Articles of International Journal of Case Reports

A rare case of Rubinstein-Taybi Syndrome and gynecological malignancy

Rubinstein-Taybi syndrome (RSTS) is a congenital syndrome most associated with mutations on chromosome 16p13.3 that can result in both benign and malignant neurologic and hematologic neoplasms of various primary origins. We present the case of a 39-year old female with RSTS who presented with severe abdominal and pelvic pain. Abdominal and pelvic imaging revealed multiple masses involving the uterus, liver and spleen concerning for malignancy. Biopsies from the endometrium and cervix confirmed this as a poorly differentiated, widely invasive squamous cell carcinoma. This represents the first case of primary squamous cell carcinoma of gynecologic origin in a patient with Rubinstein-Taybi syndrome. This case aims to raise awareness of the gynecological malignancy in patients with RSTS as well as serves as a reminder to clinicians to have a broad differential diagnosis in all patients which may help lead to early recognition of pathology.

Successful experiments with Salvia officinalis and Salvia microphylla and COVID19

This paper presents results of the author on Salvia officinalis and Salvia microphylla and COVID19. The results were achieved with dried Salvia officinalis leaves and with fresh Salvia microphylla leaves. The properties of fresh leaves appear with the taste as being much richer in antiviral agents, drying reduces the antiviral activity. The experiments presented in this paper are on the author himself, do not involve biosampling to confirm in laboratory but existing data in the published literature confirms the excellent efficiency of Salvia officinalis against COVID19 and a large array of other diseases. The self-experiments were very successful against COVID19, opening a path for natural treatment.

Epithelial-myoepithelial carcinoma of floor of mouth: A case report of double clear cell variant with immunohistochemical correlation

Epithelial-myoepithelial carcinoma (EMC) is a rare biphasic low-grade malignancy accounting for only 0.5% of all salivary gland tumors. Commonly, EMC affects parotid gland (70%) and rarely affecting other salivary glands. Clearing of both, epithelial and myoepithelial cell types, is rare and gives an impression of a monocellular neoplasm. Case report: A 42-year-old male reported to Oral and Maxillofacial Surgery Department in Faculty of Oral and Dental Medicine, Misr International University with a painless growth in the floor of mouth since 5 years. The soft tissue window of computerized tomography (CT) revealed a well-circumscribed swelling in the sublingual space. The provisional diagnosis was pleomorphic adenoma. Results: The histopathological examination showed solid sheets of rounded to polyhedral clear cells forming lobes and lobules separated by connective tissue mucoid septa. A thin fibrous capsule, invaded with some tumor cells was also present. The presented pattern of clear cells together with the encapsulation of the tumor provides an impression of clear cell variant of monocellular neoplasm. Conclusion: The presented case relates to an epithelial-myoepithelial carcinoma originating from the sublingual salivary gland, which is a rare site for this lesion. Based on immunohistochemical staining, differentiation between the double clear cell types was confirmed using S-100 protein and SMA for the myoepithelial nature of the outer cells while the epithelial nature of the inner cells was confirmed by CK-19 and EMA. Thus, the diagnosis of double clear cell variant of EMC was given.

Hormone Receptor Expression in Non Cancer Breast Lesions

Background Estrogen receptors (ER), Progesterone receptors (PR) expression is seen in non cancer breast lesions like juvenile fibroadenomas and phyllodes tumour. Materials and Methods This is a prospective study on a study population that comprised fibroadenomas and phyllodes tumor. Results While a few studies indicate that ER/PR expression correlates with a more benign outcome ,we did not see the same in our population. Ki 67 proliferation was greater in the stromal component of phyllodes tumours,compared to fibroadenomas.

Pseudo-endocarditis secondary to ruptured posteromedial papillary muscle with anatomical variation: A Case Report

Myocardial infarction is the leading cause of papillary muscle rupture. This complication occurs in up to 5% of cases post MI and although rare, it constitutes a cardiac emergency if left untreated. On this basis, a 59-year-old male presented with low-grade fever and atypical chest pain with raised inflammatory markers and troponin levels. He was treated for infective endocarditis after echocardiography revealed a mass on the mitral valve, which was presumed to be a mitral valve vegetation and so he completed a 6-weeks course of antibiotics followed by elective mitral valve replacement surgery. During surgery, it was discovered that there was no endocarditis. Instead an unusually small muscle head of one of the posteromedial papillary muscle groups had ruptured secondary to an inferior myocardial infarction. This ruptured muscle head was highly mobile and mimicked a mitral valve vegetation. The mitral valve was successfully repaired, and the right coronary artery grafted. He made a full recovery but developed new-onset atrial fibrillation for which he is awaiting elective cardioversion. One should have a high index of suspicion for diagnosing papillary muscle rupture as it may mimic valvular vegetation on echocardiography, especially if the papillary muscle involved is an anatomical variant.

Secondary hyperparathyroidism and symptomatic hypercalcemia: overlooked complications of chronic liver disease

A 71-year-old female with biopsy-proven liver cirrhosis was brought to the ER due to confusion for 5 days. She was diagnosed with acute decompensated liver disease and hepatic encephalopathy. Investigations also revealed PTH-dependent hypercalcemia. Both of these entities could be causing her symptoms. Neck ultrasound did not reveal any parathyroid lesions. Alteration in mental status persisted even after the management and resolution of hepatic encephalopathy. Symptomatic resolution occurred after normalization of her calcium levels which required normal saline, cinacalcet as well as calcitonin over the course of 7 days. Hypercalcemia secondary to chronic liver disease should be considered in the differential diagnosis of patients with liver cirrhosis presenting with an altered mental status. Hypercalcemia of chronic liver disease is not always transient and managed with normal saline as previously reported; It could necessitate more aggressive therapy with calcitonin and cinacalcet as reported in this case.

Miller Fisher syndrome associated with respiratory failure

Miller Fischer syndrome (MFS) is a rare clinical variant of Guillain-Barre syndrome. The diagnosis suspected primarily on clinical trial of areflexia, ophtalmoplegia and ataxia, is confirmed by the mandatory presence of antiganglioside antibodies (anti GQ1b). An acute onset is typical of MFS, beginning with neurological symptoms following a respiratory or digestive infectious illness. The therapeutic options are either the plasmapheresis or the administration of intravenous immunoglobulin (IVIG). Although rare, in certain cases the patients present with respiratory symptoms needing intensive care. We report the case report of a patient which presented with the classical triad of MFS but also with rapid progressive respiratory failure due to bilateral vocal cords palsy and general muscle weakness. He needed respiratory mechanical support. The patient received a treatment by IVIG without any improvement in symptomatology. Eventually he completely recovered and he was discharged from the hospital 3 month later.