Antonia-Carmen LISIEVICI, Tiberiu Augustin GEORGESCU, Diana PASOV, Alexandru TASCU, Mihai Gheorghe LISIEVICI and Maria SAJIN

ABSTRACT

Objectives: Ganglioglioma (GG) represents an extremely rare tumor of the central nervous system, which is composed of two different cellular populations: a glial cell population and a neuronal cell population, the former being the one which will establish the histologic grade of the tumor. The current World Health Organization (WHO) Classification of Tumors of the Central Nervous System divides gangliogliomas into benign (WHO grade I) and malignant (WHO grade III). Several scientific studies acknowledge that some tumors are difficult to grade but, due to the scarcity of cases as well as the lack of multicentric epidemiological data, there are no extensive studies regarding this matter in the neuropathology literature.
Material and methods: We report a short case series of three patients with ganglioglioma who were admitted and treated at the Neurosurgery Department of “Bagdasar Arseni” Emergency Hospital. The patients had different clinical presentations, varying from migraines and epileptic seizures to development of a large, slowly growing tumor. Tissue fragments were obtained through surgical resection and sent to the Pathology Department for microscopic investigation.
Outcomes: Histopathologic examination revealed both components of the tumor, supporting the diagnosis of ganglioglioma, albeit the glial component featured different histologic grade in each tumor. The tumor diagnosed as grade II lacked mitoses, but showed conspicuous atypia and numerous multinucleated cells. Immunohistochemistry revealed immunoreactivity for synaptophysin, chromogranin A and neurofilament in the neuronal component and GFAP positivity in the glial component of the tumor. Neurofilament showed an unusual pattern of staining, in which areas with benign features showed patchy positivity, while areas with malignant features and striking nuclear pleomorphism were completely negative.
Conclusion: Due to the completely different clinical outcome, we strongly believe that a grade II ganglioglioma should be differentiated from a grade III GG, based on the lack of mitoses, necrosis and microvascular proliferation. The differentiation between grade II GG and grade I GG should be made on the cellular pleomorphism of both components (glial and neuronal). Based on our experience, we conclude that immunohistochemistry could aid in this differentiation through markers like: Ki67, neurofilament, CD34 and chromogranin A. We strongly believe that further immunohistochemical research on larger study groups will eventually lead to a consensus regarding definitive criteria for grade II gangliogliomas.
Keywords: ganglioglioma, histological grading, glioneuronal neoplasms.

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Adrian DUMITRU, Mariana COSTACHE, Anca Mihaela LAZAROIU, George SIMION, Diana SECARA, Monica CIRSTOIU, Alina EMANOIL, Tiberiu Augustin GEORGESCU and Maria SAJIN

ABSTRACT

Fraser syndrome is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. In total, about 150 affected patients have been described in the literature. The diagnosis of this syndrome can be established after clinical examination. We present the clinical findings of a rare case of Fraser syndrome with lethal phenotype due to bilateral renal agenesis in a female stillborn.

Keywords: Fraser syndrome, cryptophthalmos, syndactyly, urogenital malformation

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Mariana COSTACHE, Oana Maria PATRASCU, Dumitru ADRIAN, Diana COSTACHE, Maria SAJIN, Emil UNGUREANU and Olga SIMIONESCU

ABSTRACT

Uveal melanoma is the most common primary malignancy of the eye in white adults. Frequently, uveal melanoma arises from choroid or iris. Ciliary body melanoma is a rare if not exceptional subtype of uveal melanoma. Furthermore, ciliary melanoma is often seen in association with the other two subtypes of uveal melanoma. This paper presents a case of primary ciliary melanoma with invasion of the iris. The patient presented with blurred vision, but this symptom could not doubtless be related with the existence of the tumor, because of the small dimension of the malignancy and the lack of medical history of the patient. This tumor was included in the category of “very small ciliary melanoma”, a rare diagnosis considering the fast local invasion and the lack of symptoms in such a small tumor. Histopathological and imunohistochemical examinations confirmed the diagnosis of ciliary melanoma, This type of ocular melanoma has a low prognosis due to early metastases.

Keywords: ciliary body, uveal melanoma, genetic predisposition, unfavorable prognosis 

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Oana Maria PATRASCU, Monica CIRSTOIU, Anca Mihaela LAZAROIU, Adrian Vasile DUMITRU, Andreea Elena MIHAI, Manuela POPA, Anca DIMITRIU, Maria SAJIN, Mariana COSTACHE and Andreea ILIESIU

ABSTRACT

Associations of different pathologies are not uncommon in every day practice, but association of disseminated infections like cytomegalovirus infection and tuberculosis are quite rare and hard to diagnose. Both are infections which appear frequently in immunocompromised patients and have unfavorable prognosis. We present a case of a 62 year old male with a history of Crohn’s disease and tuberculosis which presented with symptoms of relapse and infection. He was treated with immunosuppressive medication and cortisol for the past 6 weeks. Cytomegalovirus (CMV) infection was serologically confirmed. In evolution, he suffered from gastrointestinal hemorrhage and died afterwards due to the hemorrhage and pulmonary infections. Histology confirmed the CMV modification in the lungs and intestines, but also highlighted active and disseminated tuberculosis (TB), bronchopneumonia, osseous metaplasia, hyaline membranes, numerous TB abscesses in the intestinal wall and specific CMV and TB modifications in the liver. The trigger for such important and serious infections remains unclear, for the cause can be represented by the Crohn’s disease per se or only by the immunosuppressive treatment. Also, CMV can trigger modifications in immune system and patients with immune-mediated diseases have an increased risk for TB reactivation.

Keywords: cytomegalovirus, tuberculosis, Crohn’s disease, osseous metaplasia, gastro-intestinal hemorrhage

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Monica CIRSTOIU, Luminita Elena MITRACHE, Manuela POPA, Nicoleta Corina MEHOTIN, Maria SAJIN and Catalin CIRSTOIU

ABSTRACT

We report the case of a 44-year-old woman who presented with vaginal bleeding. Vaginal examination and colposcopy showed a tumor on the anterior lip of the cervix. Trans-vaginal sonography revealed a thickened endometrium with accentuated vascularization. Samples from the tumor and endometrium were collected by byopsic curettage. Histopathologic examination showed atypical hyperplasia of the endometrium and benign xanthogranuloma of the cervix. Therefore, surgical intervention was performed.

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