Category Archives: Case Report

Merkel cell carcinoma- particularities and morphological aspect of a unique and rare entity

DOI: 10.2478/amma-2024-0008

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.

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Co-infection with Mycobacterium tuberculosis and Mycobacterium avium in an HIV-positive patient – Case Report

DOI: 10.2478/amma-2024-0006

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.

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Oligosymptomatic form of Melkersson-Rosenthal Syndrome possibly triggered by COVID-19 infection: A case report

DOI: 10.2478/amma-2024-0004

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.

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Solid pseudopapillary neoplasm – Management of an extremely rare case of pancreatic tumor in a young patient

DOI: 10.2478/amma-2023-0044

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.

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Gallbladder metastasis from occult lobular breast
carcinoma: A case report

DOI: 10.2478/amma-2023-0041

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.

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Marcus Gunn jaw-winking syndrome: A case report

DOI: 10.2478/amma-2023-0040

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.

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Diagnostic difficulties in a very rare case of mycoplasma pneumoniae uveitis

DOI: 10.2478/amma-2023-0035

Introduction: Mycoplasma pneumoniae is known as a common cause of respiratory tract infections, especially in children. Regarding extrapulmonary manifestations, many dysfunctions have been linked to circulating IgM antibodies, including eye diseases and disorders. In this report, we aim to highlight the importance of considering Mycoplasma pneumoniae a potential etiological agent that can cause significant eye structures inflammation. Case presentation: We present a case of a 22-year-old male patient who arrived at the Emergency Department complaining of visual acuity decrement. Fundoscopic examination outlined a pale optic nerve, covered by pre-papillary infiltrates and peripheric inflammatory infiltrates, accompanied by signs of vasculitis. Investigations were performed and a multidisciplinary assessment was conducted. General antibiotic and antimycotic treatment and topical non-steroidal anti-inflammatory drops were administrated but his symptoms were aggravating, although it was continuously upgraded. Antibodies for Mycoplasma pneumoniae were determined with positive IgM and macrolide antibiotherapy was administrated, with favorable evolution. Conclusions: Mycoplasma pneumoniae should not be excluded as a possible cause of severe ocular inflammations, even in asymptomatic patients. The patient’s management should include multidisciplinary assessment for an easier diagnosis in cases of uncertainty.

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Adrenocortical carcinoma: A tumor with poor answer to classic chemotherapy

DOI: 10.2478/amma-2023-0039

Introduction: Adrenocortical carcinoma (ACC) represents a rare endocrine malignancy being the second most aggressive endocrine cancer after anaplastic thyroid cancer. [1]. While most of them arise sporadically, up to 15% of adult ACC patients are related to germline mutations associated with familial cancer syndromes.[1,2]. Current treatment strategies include surgery as well as systemic therapy with mitotane and chemotherapy.
Case report: A 60-year-old female patient with a family history of colon cancer, multinodular goiter, hypothyroidism treated with substitutive therapy, uterine fibroids, and hypertension, was diagnosed with adrenocortical carcinoma. No distant metastasis were present at the moment of diagnosis so an adrenalectomy was performed. Due to postoperative complications, a total nephrectomy was also needed. Adjuvant Mitotane treatment was given. A CT exam performed 5 months after the resection showed multiple pulmonary metastasis, a liver nodule and peritoneal carcinomatosis. The standard first-line chemotherapy of choice was Carboplatin and Etoposide. After completing 3 cycles of chemotherapy the imaging reassessment show the progression of liver and peritoneal lesions and the quasi-complete regression of lung lesions. Currently, the Mitotate treatment was stopped due to severe adverse reactions.
Conclusions: Adrenocortical carcinoma is a rare endocrine malignancy with a poor prognosis. The recruitment of ACC patients for new clinical trials to investigate new treatment strategies is needed because currently, no significant therapeutic breakthrough is emerging.

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Renal Ewing sarcoma with extensive neuroectodermal differentiation: Case report and literature review

DOI: 10.2478/amma-2023-0034

Ewing sarcoma with renal localization is one of the rarest members of the Ewing sarcoma family with less than 200 cases reported in the Medline database. Considering the fact that the majority of data published on the Ewing sarcoma with neuroectodermal differentiation is obtained through a few case reports and case series, it becomes understandable why we currently have no universally accepted treatment regimens.
Case summary: A 33-year-old patient presented to the Emergency Department with right lumbar pain following a mild trauma and an episode of macroscopic hematuria. Physical examination confirmed hematuria and flank pain and a palpable flank mass was identified. MRI showed a cystic lesion of the upper pole of the right kidney of 127/110/123 mm. After prior agreement of the multidisciplinary team, a 3D laparoscopic right radical nephrectomy was done. The histopathological diagnosis revealed an Ewing sarcoma with extensive neuroectodermal differentiation staged as pT3N1M0L1V2R0. Despite swift implementation of the chemotherapy protocol, the progression of the disease was quickly noted. Currently, one year after diagnosis, the disease is still progressing despite the chemotherapy treatment, the patient being a third line chemotherapy candidate. As renal localization of Ewing sarcoma with extensive neuroectodermal differentiation is extremely rare, multimodal treatment strategies must be established by a multidisciplinary team. Despite its aggressive biological behavior, a proper therapeutic management might increase patient life expectancy.

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Complicated idiopathic portal and mesenteric venous thrombosis: A case report

DOI: 10.2478/amma-2023-0020

Introduction: Acute mesenteric ischemia is a life-threatening condition that can lead to intestinal ischemia, bowel obstruction and peritonitis. It is predominantly caused by arterial occlusion (acute arterial thromboembolism or thrombosis); however, it can rarely be secondary to mesenteric or portal vein thrombosis.
Case presentation: We present the case of a 61-year-old man admitted to the emergency service for intense abdominal pain and lack of bowel movement. A computed tomography angiography (CTA) was performed, revealing portal and mesenteric vein thrombosis. Anticoagulant treatment was established. To appraise the extension of the necrotic tissue, the surgical team performed exploratory laparotomy, followed by segmental enterectomy. The following day, the patient complained of acute pain in the left lower limb and a CTA was performed indicating acute ischemic phenomenon. The surgical team performed thrombectomy using a Fogarty catheter. The ischemic enteral region extended, and the patient developed an enterocutaneous fistula that required surgical reintervention (enterectomy and right hemicolectomy).
Conclusion: Conservative treatment with anticoagulants is the first line treatment, followed by surgical treatment only in case of complications. Even though venous thrombosis is an exceptional cause of intestinal infarction, it can be the cause of life-threatening complications such as necrosis, peritonitis and septic shock.

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