Clinicopathologic Case Report Research Articles

Severe CTE and TDP-43 pathology in a former professional soccer player with dementia: a clinicopathological case report and review of the literature

In the last decades, numerous post-mortem case series have documented chronic traumatic encephalopathy (CTE) in former contact-sport athletes, though reports of CTE pathology in former soccer players are scarce. This study presents a clinicopathological case of a former professional soccer player with young-onset dementia. The patient experienced early onset progressive cognitive decline and developed dementia in his mid-50 s, after playing soccer for 12 years at a professional level. While the clinical picture mimicked Alzheimer’s disease, amyloid PET imaging did not provide evidence of elevated beta-amyloid plaque density. After he died in his mid-60 s, brain autopsy showed severe phosphorylated tau (p-tau) abnormalities fulfilling the neuropathological criteria for high-stage CTE, as well as astrocytic and oligodendroglial tau pathology in terms of tufted astrocytes, thorn-shaped astrocytes, and coiled bodies. Additionally, there were TAR DNA-binding protein 43 (TDP-43) positive cytoplasmic inclusions in the frontal lobe and hippocampus, and Amyloid Precursor Protein (APP) positivity in the axons of the white matter. A systematic review of the literature revealed only 13 other soccer players with postmortem diagnosis of CTE. Our report illustrates the complex clinicopathological correlation of CTE and the need for disease-specific biomarkers.

Immature orbital teratoma: A rare case diagnosed in utero - A clinicopathological case report

To report a rare case of orbital teratoma diagnosed in utero by ultrasound examination at 24 + 4 weeks of gestation. The fetus was delivered by cesarean section, by terminative medical indication, at 39 weeks of pregnancy, due to the possibility of dystocia caused by the size of the tumoral mass, or the risk of tumor rupture during vaginal delivery, with risk to fetal survival. The neonate, a 3 day-old female patient was examined in our Department with a large tumoral mass in the right orbit, severe proptosis, producing severe disfigurement. The diagnosis of orbital teratoma was confirmed by clinical, image, and histopathological exams. To the authors best knowledge this is the first case of orbital teratoma in Brazilian literature reporting a case where the diagnosis was made in utero, at 24 + 4 weeks of gestation.

Psammomatoid Juvenile Ossifying Fibroma of the Maxilla Misdiagnosed as Fibrous Dysplasia: A Clinicopathologic Case Report

Juvenile ossifying fibroma (JOF) is a variant of the ossifying fibroma and includes two histopathological subtypes: trabecular and psammomatoid. Psammomatoid JOF (PJOF) in craniofacial structures should be distinguished from other fibro-osseous lesions, such as fibrous dysplasia (FD), considering the difference in the treatment protocols. Here, we present a rare case of PJOF that was initially misdiagnosed as a case of FD and emphasize the importance of considering JOF in the differential diagnosis of patients with craniofacial fibro-osseous lesions. A 4-year-old boy demonstrated progressive enlargement of the zygomaticomaxillary area on his left side for the last 6 months. The patient was diagnosed as a case of FD based on the clinical features and radiographic findings, and was operated considering the rapid progression. To achieve facial symmetry, contouring of the zygomatic bone and arch was performed. However, the patient demonstrated rapid enlargement at the 3-month postoperative follow-up. The decision was made to surgically remove the tumor due to visual field impairment. Intraoperatively, a rubbery mass, which was separated from the surrounding cortical bone, was identified and excised. The lesion was confirmed as PJOF by histopathological examination. The possibility of PJOF should not be ruled out in the differential diagnosis of patients with fibrous-osseous lesions. In the event of suspected PJOF, accurate diagnosis should be made through definitive biopsy.

Salmonella enterica serotype Choleraesuis infection in weaned pigs: a first clinicopathological case report from Korea

Salmonella enterica serotype Choleraesuis causes swine paratyphoid, with clinical findings of enterocolitis and septicemia. However, the clinicopathological features of S. Choleraesuis infections in pigs have not been reported in Korea. We describe the pathological findings of two weaned pigs with S. Choleraesuis infections, presenting with diarrhea, cough, and sudden death. Pathological examination indicated severe necrotic colitis in pig 1 and septicemic lesions in pig 2. Multidrug-resistant S. Choleraesuis was isolated from the pigs’ lungs and intestinal contents. Further research is required for the surveillance of S. Choleraesuis infections in pigs and the virulence estimation in the S. Choleraesuis isolates.

Molluscum contagiosum of the corneal limbus in an AIDS patient: a clinicopathological case report

BackgroundMolluscum contagiosum, a pox virus infection, is likely to occur in the eyelid skin; however, corneal involvements by molluscum lesions are extremely rare. We report a case of molluscum contagiosum arising in the corneal limbus in an untreated AIDS patient, together with anterior segment optical coherence tomography (OCT) findings and histopathology of the excised tumor.Case presentationA 46-year-old man with AIDS was referred to our department for the management of an ocular lesion. Blood tests revealed an extremely low CD4+ T-cell count of 11 cells/μL, being strongly positive for anti-HIV antibody (591.36 S/CO) with a high copy number of HIV RNA (8070.0 × 100 copy/mL). Slit-lamp examination of his right eye showed a white nodule at the lower limbus. Anterior segment OCT findings of the nodule revealed a highly reflective elevated lesion, which was considered to involve the Bowman layer. The nodular lesion was excised from the limbus including the superficial corneal stroma, and then processed for histologic examination. Histopathology of the excised lesion showed acanthotic corneal epithelium containing swollen cells with eosinophilic inclusions known as molluscum bodies. He was diagnosed with molluscum contagiosum.ConclusionsAnterior segment OCT findings provide useful information for morphological evaluations of and preoperative strategies against molluscum contagiosum.

Schwannoma of the nasal septum: A rare clinicopathological case report in an 18-year-old female

Schwannoma of the nasal septum: A rare clinicopathological case report in an 18-year-old female

Braak's Unfinished Hypothesis: A Clinicopathological Case Report of α-Synuclein Peripheral Neuropathy Preceding Parkinsonism by 20 Years.

α-synuclein aggregates in the form of Lewy bodies and Lewy neurites are the pathological hallmark of Parkinson disease (PD) and dementia with Lewy bodies (DLB). Autopsy studies suggest that α-synuclein aggregates appear in localized areas of the central nervous system before spreading in a sequential pattern from the brainstem to the cerebral cortex, known as the Braak hypothesis. Increased prevalence of peripheral neuropathy in PD is recognized, with multiple hypothesized mechanisms including α-synuclein deposition. We describe a patient who developed a peripheral sensory neuropathy at age 60, which progressed insidiously over the following decade. During the patient's eighth decade, the patient developed a fluctuant cognitive disturbance with hallucinations before becoming overtly parkinsonian at age 78 years leading to a diagnosis of DLB. At this point, histology slides from a sural nerve biopsy taken at age 72 were re-evaluated and immunohistochemistry demonstrated α-synuclein deposition. This case provides important in vivo clinical correlation for the Braak hypothesis, extending its scope beyond idiopathic PD. A growing body of evidence supports the α-synuclein spreading hypothesis that posits the pathologic process begins in the peripheral nerves and spreads trans-synaptically to the CNS in an ascending pattern.

Rubella eye disease: A clinicopathological case report

Rubella is a viral disease that affects human particularly pregnant females and causes transplacental spread to affect the fetus in utero. Congenital rubella in a child can manifest from mild to severe involvement. We report a case of a young boy with bilateral blindness and sensorineural deafness. Enucleated eye revealed the evidence of rubella eye disease. TORCH titer showed increase of IgG antibody in the serum. An extensive systemic examination and investigations by physician did not show any other signs of extended rubella syndrome.

Schwannoma nasal cavity: a clinicopathological case report

<p class="abstract">Nasal cavity schwannomas are uncommon lesions, representing less than 4% of all head and neck schwannomas. They give rise to nonspecific symptoms such as nasal obstruction, epistaxis, and anosmia. Here we report a 18year old girl who presented with nasal discharge and recurrent epistaxis for four months.</p>

A Clinicopathologic Case Report of a Female with Valosin-Containing Protein (VCP) Gene Mutation Related Disease

Valosin Containing Protein (VCP) gene mutations have been reported in ~1-2% of familial amyotrophic lateral sclerosis (ALS). We report a case of clinically defined and neuropathologically confirmed ALS in a 48-year-old, emaciated female with a p.R155C (c.463 C > T) mutation in VCP gene. She presented with progressive generalized muscular weakness, weight loss, dyspnea on exertion, combined nasal and spastic dysarthria, positive jaw jerk and exaggerated gag reflex.

Coexisting Phacoanaphylaxis and Choroidal Melanoma: An Unusual Intraocular Inflammation

ABSTRACTPurpose: To describe an unusual case of panuveitis in coexisting choroidal melanoma and phacoanaphylaxis.Methods: Clinical records of the patient with intraocular melanoma and pathologic findings of the affected eye were reviewed. Composition of inflammatory infiltrates involving the tumor and lens was evaluated immunohistochemically.Results: Histologically, tumor showed a choroidal mixed cell type malignant melanoma with infiltration of inflammatory cells. The globe also showed typical features of phacoanaphylaxis, characterized by disruptions of the lens capsule with zonal granulomatous inflammation. The inflammatory infiltration revealed the predominant presence of both cytotoxic T cells and histiocytes in phacoanaphylaxis and intra-tumoral inflammation.Conclusions: The current clinico-pathologic case report suggests that a long standing intraocular melanoma can present with phacoanaphylaxis. The immunophenotype of the inflammatory infiltrates at both sites, lens and the tumor, is similar, cytotoxic T cells and histiocytes, favoring a common immune inflammatory process directed at the tumor and the lens.

Przerzut raka jasnokomórkowego nerki do spojówki u 59-letniego mężczyzny – opis przypadku

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Dernoga E, Rospond-Kubiak I, Kocięcki J, Marszałek A. Conjunctival metastasis of a renal cell carcinoma in a 59-year-old man – clinicopathological case report. Medical Studies/Studia Medyczne. 2016;32(4):291-293. doi:10.5114/ms.2016.64702. APA Dernoga, E., Rospond-Kubiak, I., Kocięcki, J., & Marszałek, A. (2016). Conjunctival metastasis of a renal cell carcinoma in a 59-year-old man – clinicopathological case report. Medical Studies/Studia Medyczne, 32(4), 291-293. https://doi.org/10.5114/ms.2016.64702 Chicago Dernoga, Ewa, Iwona Rospond-Kubiak, Jarosław Kocięcki, and Andrzej Marszałek. 2016. "Conjunctival metastasis of a renal cell carcinoma in a 59-year-old man – clinicopathological case report". Medical Studies/Studia Medyczne 32 (4): 291-293. doi:10.5114/ms.2016.64702. Harvard Dernoga, E., Rospond-Kubiak, I., Kocięcki, J., and Marszałek, A. (2016). Conjunctival metastasis of a renal cell carcinoma in a 59-year-old man – clinicopathological case report. Medical Studies/Studia Medyczne, 32(4), pp.291-293. https://doi.org/10.5114/ms.2016.64702 MLA Dernoga, Ewa et al. "Conjunctival metastasis of a renal cell carcinoma in a 59-year-old man – clinicopathological case report." Medical Studies/Studia Medyczne, vol. 32, no. 4, 2016, pp. 291-293. doi:10.5114/ms.2016.64702. Vancouver Dernoga E, Rospond-Kubiak I, Kocięcki J, Marszałek A. Conjunctival metastasis of a renal cell carcinoma in a 59-year-old man – clinicopathological case report. Medical Studies/Studia Medyczne. 2016;32(4):291-293. doi:10.5114/ms.2016.64702.

Corneal xanthogranuloma in association with multiple endocrine neoplasia 1: A clinicopathologic case report and review of the literature

Juvenile xanthogranuloma (JXG) is a benign inflammatory condition of uncertain pathogenesis. It is characterized by skin and ocular involvement – typically in the iris – in children. It has been reported in older age groups and has been also observed to involve other ocular structures such as the cornea and conjunctiva.In this case report, we are presenting an extensive right eye corneal lesion in a 43-year old male which showed the typical histopathological feature of JXG and in association with multiple endocrine neoplasia (type 1). Similar cases in the English-language literature have been also reviewed.

Gorlin Goltz syndrome: A clinicopathological case report

The Gorlin-Goltz syndrome is an infrequent multisystemic disease, which is inherited in an autosomal dominant manner. This shows a high level of penetrance and variable expressiveness, characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and / or plantar pits, calcification of the falx cerebri, and is occasionally associated with internal malignancies. It is fundamental to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome. Here we report a case of a 30-year-old male with major and minor features of the Gorlin-Goltz syndrome, such as, strabismus, barrel-shaped chest, with drooping shoulders and mild kyphosis, polydactyly, hypertelorism, multiple basal cell carcinomas, calcification of the falx cerebri, C5-C7 bifida spine, and fusion of T1 and T2.

Acanthamoeba keratitis: A clinicopathologic case report and review of the literature

The immune response elicited by corneal Acanthamoeba infection remains incompletely understood. The infected cornea removed from a patient with Acanthamoeba keratitis during therapeutic penetrating keratoplasty was analyzed by immunohistochemistry. Heavy infiltration of neutrophils and, to a lesser extent, macrophages was observed throughout the cornea with both cell types in direct apposition to Acanthamoeba parasites. While T and B cells were identified in the corneal stroma, none were seen in direct proximity to Acanthamoeba parasites. Natural killer (NK) cells were absent from the cornea. These results demonstrate that neutrophils and macrophages of the innate immune system predominate in the host response against Acanthamoeba infection of the human cornea, confirming the relevance of animal models of Acanthamoeba keratitis that recapitulate these findings. Lymphocytes appear to be excluded from regions of the cornea containing Acanthamoeba parasites, despite the presence of a corneal lymphocytic response in this case, suggesting inhibition of lymphocyte chemotaxis toward the parasite.

Infestation of the lacrimal sac by Rhinosporidium seeberi: A clinicopathological case report

Rhinosporidium seeberi, till recently known as a fungus, has been reclassified as a protistan parasite. It infects humans and many animal species. The authors describe a rare case of oculosporidiosis with involvement of the lacrimal sac exhibiting features of idiopathic orbital inflammatory disease in a young male patient. Clinical features, pathophysiology, and management of lacrimal sac rhinosporidiosis have been discussed.

Epithelial Downgrowth: An Atypical Clinicopathological Case Report

Epithelial Downgrowth: An Atypical Clinicopathological Case Report

Sympathetic ophthalmia in HIV infection. A clinicopathological case report

BackgroundThe purpose of this study is to report a case of sympathetic ophthalmia (SO) in an HIV-infected patient on treatment with highly active antiretroviral therapy (HAART) 9 years after a penetrating eye injury.MethodsThe study utilized clinical course and histopathological findings.ResultsHistopathology of the enucleated right eye showed a predominantly lymphocytic inflammatory infiltration with some plasma cells and epithelioid granulomata in the choroid, suggesting the diagnosis of SO.ConclusionsSO seems to be driven by T lymphocytes, specifically by the CD4 subset of T cells. HIV-infected individuals suffer a decline in CD4 T cell numbers, leading to an acquired immunodeficiency that could halt the development of the inflammatory reaction responsible for SO. The restoration of the CD4 counts by HAART therapy makes HIV-infected individuals as susceptible to SO as non-infected ones. To the best of our knowledge, there are no cases of SO in HIV-infected patients reported in the literature.

Metastatic Choroidal Paraganglioma

To describe a patient with metastatic choroidal paraganglioma that was locally controlled with radiotherapy. Interventional clinicopathologic case report. One patient with metastatic choroidal paraganglioma. Interventional clinicopathologic case report and systematic search of the literature. Description of clinicopathologic features, treatment methods, and outcome. A 50-year-old man had a nonpigmented atypical choroidal mass with secondary retinal detachment in the left eye. After incisional biopsy, the diagnosis of paraganglioma was established. Metastatic work-up revealed vertebral, mediastinal, and pulmonary metastases of a nonsecretory, malignant paraganglioma without tracer uptake. The primary tumor was not identified. The ocular tumor regressed after stereotaxic radiotherapy. Two years later, recurrent lesions developed in the contralateral eye, which also was irradiated. Malignant paraganglioma can metastasize in the choroid and should be included in the differential diagnosis of a nonpigmented choroidal mass. Stereotaxic radiation therapy is an effective treatment method. To the authors' knowledge, this is the first report of a patient with choroidal paraganglioma. The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Adenocarcinoma of the retinal pigment epithelium: clinicopathological case report

AbstractPurpose Adenocarcinomas of the retinal pigment epithelium (RPE) are rare adult tumors, treated with enucleation or surgical excision. We present a child with an adenocarcinoma of RPE, treated with protontherapy.Methods A 10‐year‐old girl with loss of vision had a pigmented macular tumor, diagnosed as hamartoma. Five years later, tumor growth led to a transvitreal incisional biopsy.Results Histopathology and immunohistochemistry were compatible with an adenocarcinoma of the RPE. The tumor was irradiated. After 5 years of follow‐up, the tumor is under control and the patient presents no distant metastases.Conclusion Adenocarcinomas of the RPE can simulate a combined hamartoma of the retina and RPE. Diagnosis can only be established after biopsy. Protontherapy is a valid therapeutic alternative.