Category Archives: Case Report

Metatypical Carcinoma – A Continuous Challenge for the Clinician

DOI: 10.2478/amma-2020-0026

Introduction: Non-melanocytic skin cancers represent the most frequent type of cutaneous carcinomas. Also called basosquamous cell carcinoma and considered by some authors as a clinical form of basal cell carcinoma, metatypical carcinoma represents a controversial clinical entity.
Case presentation: This paper aims to present the case of a 42-year-old female patient who presented to the doctor’s office for the appearance of a painful cutaneous tumor located in the left submandibular region. Excisional biopsy was performed. The microscopic features were consistent with the diagnosis of metatypical carcinoma with the predominance of the squamous type.
Conclusions: Taking into consideration its aggressive behavior, careful follow-up of patients diagnosed with this rare type of cutaneous tumor is mandatory for precocious identification of possible metastases and improvement of long and short term prognosis.

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Prenatal Diagnosis of Binder Phenotype, Naso-Maxillar Hypoplasia

DOI: 10.2478/amma-2020-0032

Facial dysmorphism is a common diagnosis which represents a broad spectrum of aetiologies with different outcomes spreading from normal outcome to foetal demise or new-borns with multiple malformations. Prenatal diagnosis can be difficult, making counseling a challenging task even in experienced hands. This paper aims to present an unusual case of facial dysmorphism (Binder phenotype) which resulted in a normal pregnancy. However, throughout the pregnancy, future parents experienced excruciating anxiety, which required multiple prenatal counseling appointments. We believe that in case of a Binder phenotype, genetic testing, multiple scanning appointments and extensive discussion with future parents are vital in the prevention of an unneeded ending of a pregnancy.

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Genitourinary Bacterial Infection: a Cause of Infertility in Men? A Cases Series and Short Review of Literature

DOI: 10.2478/amma-2020-0024

Introduction: The role of bacterial infections on the onset and the development of male infertility is still highly controversial, as the clinical cases have different outcomes and the practitioners have no guidelines that will help them select the cases that could better benefit from antibiotic treatment.
Case presentation: Four case reports are presented in order to emphasize the possible clinical implications of genitourinary bacterial infections on male infertility. The first patient had two bacterial strains isolated from the semen culture, Escherichia coli, and then Enterococcus faecalis. The antibiotic treatment was not effective. The second patient had a semen culture positive with Enterococcus faecalis. The treatment was successful: the bacteria were eradicated and the patient was able to conceive a baby. Enterococcus faecalis was also identified in the third and the fourth case. These patients were able to conceive, despite the different clinical management strategies of the cases.
Conclusion: Bacterial prostatitis might play a role in male infertility, but the clinical cases are still highly unpredictable. Every case presents a different viewpoint and raises awareness of the complexity of the problem.

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Ovarian Endometriosis and Malignant Transformation in Clear Cell Carcinoma

DOI: 10.2478/amma-2020-0023

Atypical endometriosis is considered to be precursors for malignancy. Coexistence of atypical endometriosis and ovarian neoplasm has been found in some studies. We describe the case of a 48-year old women diagnosed with clear cell carcinoma of ovary. The review of histological slide confirms the presence of benign endometriosis in both ovaries, the atypical endometriosis and clear cell carcinoma in the right ovary and the presence of uterine leiomyoma.

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SARS-CoV2 Infection in a Multiple Sclerosis Patient Treated with Natalizumab – A Case Presentation

DOI: 10.2478/amma-2020-0022

Introduction: The novel coronavirus, SARS-CoV2, has rapidly spread worldwide and led to an intense collaboration among both physicians and researchers in order to stop its dissemination. Little is yet known about how this virus behaves, but recent studies have suggested the role of integrins in the viral penetration of target cells. Natalizumab is an anti-α4-β1 integrin monoclonal antibody used in the treatment of multiple sclerosis (MS), a neurodegenerative auto-immune disease affecting primarily young adults. MS patients have a greater susceptibility to develop severe infections especially enhanced by the disease-modifying therapies (DMTs) which are currently recommended for their treatment. Natalizumab is considered the safest high-efficacy DMT in times of COVID-19 outbreak.
Case presentation: We hereby describe the first case from Romania of a MS patient treated with Natalizumab who subsequently acquired SARS-CoV2 infection and whose recovery was excellent, with no functional neurological or respiratory sequelae.
Conclusion: The favourable evolution of our patient supports the potential therapeutic effect Natalizumab might have in SARS-CoV2 treatment by specifically blocking integrins and by its immunosuppressant characteristics.

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Ambulatory Treatment of Pressure Sores in a Patient without Neurological Lesions

DOI: 10.2478/amma-2020-0021

Introduction: Pressure sores have been defined as areas of localized soft tissue ischemic necrosis caused by prolonged pressure related to posture, which usually occur over a bony prominence. The most affected areas are those that undergo a lot of tension such as trochanters, sacrum, malleoli, heels and occiput. Most people that are affected by pressure sores have an underlying pathology that makes them immobile, confining them to chairs or bed for longer periods of time. Pressure ulcers may have direct causes (pressure, shear, friction, immobility, loss of sensation) or indirect causes.
Case presentation: This paper will present the case of a 53-year-old male. After about 3 weeks of being immobilized in bed in dorsal decubitus due to an acute respiratory distress which required intubation and mechanical ventilation, the patient developed very large pressure sores on the left sacral and buttock area and left sole. He was treated in the outpatient department using multiple therapeutic protocols based on the alternation of antibiotic creams and modern absorbent dressings.
Conclusions: The evolution of this patient was long but favorable, the left sacral and buttock area eschar closing completely while the sole eschar had a good evolution, but is still undergoing treatment.

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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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