Rhabdomyosarcoma (RMS) represents a rare subset of mesodermal malignancies characterized by skeletal muscle differentiation, exhibiting a notably low incidence among adults and demonstrating inferior prognosis compared to pediatric counterparts. The 5- and 10-year overall survival rates were determined to be 30% and 18%, respectively, with a median age of onset at 46.5 years and median overall survival duration of 2.3 years. Current challenges in RMS research encompass optimizing local control, managing systemic disease, refining risk stratification methods, and elucidating disease progression patterns. While aggressive therapeutic interventions remain imperative, novel and individualized treatment modalities are imperative to enhance long-term outcomes. This research reported an elderly female patient presenting persistent lower back pain, persisting over several months, despite seeking medical consultation from multiple sources. Subsequent diagnostic investigations confirmed the diagnosis of rhabdomyosarcoma, denoting the relatively rare etiology of said initial symptoms. Hence, it is imperative to reconsider many differential diagnoses in the case of ischialgia.
Category Archives: Case Report
Primary intraosseous mucoepidermoid carcinoma – A case report of 2 rare occurrences in the maxilla
Introduction: Primary intraosseous mucoepidermoid carcinoma is a rare malignancy originating from minor or ectopic salivary gland tissue within the jawbones, presenting diagnostic challenges, especially in young patients. This article is aimed at oral and maxillofacial radiologists, surgeons, oncologists, and dental practitioners who encounter such cases, highlighting the importance of early recognition for effective treatment planning.
Case Presentation: Two cases of primary intraosseous mucoepidermoid carcinoma in the maxilla are presented. The first involves a 27-year-old female with pain and swelling in the left upper jaw. Cone-beam computed tomography showed a multicystic hypodense lesion with bicortical expansion and palatal perforation. The second case features a 15-year-old with similar radiographic findings but with additional lymph node involvement, indicating a more aggressive disease. The first case was localized and painful, while the second was painless, with the lesion extending into the maxillary sinus. Diagnoses were confirmed via fine needle aspiration cytology and histopathology, followed by surgical resection.
Conclusion: These cases highlight the need for clinicians to consider primary intraosseous mucoepidermoid carcinoma as a differential diagnosis for jaw swellings across all ages. Advanced imaging, particularly cone-beam computed tomography, is crucial for precise diagnosis and early intervention, leading to improved patient outcomes.
Confounding elements in the recognition of severe hyperkalemia. A case report
Introduction: Severe hyperkalemia is a life-threatening condition that demands a rapid diagnosis and prompt treatment. The following case report highlights the possible complexity in the clinical presentation of this condition and the importance of a thorough assessment of patients that do not provide the classical clinical findings.
Case presentation: A 40-year-old male called the emergency services for low blood pressure and an overall altered state. Upon arrival, the prehospital team found a patient with shock signs that was complaining of feeling unwell and reported profuse diarrhea starting three days prior. Additionally, the patient also had muscle weakness and occasional spastic movements of the limbs and face. During the assessment, the patient went suddenly into cardiac arrest, life support (including the management of hyperkalemia) was immediately started and return of spontaneous circulation was soon obtained. Point-of-care blood testing established the diagnosis of severe hyperkalemia. Definitive in-hospital care consisted mainly of fluid resuscitation, circulatory support, hemodialysis and antimicrobial therapy and the patient was discharged 16 days later with no neurological impairment.
Conclusions: Although atypical, hyperkalemia can be caused by diarrhea in certain circumstances and its clinical manifestations can be misleading. Thus, keeping a broad clinical perspective and early use of blood tests can ensure proper treatment of life-threatening hyperkalemia.
Allergic contact dermatitis and periorbital oedema after permanent eyelash dye
Allergic contact dermatitis is a rare cause of emergency room visits. However, it can progress to life-threatening conditions such as urticaria and angioedema. In this report, we describe a case that developed severe allergic contact dermatitis around the eye applying an eyelash dye containing p-Phenylenediamine. A 21-year-old female patient was admitted to the emergency department with the complaint of swelling and redness around both eyes. Swelling and redness started 3 days ago with permanent eyelash dye (containing p-Phenylenediamine) application in the beauty center. Clinically, periocular edema and rash was suspected to be an allergic reaction to a substance contained in the eyelash dye. For allergic contact dermatitis, 40 mg methylprednisolone, 45.5 mg pheniramine maleate, IV bolus was administered. The vesicular rash was thought to be a herpes lesion. She was discharged from the emergency department, with an initial dose of 16 mg methyl prednisolone (discontinued by reducing the dose), 500 mg oral valacyclovir twice a day, mupirocin cream on twice a day and oral levocetrizine 5 mg once daily. It was observed that the patient’s lesions and redness regressed after 2 weeks. The effects of cosmetic products, which are the agents that come into contact with the skin most often, may differ individually. Agents included in cosmetic products, such as in our case, may cause severe contact dermatitis that requires treatment. Beauticians should also be informed about PPD. Patients who have had allergic reactions due to the use of PPD-containing dyes should use PPD-free cosmetic products.
Merkel cell carcinoma- particularities and morphological aspect of a unique and rare entity
Introduction: Merkel cell carcinoma is a very rare malignant neoplasm which presents high aggressivity, high recurrence rate and has metastatic potential. Our purpose is to present the histological and immunohistochemical particularities of Merkel Cell Carcinoma while reviewing potential differential diagnoses and challenges that we can encounter in daily practice.
Case presentation: We present the case of an 86-year-old female patient who presented with a nodular tumour located in the left forearm, raising suspicion of a soft tissue tumour. The histological appearance of this unique type of cancer is highlighted on the Haematoxylin-eosin stain as a solid tumour composed of nests and chords of monomorphic cells. The nuclei of these tumoral cells appear characteristically as enlarged with dispersed chromatin. The immunohistochemical reactions have been performed and it was observed that the tumoral cells exhibited positivity for synaptophysin, CD56, NSE, EMA, as well as a “dot-like” expression for CK20. These histopathological and immunohistochemical features were consistent with a diagnosis of MCC, stage pT3, based on the assessment of tumour size.
Conclusions: Sometimes, differentiating this tumour from other primary malignant neoplasms of the skin or even cutaneous metastases can be difficult. Immunohistochemistry remains the most important tool of diagnosis, especially for differentiating this neoplasm from metastatic neuroendocrine tumours that can affect the skin.
Co-infection with Mycobacterium tuberculosis and Mycobacterium avium in an HIV-positive patient – Case Report
Introduction: The association between Mycobacterium tuberculosis and the Human Immunodeficiency Virus can accelerate the deterioration of immunological functions. The risks are even more accentuated in the situation of a Non-tuberculous Mycobacterium and Mycobacterium tuberculosis co-infection.
Case presentation: We present the case of a 59-year-old male patient, who was admitted at the hospital with non-specific symptoms. Further investigations reveal a remarkable particularity about the case: The infection with Mycobacterium tuberculosis was urogenital, whereas the one with Non-tuberculous mycobacteria was pulmonary.
Conclusion: Both Mycobacterium tuberculosis and Non-tuberculous strains can exist within the same infection, posing great difficulties for diagnosis, as well as the treatment scheme.
Oligosymptomatic form of Melkersson-Rosenthal Syndrome possibly triggered by COVID-19 infection: A case report
Introduction: Melkersson Rosenthal syndrome (MRS) is a disease of multifactorial origin typically presented with a triad of symptoms including peripheral facial nerve paralysis, plicated tongue and orofacial edema. Diagnosing MRS requires the exclusion of other granulomatous diseases and the correlation of clinical with histopathological finding.
Case presentation: We present the case of a 56-year-old female with a four-month history of lower lip and right mandible angle swelling together with a plicated tongue that appeared during COVID-19 infection. The patient was successfully treated with intralesional Triamcinolone Acetonide at a dose of 40 mg.
Conclusion: The presented case is specific by its late onset since the patient experienced their first symptoms in fifties, which differs from the majority of cases where the diagnosis is usually established in young adults. Infectious factors are established as possible etiologic factors of MRS, but few cases are described to be triggered or worsened by COVID-19 infection.
Solid pseudopapillary neoplasm – Management of an extremely rare case of pancreatic tumor in a young patient
Introduction: Franz Tumor or the solid pseudopapillary neoplasm is a very rare form of pancreatic cancer, that can be held responsible for approximately 0.2-2% of the exocrine pancreatic tumors.
Case report: We report a case of a 20-year-old woman, without any comorbidities, admitted to our department accusing mild abdominal pain at the level of the left hypochondrium and epigastrium, that started approximately half a year ago. Computed tomography and magnetic resonance imaging showed a voluminous encapsulated tumor, with mixed structure, apparently adherent to the tail of the pancreas, left kidney and adrenal gland, though being unable to certainly establish its visceral origin.
Management and results: After analyzing all aspects of the case, we decide in favor of a left subcostal laparotomy approach; the intraoperative aspect is that of a relatively well delineated mass, adherent at the level of the pancreatic tail, therefore a complete excision of the tumor alongside with the pancreatic tissue that came in contact with it was performed. The pathological analysis reveals an encapsulated tumor with solid and pseudopapillary structure, with hemorrhagic and cystic degeneration regions; therefore, we reach the following final diagnosis: pT3 stage pseudopapillary-solid pancreatic neoplasm.
Conclusions: In spite of its malignant behavior and impressive tumor volume, the surgical intervention was curative with favorable prognosis.
Gallbladder metastasis from occult lobular breast
carcinoma: A case report
Introduction: Bones, lungs, brain and liver are the most common metastatic sites of breast carcinoma, although invasive lobular carcinoma can give metastases to less common sites, such as the gastrointestinal tract and the female genital tract.
Case presentation: We present the case of a 57-year-old female with colic abdominal pain that was sent to surgery for cholecystectomy. Histopathology revealed a poorly cohesive individual or in single file neoplastic cells infiltrating all layers of the gallbladder. Immunohistochemistry revealed these cells to be CK 116, CK7, GCDFP-15, ER and PR positive, and CK20, HER-2, S-100 and E-cadherin negative. PET/CT showed numerous lytic bone lesions, but ultrasound, mammography, MRI and PET/CT revealed no breast mass.
Conclusion: Although rare and poorly understood, metastases of invasive lobular carcinoma to gallbladder do exist in a minor percentage of patients, presenting usually as exacerbated cholecystitis. The problem are silent cases and patients with no history of breast carcinoma. This case is unique in that even after the diagnosis of metastatic lobular breast carcinoma to the gallbladder, the primary tumour of the breast was not detected.
Marcus Gunn jaw-winking syndrome: A case report
Marcus Gunn jaw wink phenomenon or Trigeminal oculomotor synkinesis, is a congenital disorder in which the upper lid moves synkinetically in response to jaw movement during chewing. The term synkinesis describes the simultaneous movement or a coordinated sequence of movements of muscles, which are supplied by different nerves or by separate peripheral branches of the same nerve. Although it rarely manifests bilaterally, it is typically unilateral. In 1883, Dr Robert Marcus Gunn, a Scottish Ophthalmologist described a 15-year-old girl with a peculiar type of congenital ptosis that included an associated winking motion of the affected eyelid on the movement of the jaw. It is known to affect both men and women equally. This phenomenon has been reported to be a similar phenomenon affecting 2-13% of all cases of congenital ptosis. It can be congenital or acquired, for example through trauma. The Congenital Marcus Gunn jaw wink phenomenon is thought to arise from the connection between the branch of the trigeminal nerve (responsible for chewing) supplying the middle or lateral pterygoid muscle and the branch of the oculomotor nerve supplying the upper superior levator ocular defect. Here we present a case report of Marcus Gunn’s Jaw-Winking Synkinesis in congenital ptosis.