Category Archives: Case Report

Asymptomatic Myxomatous Degeneration of the Mitral Valve, in a Young Male

DOI: 10.2478/amma-2020-0018

Background: In young patients, the most common cause of mitral valve regurgitation is prolapse or flail of the valve, which is morphologically reflected by myxomatous degeneration. In rare cases, such this presented in this paper, this lesion might be incidentally identified, in young people.
Case presentation: A 43-year-old male, with familial history of hypertension, presented in our Department of Cardiology for a routine check-up. Despite of lack of symptoms, an intense murmur was detected at mitral auscultation area. The echocardiography revealed a severe mitral regurgitation caused by flail of posterior mitral valve. The patient was transferred to the Cardiac Surgery Department for surgical intervention consisting in mitral valve repair. The histopathological examination revealed severe myxomatous degeneration of the spongiosa and fibrosa layers. The recovery after surgery was very good with no postoperative complications. The patient was discharged seven days after surgery, with no significant mitral regurgitation at the three-month follow-up.
Conclusions: In young, asymptomatic patients, the proper time for mitral valve repair should be decided by an interdisciplinary team. For a better understanding of myxomatous degeneration particularities, histopathological assessment should be done in any replaced valve. Certification of such lesions, under microscope, might be an indicator for familial cardiovascular screening, in first degree relatives.

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Necrobiosis Lipoidica Diabeticorum

DOI: 10.2478/amma-2020-0013

Introduction: Necrobiosis lipoidica diabeticorum is a rare complication occuring mostly in diabetic patients appearing as a skin redness that soon transforms into an extensive necrosis. The usual aspect of such lesions is a deep ulceration with irregular borders developing especially on the lower limbs.
Case presentations: This paper intends to present two cases of necrobiosis lipoidica diabeticorum focusing on the clinical aspect of this disease and the original treatment applied in the Plastic Surgery Department of the Clinical County Hospital of Targu Mures. Both patients suffered from type II insulin-requiring diabetes. The first case is a 63 year old female with different stages of necrobiosis lipoidica diabeticorum lesions developed on the anterior aspect of both legs. This patient was treated using only conservative methods. The second case is a 64 year old male who developed an extensive full-thickness necrosis on the right dorsal aspect of the hand and forearm. The lesions required conservative treatment and the surgical debridement of the extensive necrotic tissues.
Conclusions: Necrobiosis lipoidica diabeticorum is a dramatic condition requiring a well informed approach in order to save the healthy tissues as much as possible. In both cases, the wounds healed spontaneously after a long period of time.

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Urinary Retention in Female after Augmentation Gluteoplasty: A Case Report

DOI: 10.2478/amma-2020-0011

Introduction: There are many well-known complications after gluteal augmentation surgery, such as: seroma, hematoma, capsular contracture, retraction, wound dehiscence etc., but there are some due to nervous damage (especially submuscular pockets with large implants) insufficiently recognized. The aim of this case report is to highlight a rare complication (urinary retention) after gluteal augmentation surgery with use of solid silicone implants in case of 41-year-old female. Woman aged 41 with a buttock augmentation with silicone implant (submuscular pocket, 300cc) performed 2 months before at plastic surgery service in Madrid, was admitted in our service, the Clinic of Urology from Tg. Mures, with permanent bladder catheter inserted for urinary retention.
Outcome: At the admission, two months after the surgery the clinical examination revealed a permeable urinary catheter with clear urine and a fistulisated wound infection localized in the superior 1/3 of the incision in the intergluteal sulcus. Neither neurological or gynecological examination identified any pathology. After the removal of the catheter, next day the abdominal ultrasonography showed a distended bladder, with a postvoid residual urine volume of 320 ml. Urodynamic investigations (uroflowmetry, pressure flow studies) revealed a reduced Qmax. 7,6 ml/sec, underactive detrusor with a reduced BCI value of 60 (bladder contractility index), requiring self-intermittent catheterization, associated with alpha-blockers.
Conclusions: Buttock implantation is a frequently used plastic surgery procedure with rather high rate of complications, some of them not well identified, unknown such as detrusor underactivity leading to urinary retention.

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Genetic Investigation and Clinical Aspects in a Romanian Treacher Collins Syndrome Family – A Case Report

DOI: 10.2478/amma-2019-0026

Introduction: In approximately 96% of probands, the diagnosis of Treacher Collins Syndrome (TCS) is confirmed by molecular genetic tests. These tests can detect heterozygous mutation of TCOF1 gene (coding treacle protein) and variants of POLR1D gene (coding RNA polymerase I subunit D) with autosomal dominant inheritance, or biallelic variants of POLR1C gene (coding RNA polymerase I subunit C) and POLR1D with autosomal recessive inheritance. Case presentation: We present a neonate proband with family history of clinical features suggestive for TCS. Our patient was investigated for copy number changes (CNCs) of TCOF1 gene using SALSA MLPA P310-B3 TCOF1 probemix to perform Multiplex Ligation-dependent Probe Amplification (MLPA), the results being normal. Dysmorphic features revealed “bird-like” face with trigonocephaly, craniosynostosis, hypoplastic supraorbital rims, underdeveloped zygomas, mandibular hypoplasia and retrognathia (mandibulofacial dysostosis). Other clinical features, like abnormal position and structure of the external ears (microtia, with a bilateral low-set ears, crumpled and malformed pinnae and aural atresia), were also observed. Conclusion: Taking into account our results, and also data found in literature, we consider that all TCS cases, but in particular patients with specific TCS features and without CNCs, require additional investigations using sequencing techniques.

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Silent Ischemic Stroke Was Revealed after Screening for Cognitive Dysfunction in a Hypertensive Patient with New Onset Atrial Fibrillation – Case Report

DOI: 10.2478/amma-2019-0018

Introduction: Hypertension is one of the most important modifiable risk factor related to cognitive decline and dementia. However, screening for cognitive dysfunction is not part of the routine clinical assessment.
Case presentation: In this report, we present the case of a 75 year old hypertensive male patient with new-onset atrial fibrillation, admitted to the Cardiovascular Rehabilitation Clinic Târgu Mureș. Apart from the routine clinical assessment, the evaluation of cognitive functions was performed with three different screening instruments which identified cognitive dysfunction. Depressive state was assessed with the shortened 13 items form of the Beck Depression Inventory BDI-13 (BDI-13) and it showed moderate depression which could influence the results of cognitive tests. Detection of cognitive impairment was followed by magnetic resonance imaging, which revealed not only hypertension specific microvascular impairment but also a sequelae of a former stroke in the territory of the left middle cerebral artery and a possible meningioma.
Conclusion: Screening for cognitive dysfunction in high-risk hypertensive patients can be easily performed and in several cases like ours, can unmask silent cerebrovascular pathologies, leading to prognostic and therapeutic consequences.

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Postoperative Lymphorrhagia – a Possible Complication Following Cephalic Duodenopancreatectomy

DOI: 10.2478/amma-2019-0013

Surgery associated with lymphadenectomy may sometimes result in a lymphorrhagia, which usually resolves spontaneously within a few days, sometimes becoming a refractory complication to the treatment. In the case of large flows, particular attention should be paid to hydroelectrolytic and protein losses. We present the case of a patient with persistent lymphorrhagia after a cephalic duodenopancreatectomy for a pancreatic head tumor. From the 5th postoperative day, the patient had a milky-like secretion on the subhepatic drainage tube. The discharge rate was variable, between 500 and 1500 ml per day, requiring parenteral administration of amino acids, plasma and electrolyte solutions. The postoperative progression was slowly favorable, with the patient discharge on the 25th day following surgery. There are several treatment options for a lymphorrhagia following an extended lymphadenectomy, from intensive parenteral therapy to peritoneal-venous shunt or ligation of the lymphatic vessel responsible for the production of lymphorrhagia. In this case the conservative treatment had a favorable result.

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Case Presentation: Unusual Association Between Possible Bilateral Intraventricular Xanthogranulomas, Postero-inferior Cerebellar Artery Aneurysm and Thrombophilia

DOI: 10.2478/amma-2018-0027

Introduction: Xanthogranulomas are rare, benign, usually asymptomatic, cutaneous tumors most frequently seen in children (juvenile xanthogranulomas). Some lesions can be found accidentally at randomly performed cerebral computer tomography (CT) or magnetic resonance imaging (MRI) or even on autopsy.
Case report: We present the case of a 44 year-old woman, known with a thrombophilic disorder (PAI-1 gene mutation, MTHFR C677T and A1298C) on chronic anticoagulant treatment. The onset of symptoms was in 2010, when she presented paresthesia and lower limbs weakness. Two years later the patient presents with severe intermittent headache and left hemicrania and a cerebral angio-MRI is performed showing a left postero-inferior cerebellar artery aneurysm and two choroid plexus intraventricular masses in the lateral ventricles. The patient developed a new symptom, dysarthria in 2014 and in 2015 has multiple episodes of loss of consciousness, interpreted as epileptic seizures. Routine blood tests were within normal range, except for a high cholesterol level. The patient was tested for autoimmune, infectious, endocrine and metabolic diseases that were negative. Surgical treatment and biopsy from the lesion was proposed, however the patient refused both procedures.
Conclusions: There is an association between xanthogranulomas localization and the choroid plexus, the most frequent CNS origin being in the trigon of the lateral ventricle. Our case does not resemble with any other case published, mostly because the unusual presentation, symptomatology and the association between xanthogranulomas, thrombophilia and postero-inferior cerebellar artery aneurysm which were never reported before in other cases of xanthogranulomas from the literature.

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Uncommon Finding of a Gastrointestinal Stromal Tumor in a Patient with Hyperechoic Liver Lesions – Case Report

DOI: 10.2478/amma-2018-0026

Introduction: Hyperechoic liver lesions identified by conventional ultrasonography are diverse in underlying pathology and most of the time require further investigations. Gastrointestinal stromal tumors (GIST) are rare neoplasms of the gastrointestinal tract which are uncommonly found in metastatic stages at first presentation.
Case report: We present the case of a 51 years old woman with nonspecific symptoms in which conventional ultrasonography showed hyperechoic lesions in the right lobe of the liver with a diameter up to 40 mm. Esophagogastroduodenoscopy revealed a submucosal tumor on the small curvature of the stomach, on the anterior wall, with central ulceration, with normal narrow band imaging (NBI) mucosal pattern and negative gastric biopsy. Contrast enhanced ultrasonography was performed, describing multiple lesions with inhomogeneous enhancement in the arterial phase and rapid washout at the end of arterial phase. Endoscopic ultrasound with fine needle aspiration (EUS-FNA) biopsy examination was definitive for the final diagnosis of epithelioid gastric gastrointestinal stromal tumor. The patient was diagnosed with T2N0M1 epithelioid gastric GIST, stage IV, and is currently under treatment with tyrosine kinase inhibitors.
Conclusions: GIST represent a diagnostic challenge in medical practice because of its size, unusual location in the submucosal layer and lack of symptoms. The role of EUS-FNA is of paramount importance in increasing the accuracy of diagnosis in the case of GIST. The particularity in our case consists of the unusual presentation with the lack of specific symptoms and signs associated with the presence of metastatic lesions at the moment of the diagnosis of GIST.

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Histopathological Diagnostic Criteria for Non-invasive Follicular Thyroid Neoplasm with Papillary-like Nuclear Features Highlighted by Six Illustrative Cases

DOI: 10.2478/amma-2018-0015

Introduction. The encapsulated, non-invasive subtype of follicular variant of papillary thyroid carcinoma (FVPTC) represents approximately 10% to 20% of all thyroid cancers. Many studies over the past decade have shown that these tumors carry an indolent clinical course, with no recurrence, even in patients treated by lobectomy. Their reclassification as neoplasms with “very low malignant potential” has recently been suggested by an international group of experts and a new terminology was proposed: “non-invasive follicular thyroid neoplasm with papillary-like nuclear features” (NIFTP). However, a diagnosis of NIFTP is still challenging for many pathologists in daily practice.
Presentation of case series. By presenting six illustrative cases of NIFTP, this article aims to highlight the diagnostic criteria and the burden difficulties when dealing with NIFTP cases. Characteristic histological features, inclusion and exclusion criteria for NIFTP, as well as sampling guidelines and differential diagnosis challenges are all discussed.
Conclusions. The diagnosis of NIFTP is not straightforward and requires meeting strict inclusion and exclusion criteria. Total sampling of the tumor capsule in these cases is mandatory in order to exclude invasion (capsular and/or vascular). A diagnosis of NIFTP promotes a less-aggressive patient management that is, no need for completion thyroidectomy or radioactive iodine therapy.

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Glomus Tumor of the Kidney: Case report

DOI: 10.2478/amma-2018-0018

Introduction: Glomus tumors are rare benign mesenchymal neoplasms accounting for only 2% of all types of soft tissue tumors. Commonly located in the peripheral soft tissues, they are most frequently encountered in the subungual areas of fingers and toes, and very rarely in visceral organs due to the absence of glomus bodies. To date, 22 cases of primary renal glomus tumors have been described in the literature, of which 17 benign, with no evidence of recurrence or metastasis, three cases of malignant glomus tumor, and two cases with uncertain malignant potential.
Case report: We report the 18th case of a benign glomus tumor of the kidney in a 49-year-old female patient, presenting the microscopic appearance (round, uniform cells with indistinct borders, scant finely granular eosinophilic cytoplasm, round nuclei lacking prominent nucleoli, arranged in solid sheets, accompanied by slit-like vascular spaces), the immunohistochemical profile (tumor cells showed immunoreactivity for smooth muscle actin, vimentin, as well as for CD34; they were negative for AE1/AE3, desmin, HMB-45, S-100 protein, renin, and chromogranin), and the differential diagnosis of this rare entity (juxtaglomerular tumor, angiomyolipoma, hemangioma, epithelioid leyomioma, solitary fibrous tumor, carcinoid tumor, and paraganglioma).
Conclusion: Primary renal glomus tumors are rare tumors that radiologically can mimic other mesenchymal renal neoplasm. Accurate diagnosis is based on the microscopic appearance and especially the characteristic immunophenotype.

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