Category Archives: Case Report

The von Meyenburg Complexes

Background: Biliary duct hamartomas (the von Meyenburg complexes) is a rare malformation of the hepatic ductal plates usually discovered incidentally during surgery or autopsy.
Case presentation: We present the case of a 66 year-old man who presented symptoms suggestive of a biliary colic. Following an open surgical biopsy from the liver, the sample obtained underwent classic Hematoxylin-Eosin, as well as histochemical and immunohistochemical stains, which allowed establishing the diagnosis of biliary duct hamartoma, using macro- and microscopical criteria (well-defined, subcapsular hepatic lesions and no nuclear atypia).
Conclusion: The recognition of this particular lesion is important due to its macroscopic and microscopic resemblance to multiple liver metastases and other types of multicentric subcapsular hepatic lesions. The mandatory technique in order to diagnose this rare type of hepato-biliary lesion remains the histopathological examination.

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Giant Abdominal and Penoscrotal Idiopathic Lymphedema

The lymphatic system produces and transports fluids, immune cells and fats throughout the body. Abnormal transport and accumulation of lymph fluid may cause swelling (lymphedema).
Lymphedema, occurring quite frequently in the medical practice, may appear in a variety of pathologies such as: allergic reactions, infectious diseases, localized infections, radiotherapy, insect bites, as post-surgery reaction, etc. In all cases, it represents a subsequent effect of the main illness [1].
There is very small number of cases where lymphedema occurs as sole affection, the so-called ”primary or idiopathic lymphedema”. It is considered a genetic disease resulting in agenesis or the insufficient development of the lymphatic system [2].
The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, movement, and survival of lymphatic cells. These mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly transported, it builds up in the body’s tissues and causes lymphedema. It is not known how mutations in the FLT4 gene lead to the other features of this disorder, but many of these patients do not have a FLT 4 gene mutation. In these cases the cause of the swelling is unknown [1,3].[More]

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Gastric Trichobezoar

Introduction: Trichobezoars arise from the aggregation of ingested hair with other indigestible organic fibers. Trichotillomania, the practice of habitually pulling hair out, in association with habitual ingestion of hair (trichophagia) can predispose to the formation of trichobezoars.
Material and method: We present the case of a 28 year-old woman who was admitted to our clinic for abdominal pains, nausea and weight loss. The clinical examination revealed an abdominal mass in the upper part. The laboratory parameters were normal excepting a mild anemia and hipoproteinemia. A CT Scan of her abdomen showed a markedly distended stomach with a centrally located soft tissue abnormality. The patient underwent exploratory laparotomy and gastrotomy. We found an intragastric mass made up by hair. The trichobezoar was removed intact as a firm black mass and it was confirmed by the microscopic examination.
Results: The patient’s post-operative course was uneventful and she was discharged after 7 days of hospitalisation. We suggested psychiatric counseling.
Conclusions: The trichobezoar appears in young people with psychiatric disorders. Due to its dimensions, the only treatment in this case was open surgery. The after surgery course is usually favorable and needs psychiatric counseling.

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Acute Infusion Reaction to Infliximab in a Case of Crohn’s Disease with Recto-Scrotal Fistula

Crohn disease is an inflammatory bowel disease that involves any region of the alimentary tract from the mouth to the anus and it is transmural. Children with early onset are more likely to have colonic involvement. Infliximab constitutes today one of major therapeutic approaches in severe and fistulising cases of Crohn disease. We present the case of a 16 year-old boy who was admitted to our department presenting recto-scrotal fistula, fever, tenesmus, red-bloody stools, pain during and after defecation. In order to induce remission of the disease, we administrated Infliximab. The initial response to therapy was good, but he developed an acute infusion reaction during the administration of the 3rd dose, which forced us to quit this therapy.

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Chronic Vulvar Pain

Background: Chronic vulvar discomfort due to paucity of clinical signs is often associated with the term “vulvodynia”, perceived as a psychiatric problem.
Case report: A 28-year-old female patient presented for a 2-year history of vulvodynia, without any pathologic vulvar aspects. We investigated this syndrome by means of vulvar cytology, vulvoscopy, histology and ViraPap, too.
Results: Our interdisciplinary consultation indicates that vulvar vestibulitis syndrome co-exists with micropapillomatosis labialis (MPL), due to certain types of HPV. A herpes simplex episode occured 4 months after therapy and recurrent vulvovaginal candidiasis, too. During a period of 8 months, clinical examination showed smooth and well-demarcated whitish shiny plaques, that affected the clitoral hood, labia minora, the posterior fourchette and perineum. The clinical picture suggested a vulvar dystrophy.
Discussions: In this case report we intend a multidisciplinary approach to give a physical support to certain cases of vulvodynia, often associated with an expression of a psychological discomfort.

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Routine Immunophenotyping in Acute Leukemia, the Importance of Lineage Assessment

We present the case of an adult male patient, where the assessment of cell line could not be done without corroboration of the immunophenotype and cytological analysis. The correct lineage assessment is needed in order to treat the patient correctly. Morphology, cytochemistry, and immunophenotyping were used and the diagnosis we established was B acute lymphoblastic leukemia with aberrant myeloid markers (CD13, CD33). Periodic Schiff Acid stain was very useful to obtain an accurate diagnosis. Adult B acute lymphoblastic leukemia usually has an unfavorable prognosis because of certain cytogenetic abnormalities (Philadelphia chromosome) and different reactivity to treatment. This case strongly supports the continued use of immunophenotyping in the diagnosis and monitoring of acute leukemia and corroboration of different diagnostic techniques for the diagnosis.

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Acute Myeloblastic Leukemia: Difficulties of Treatment, Complications and Evolution

Introduction: This paper presents a special case of an acute myeloblastic leukemia accidentally diagnosed on a 57 years old asymptomatic person without occupational exposure, without a medical history, with normal blood count, without thrombocytopenia, as a result of routine hematological tests that reveal the presence of more than 10% blasts on peripheral blood smear.
Material and method: Bone marrow aspirate revealed 80% blasts and flow cytometry confirmed the diagnosis of acute myeloblastic leukemia LAM0. Cytogenetic examination showed normal karyotype 46, XX. The treatment aims to induce, maintain and consolidate remission. Since the classical therapeutical approach with Idarubicine and Cytarabine 3+7 was not tolerated, adjustments were necessary to 2+5, four courses being administered. During the remission period Methotrexate and Purinetol maintenance treatment was administered, it was obtained a tolerable quality of life, the patient resumed his work. The first relapse occurred after approximately one year. Later medical courses were established after chemotherapy protocol with Clofarabine and Cytarabine, but after intolerance, neutropenia, sepsis and death occured.
Results: Because of the severe prognosis and infectious complications the treatment was difficult and dose ajustments were necessary according to patient’s tolerance. Bone marrow transplant was not possible due to the lack of a compatible family donor.
Conclusions: This case of acute myelogenous leukemia treatment reflects the difficulties and complications occurred during the disease evolution. However remission periods with a tolerable quality of life were obtained, duration of treatment was approximately three years until death.

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Multidisciplinary Approach of Breast Cancer. Case Reports

Introduction: Breast cancer is still the world’s most common cancer in women. Multidisciplinary approach represents the gold standard in diagnosis.
Case presentation: In order to emphasize the importance of this issue, we present three of our cases. In these cases of invasive carcinoma, in women ranged from 42 to 54 years, the diagnosis tools were clinical examination, mammography, ultrasound and histopathology. Minimal invasive breast biopsy and preoperative localisation procedures, under ultrasound and stereotactic guidance contributed to preoperative planning.
Conclusions: Interdisciplinary approach in diagnosis provides optimal management of breast cancer.

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Atrial Fibrillation, the First Manifestation of Atrial Myxoma

Introduction: Atrial myxomas are the most common primary heart tumors. Although quite rare, left atrial myxomas account for 80% of all cardiac tumors. Diagnosis is often difficult due to the wide array of presenting symptoms. This case report discusses an unusual presentation of left atrial myxoma in an elderly patient.
Case presentation: A 73-year old woman with a history of hypertension, dyslipidemia and hyperthyroidism treatment presented to the emergency department with a new onset episode of palpitations. The electrocardiogram revealed atrial fibrillation. Rate control was achieved with beta-blockers and sinus rhythm transition was achieved shortly after admission. Transthoracic echocardiography revealed a heterogeneous mass in the left atria with a villous surface, occupying more than 50% of the left atrial cavity. Surgery was recommended because of the embolic potential of such a mass and tumor excision was performed. Microscopic pathology showed typical histological features of cardiac myxoma with no atypia or malignancy, and the patient was discharged in sinus rhythm 7 days after surgery.
Discussion and conclusions: Left atrial myxoma presenting in the seventh decade of life is rare. Elderly patients often present with non- specific symptoms that are often overlooked in the absence of a supporting cardiac history, which makes an early diagnosis challenging. We conclude that the majority of myxomas mimic many cardiovascular diseases and were detected in symptomatic patients, so a high index of clinical suspicion is important for its early and correct diagnosis. Two-dimensional echocardiography provides substantial advantages in detecting intracardiac tumors.

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Endoscopic Examination: a Present and Future Challenge

The detection and surveillance of patients with premalignant gastric lesions could lead to early detection and treatment of gastric cancer. These lesions are mostly diagnosed in random biopsy samples obtained during conventional endoscopy. New endoscopic techniques, such as magnification endoscopy, may help the detection of neoplastic lesions. In this case series, we intended to emphasize the current problems in the detection and surveillance of gastric neoplasic lesions in clinical practice. Four cases with gastritis-like appearance on conventional endoscopy were identified with gastric dysplasia or carcinoma on histopathologic evaluation. We discussed the subjective interpretation of endoscopic findings, the challenges in the surveillance of low-grade dysplasia and the contribution of magnifying endoscopy on diagnostic accuracy. The performance of endoscopic examination and surveillance could be improved by magnified chromoendoscopy with targeted biopsies. An understanding of diagnostic challenges of gastric dysplasia is crucial in clinical management.

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