Category Archives: Case Report

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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Oral manifestations of amyloidosis in a multiple
myeloma patient: A case report

DOI: 10.2478/amma-2023-0019

The term amyloidosis refers to a wide range of diseases in which amorphous, extracellular, eosinophilic proteinaceous deposits form at various locations. In this article, we describe a case of amyloidosis with multiple myeloma in which the oral symptoms of the disease served as the main diagnostic clues. A male patient in his early 60s who had multiple tongue swellings presented to our department. Following an incisional biopsy, histological analysis revealed the presence of eosinophilic, amorphous hyaline-like material that was positive for Congo red staining and was indicative of amyloidosis. The presence of abnormal plasma cells in the patient’s bone marrow aspiration after the biopsy was done was suggestive of multiple myeloma. The patient is currently undergoing the CyBorD (Cyclophosphamide, Bortezomib, and Dexamethasone) treatment for multiple myeloma that has just been diagnosed. We offer this instance to demonstrate that, although uncommon, amyloidosis can initially only manifest as numerous swellings on the tongue.

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Vincristine, doxorubicin and cyclophosphamide chemotherapy induced oral chronic hyperplastic candidiasis and xerostomia in a young patient with Ewing’s sarcoma: A case report

DOI: 10.2478/amma-2023-0018

A common primary bone malignancy in childhood and adolescence is Ewing’s sarcoma. Here we report multidisciplinary approach in the management of chronic hyperplastic candidiasis and xerostomia secondary to chemotherapy with vincristine, doxorubicin and cyclophosphamide (VDC) in a pediatric male patient with Ewing’s sarcoma of Ethmoid sinus. The initial diagnosed oral lesion was treated with topical clotrimazole 1%w/v for two weeks and Sucralfate 1g/10mL oral rinse for one month. Upon subsequent VDC chemotherapy cycle, the patient developed grade IV oral mucositis, severe neutropenia and associated oesophageal candidiasis. Treatment included combination of topical clotrimazole 1%w/v and Fluconazole 300mg/day (IV for 5 days and Tablet for 14 days). To prevent caries risk, pit and fissure sealants were applied and topical fluoride therapy was given; patient was encouraged to have frequent sips of water and prescribed kids xylitol gum for 15 days to minimize xerostomia. At 5-week follow up, reduction in burning sensation and resolution of white lesion was noted.

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The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report

DOI: 10.2478/amma-2023-0017

Introduction: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by hamartomatous intestinal polyps and mucocutaneous pigmentation. Most cases appear to be linked to the mutation of the STK11 gene. Patients are at a lifetime risk of gastrointestinal and non-gastrointestinal cancers.
Case Presentation: The present study offers the case of this rare disorder in a young woman revealed by jejunal obstruction caused by intussusception. A 32-year-old woman was referred to the surgical department with symptoms suggestive of an obstructive syndrome. On examination, there were multiple perioral pigmented lesions. An urgent exploratory laparotomy revealed bowel obstruction caused by an intussusception with a large polyp. The patient suffered another similar episode 4 years before leading to the diagnosis of Peutz-Jeghers Syndrome, however she was under no surveillance. Patients with pigmented lesions and a family member suffering from the mentioned syndrome should perform endoscopy and genetic tests to diagnose early and avoid complications.
Conclusion: Peutz-Jeghers Syndrome is difficult to treat due to its nonspecific symptomatology and late diagnosis. Life-threatening complications such as intussusception and various types of cancer are unanticipated. It is vital to diagnose and perform routine screening, which will make it possible to prolong the survival of many patients.

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Air guns: An underestimated danger – case presentation, literature review and legal interpretation

DOI: 10.2478/amma-2023-0013

Introduction: The compressed air weapon is a type of arm to which the projectile is propelled due to the compression of air in a sealed chamber. These types of weapons belong to the category of non-lethal weapons and ammunition subject to authorization. However, accidental fatal cases, suicides or even deaths with intention attributed to these types of weapons are described in the literature.
Case presentation: We are discussing the case of a 5-year-old boy who, at a picnic with several families, is shot and killed with a compressed air rifle, left unattended. The medical crew arrived at the scene could not save the boy’s life. Necroptic examination revealed a gunshot wound through the heart, with the projectile stuck in the lateral-internal wall of the right ventricle. The projectile identified was a metal type projectile (lead), with a length of 8.5 mm and a diameter of 4.5 mm.
Conclusions: Compressed air weapons, although considered non-lethal, have proven over time their extremely dangerous potential through the fatal injuries produced. Raising public awareness, limiting use and enforcing strict legislation could prevent tragic events.

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Post maxillectomy definitive rehabilitation in post-covid mucormycosis patients using conventional and 3D printed obturator: A twin case report

DOI: 10.2478/amma-2022-0032

Maxillectomy is the surgical removal or resection of the maxilla or upper jaw bone. Maxillectomy may be total or partial. It is performed during surgical treatment of cancer and infections (bacterial. fungal) of the oral cavity, nasal cavity and maxillary sinuses. Patient affected from post-Covid mucormycosis require local debridement or surgical resection resulting in maxillectomy. After surgery, patient has difficulty in mastication, speech, and swallowing because of communication between oral and nasal cavity. This may also give rise to psychological challenges and social exclusion. The prosthodontic rehabilitation of such patient using obturator provide a separation between oral and nasal cavity and improve the quality of life of the patient. There are various techniques and materials used for fabrication of definitive obturator. This article discusses the prosthodontic rehabilitation after maxillectomy in post-covid mucormycosis patients using obturator by conventional and 3D printed techniques.

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