram, Mubashar Alam

    Objective:The objective of this case report is to emphasize the importance of considering uncommon conditions like Fahr’s disease in the differential diagnosis of seizures and cognitive impairment, especially in patients with a history of thyroidectomy.
    Materials and Methods: A 56-year-old woman who had undergone subtotal thyroidectomy 25 years previously presented with movement disorder and cognitive impairment secondary to hypoparathyroidism. A CT scan of the brain showed pathognomonic bilateral calcification in the basal ganglia, thalamus and cerebellar nuclei.
    Result: The patient was diagnosed with Fahr’s disease caused by post-thyroidectomy hypoparathyroidism and successfully managed with oral calcium, carbidopa/levodopa and haloperidol.
    Conclusion: We recommend the routine use of CT scanning in the long-term follow-up of post-thyroidectomy patients.

  • Maria Mendonça-Sanches, Ines Rolim, Joaninha Costa-Rosa, Gabriela Caldas, Cecilia Moura

    Langerhans cell histiocytosis (LCH) is a multisystemic disorder that results from the clonal proliferation of immunophenotypically and functionally immature Langerhans cells (LC). The detection of the V600E mutation in the BRAF oncogene in LCH biopsy specimens supports previous evidence that LCH is a neoplastic disorder. This mutation is present in other cutaneous lesions including malignant melanoma and benign nevi. Single case reports of a correlation between LCH and the appearance of eruptive nevi limited to the inguinal folds after chemotherapy have previously been described in the literature. This suggested that LCH could be an additional cause of eruptive melanocytic nevi, with a specific distribution mimicking that of LCH cutaneous lesions. We present the case of a 6-year-old boy, previously treated with chemotherapy for Langerhans cell histiocytosis, with disseminated junctional nevi. Although this co-occurrence may be coincidental, the skin involvement is distinct from other previously reported clinical cases. It would be interesting to evaluate whether the BRAF mutation described in LCH cells might in fact support a genetic background for the development of nevi in these patients.

  • Christine Newman, Stephen Connolly, Owen MacEneaney, Conor O'Keane, Siobhan E McQuaid

    Background: Klinefelter syndrome (KS) is the most common sex-chromosomal disorder in males. Frequently under-recognized, it occurs in 1 in 500–600 male births. It is caused by the inheritance of at least one additional X chromosome from either parent. Patients often have uncommon or atypical malignancies.
    Patient: We describe the case of a 35-year-old man with 47XXY KS and previous cryptorchidism, presenting with a painful testicular mass. Histology confirmed Leydig cell hyperplasia.
    Discussion: Cryptorchidism is an established risk factor for testicular tumours and occurs six times more commonly in KS than in the general population. Despite this, large epidemiological studies have shown a reduced burden of testicular cancer in these patients. The presentation of a hypoechoic lesion on ultrasound will prompt consideration of testicular tumours, however orchalgia represents an atypical presentation. In patients with KS, Leydig cell hyperplasia is a much more common entity and should be considered early in the differential diagnosis.

  • Nuno Zarcos Palma, Mariana da Cruz, Gisela Evaristo Vasconcelos, Vitor Fagundes, Lindora Pires, Mari Mesquita

    Heyde’s syndrome is a form of acquired von Willebrand syndrome that consists of bleeding from intestinal angiodysplasia in the presence of aortic stenosis (AS). An association with obstructive hypertrophic cardiomyopathy, rather than AS, by a similar mechanism has also been described. We report the case of a 78-year-old woman with chronic anaemia and hypertrophic obstructive cardiomyopathy in whom intestinal angiodysplasia with active bleeding was identified by an unconventional method. In this case, the authors describe a different approach to reach the correct diagnosis.

  • Omar Cárdenas, Enrique Gomez, Mariana Marcín, Adib Jorge de Sarachaga, Verónica Sánchez, Juan Manuel Calleja

    Background: Internuclear ophthalmoplegia (INO) is an eye movement disorder caused by a lesion in the medial longitudinal fasciculus (MLF) located in the midbrain. Adduction paralysis of both eyes and bilateral abduction nystagmus are the main features of INO[1].
    Case presentation: A 29-year-old Hispanic woman was admitted to the emergency department complaining of an intense holocranial headache lasting 9 days, associated with nausea and vomiting. She was discharged home with resolution of the headache but persistence of symptoms. However, she subsequently developed horizontal diplopia and gait abnormalities. She was readmitted to hospital because of anomalous eye movements and conjugate gaze palsy, manifested as bilateral INO. Magnetic resonance angiography (MRA) findings were consistent with dissection of the left V4 vertebral artery with multiple brain infarcts in the superior cerebellar artery territory, comprising both MLF tracts.
    Conclusions: In young adults, bilateral INO is normally caused by demyelinating disease. In other patients, common causes include trauma, infections and autoimmune diseases with neurological symptoms. Vascular disease is implicated in over a third of cases.

  • Margarida Viana Coelho, Domingos Sousa, Sergio Antunes da Silva, Rui Marques Osorio, Rita Martins Fernandes, Ana Isabel Rodrigues

    Salivary gland tumours are a group of neoplasms with considerable heterogeneity regarding their histology and biological behaviour. Warthin tumour (WT) is the second most common benign parotid tumour. Options for tissue diagnosis include fine needle aspiration (FNA) and ultrasound-guided core needle biopsy. Complications related to FNA are rare. We present the case of a 49-year-old man admitted with parotitis after FNA and discuss management and an alternative investigative approach when WT is strongly suspected.

  • Eilis McCarthy, Erik McClain

    Methamphetamine is a substance of abuse that is most commonly smoked. Both regular and non-regular use can cause toxic injury to the lung parenchyma, the signs and symptoms of which are non-specific. Clinical scenarios include non-cardiac pulmonary oedema, acute respiratory distress syndrome, alveolar haemorrhage, pneumonia and pneumoconiosis. As radiological imaging is often non-specific, a positive history of methamphetamine use is the only way to reach a definite diagnosis. The use of methamphetamine is now increasing in Europe, so it is important as physicians to be aware of this differential diagnosis in patients in respiratory distress with risk factors for illicit drug use.

  • Bárbara Kong Cardoso, Marta Martins, Sofia Martins Farinha, Regina Viseu, Elza Tomaz, Filipe Inácio

    Cutaneous delayed reactions to antihypertensive drugs have been described in a limited number of case reports but the mechanisms remain mostly unknown. We report the case of a 60-year-old female patient with a 3-week history of an itchy erythematous maculopapular eruption. Although the patient was polymedicated, irbesartan was the most likely culprit. Patch tests and a lymphocyte transformation test to irbesartan were both positive, which was useful for diagnosis and suggested an immunological reaction. No new lesions appeared after irbesartan was stopped or after the introduction of candesartan. Despite its similar chemical structure, candesartan may be tried in patients allergic to irbesartan.