Valosin Containing Protein Associated Fronto-Temporal Lobar Degeneration: Clinical Presentation, Pathologic Features and Pathogenesis

Problem To report the rare occurrence of a yolk sac tumor of the nose and nasopharynx presenting as acute sinusitis and bilateral complete blindness. Methods The clinical presentation, pathologic features, and management of this 2-year-old infant girl is reviewed. We also performed a medical literature search in English using PUBMED and OVID databases. We then analyzed the literature with respect to clinical presentation, manifestations and therapies for other extra-gonadal yolk sac tumors presenting in the head and neck. Results The patient was treated with 4 courses of high dose cis-platinum, etoposide, bleomycin repeated every 3 weeks along with surgery. She had initial mild improvement in visual perception along with shrinkage of her tumor. The yolk sac malignancies of the head and neck are often, large, aggressive lesions on presentation that once treated have a tendency to recur. Conclusion Yolk sac tumors (endodermal sinus tumors) represent 3–5% of pediatric malignancies. They are rare malignancies in the head and neck, of germ cell origin. Successful treatment usually requires a combination of chemotherapy and surgical extirpation followed by postoperative chemotherapy. Significance Recurrent sinusitis and nasal obstruction in children should be evaluated carefully and with a high level of suspicion for rare nasal and nasopharyngeal malignancies. Early diagnosis and prompt treatment may alleviate many of the presenting symptoms and prolong life.

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Teppanyaki/Hibachi Pneumonitis: An Exotic Cause of Exogenous Lipoid Pneumonia

Case Reports in Pulmonology ◽

10.1155/2016/1035601 ◽

2016 ◽

Vol 2016 ◽

pp. 1-5

Author(s):

Franck Rahaghi ◽

Ali Varasteh ◽

Roya Memarpour ◽

Basheer Tashtoush

Keyword(s):

Clinical Presentation ◽

Asian Woman ◽

Body Type ◽

Rare Type ◽

Lipoid Pneumonia ◽

Radiographic Findings ◽

Insidious Onset ◽

Pathologic Features ◽

Lung Biopsies ◽

High Index Of Suspicion

Exogenous lipoid pneumonia (ELP) is a rare type of inflammatory lung disease caused by aspiration and/or inhalation of fatty substances and characterized by a chronic foreign body-type reaction to intra-alveolar lipid deposits. The usual clinical presentation occurs with insidious onset of nonspecific respiratory symptoms and radiographic findings that can mimic other pulmonary diseases. Diagnosis of ELP is often missed or delayed as it requires a high index of suspicion and familiarity with the constellation of appropriate history and radiologic and pathologic features. We herein report a case of occupational exposure to tabletop “Teppanyaki” entertainment cooking as a cause of ELP, confirmed by surgical lung biopsies in a 63-year-old Asian woman who worked as a Hibachi-Teppanyaki chef for 25 years.

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HHV8/EBV Coinfection Lymphoproliferative Disorder: Rare Entity with a Favorable Outcome

Case Reports in Hematology ◽

10.1155/2017/1578429 ◽

2017 ◽

Vol 2017 ◽

pp. 1-8 ◽

Cited By ~ 3

Author(s):

Dhouha Bacha ◽

Beya Chelly ◽

Houda Kilani ◽

Lamia Charfi ◽

Amel Douggaz ◽

...

Keyword(s):

Differential Diagnosis ◽

Lymphoproliferative Disorder ◽

Clinical Presentation ◽

B Cell Lymphoma ◽

Castleman Disease ◽

Lymphoid Cells ◽

Light Chains ◽

Pcr Analysis ◽

Pathologic Features ◽

Kappa Light Chains

HHV8/EBV-associated germinotropic lymphoproliferative disorder (GLD) is a challenging diagnosis given its rarity, the particular clinical presentation, and the lack of expression of markers usually used in establishing hematopoietic lineage. We report a new case of HHV8/EBV GLD in an immunocompetent 78-year-old woman. The diagnosis was made in an incidentally discovered lymphadenopathy. Histological examination showed a nodular lymphoid proliferation centered by aggregates of atypical plasmablastic cells admixed with small lymphoid cells. Tumor cells were strongly positive with EMA, HHV8, LMP1, CD38, CD138, and kappa light chains. They were negative with common lymphoma-associated markers (CD20, CD3, CD15, CD30, CD10, and bcl2). In situ hybridization confirmed the monotypic kappa light chains and the EBV infection (EBER+). A polyclonal pattern of Ig gene rearrangement was detected by PCR analysis. In the adjacent lymph node parenchyma, some germinal centers mimicked Castleman disease. In this case, the differential diagnosis was discussed with an early stage of large B-cell lymphoma arising in HHV8-associated multicentric Castleman disease. The clinical presentation, the immunophenotype, and the molecular results helped to make the accurate diagnosis. Through the review of the nine previously reported cases in literature, we discuss the clinical and pathologic features and the differential diagnosis of HHV8/EBV GLD.

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Carcinoid Tumors of the Urinary Tract and Prostate

Archives of Pathology & Laboratory Medicine ◽

10.5858/2006-130-1693-ctotut ◽

2006 ◽

Vol 130 (11) ◽

pp. 1693-1706 ◽

Cited By ~ 7

Author(s):

Rajmohan Murali ◽

Kenneth Kneale ◽

Nestor Lalak ◽

Warick Delprado

Keyword(s):

Urinary Tract ◽

English Language ◽

Clinical Presentation ◽

Accurate Diagnosis ◽

Carcinoid Tumors ◽

Data Sources ◽

Metastatic Carcinoid ◽

Pathologic Features ◽

Histopathologic Features ◽

Language Literature

Abstract Context.—Carcinoid tumors are exceedingly rare in the genitourinary tract and may occur in the kidney, urinary bladder, urethra, or prostate. Objective.—To review the clinical and pathologic features of carcinoid tumors occurring in the urinary tract and prostate. Data Sources.—We searched the English language literature using MEDLINE and Ovid. Conclusions.—Carcinoid tumors of the urinary tract and prostate share similar morphologic features with their counterparts in other organs. The differential diagnosis includes metastatic carcinoid tumor, paraganglioma, and nested variants of urothelial and prostatic carcinomas. Correlation of the clinical presentation and histopathologic features (including the immunohistochemical profile) will ensure accurate diagnosis of these rare tumors.

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Ductal Carcinoma In Situ: The Impact of Screening on Clinical Presentation and Pathologic Features

The Breast Journal ◽

10.1046/j.1524-4741.1998.430146.x ◽

1998 ◽

Vol 4 (3) ◽

pp. 146-151 ◽

Cited By ~ 10

Author(s):

Sonal Pandya ◽

Gasan Mackarem ◽

Arthur K.C. Lee ◽

Robert McLellan ◽

Gerald J. Heatley ◽

...

Keyword(s):

Ductal Carcinoma In Situ ◽

Carcinoma In Situ ◽

Clinical Presentation ◽

Ductal Carcinoma ◽

Pathologic Features ◽

The Impact

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Bone Marrow-Liver-Spleen Type of Large B-Cell Lymphoma Associated with Hemophagocytic Syndrome: A Rare Aggressive Extranodal Lymphoma

Case Reports in Hematology ◽

10.1155/2017/8496978 ◽

2017 ◽

Vol 2017 ◽

pp. 1-8 ◽

Cited By ~ 1

Author(s):

Kirill A. Lyapichev ◽

Jennifer R. Chapman ◽

Oleksii Iakymenko ◽

Offiong F. Ikpatt ◽

Uygar Teomete ◽

...

Keyword(s):

Bone Marrow ◽

B Cell ◽

Clinical Presentation ◽

Cell Lymphoma ◽

B Cell Lymphoma ◽

Aggressive Lymphoma ◽

Lymphoma Cells ◽

Large B Cell Lymphoma ◽

Pathologic Features ◽

Large B Cell

Recently, an unusual subtype of large B-cell lymphoma (LBCL) with distinctive clinicopathologic features has been recognized; it is characterized by involvement of bone marrow with or without liver and/or spleen, but no lymph node or other extranodal sites, usually associated with fever, anemia, and hemophagocytic lymphohistiocytosis (HLH). Because of this distinctive clinical presentation, it has been designated “bone marrow-liver-spleen” (BLS) type of LBCL. To date there is only one series of 11 cases of BLS type of LBCL with detailed clinical, pathologic, and cytogenetic data. Herein, we describe a case of BLS type LBCL presenting with associated HLH in a 73-year-old female. The bone marrow core biopsy showed cytologically atypical large lymphoma cells present in a scattered interstitial distribution and hemophagocytosis and infrequent large lymphoma cells were seen in the bone marrow aspirate smears. Circulating lymphoma cells were not seen in the peripheral blood smears. The patient underwent treatment with chemotherapy (R-CHOP) but unfortunately passed away 2 months after initial presentation. BLS type of LBCL is a very rare and clinically aggressive lymphoma whose identification may be delayed by clinicians and hematopathologists due to its unusual clinical presentation and pathologic features.

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Solid Pseudopapillary Neoplasm of the Pancreas - A rare entity with emphasis on the differential diagnosis.

Tropical Journal of Pathology and Microbiology ◽

10.17511/jopm.2021.i01.10 ◽

2021 ◽

Vol 7 (1) ◽

pp. 60-64

Author(s):

Dr. Sabina Khan ◽

◽

Dr. Monal Trisal ◽

Dr. Musharraf Husain ◽

Dr. Shaan Khetrapal ◽

...

Keyword(s):

Pancreatic Neoplasms ◽

Clinical Presentation ◽

Low Grade ◽

Rare Entity ◽

Solid Pseudopapillary Neoplasm ◽

Diagnostic Challenge ◽

Pathologic Features ◽

Head Of The Pancreas ◽

Periampullary Region ◽

Low Incidence

Solid Pseudopapillary Neoplasm of Pancreas (SPNP) is a rare, low-grade malignant solid-cysticneoplasm with papillary architecture. It accounts for 2% to 3% of pancreatic neoplasms and 0.9% to2.7% of exocrine pancreatic neoplasms. It occurs almost exclusively in young women and has anexcellent postsurgical curative rate. Metastasis is rare although it may be locally aggressive. Thesolid pseudopapillary neoplasm of the pancreas pose a diagnostic challenge both clinically andradiologically as it has a nonspecific clinical presentation with vague radiologic features.Histopathological evaluation and immunohistochemistry remains the gold standard in reaching adefinitive diagnosis. Due to its low incidence, the clinical and pathologic features of SPNP have notbeen extensively studied. We report a case of a 32-year-old lady with solid pseudopapillaryneoplasm of the pancreas that was suspected on abdominal CECT as a well-defined mass in theampullary-periampullary region abutting head of the pancreas and confirmed on histopathologicalevaluation with immunohistochemistry.

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The Diagnostic Dilemma of Ascites in Women

International Journal of Women’s Health Care ◽

10.33140/ijwhc.06.03.04 ◽

2021 ◽

Vol 6 (3) ◽

Keyword(s):

Clinical Presentation ◽

Demographic Data ◽

Case Series ◽

Vascular Occlusion ◽

Total Abdominal Hysterectomy ◽

Endometrial Biopsy ◽

Diagnostic Dilemma ◽

Female Patients ◽

Pathologic Features ◽

Common Clinical Presentation

Introduction: Ascites is the pathological accumulation of fluid within the peritoneal cavity. The most common causes of ascites are liver disease, vascular occlusion, congestive heart failure, pericarditis or nephrotic syndrome. We present to you case series of ascites as a common presentation in women, but each case with a different etio-pathogenesis related to gynecological benign disease. This case series highlights the importance, to consider gynecological problems among the potential differential diagnoses in women with ascites for early diagnosis and timely intervention. Methods: We identified 5 female patients older than 18 years who presented with ascites as a common clinical presentation and we reviewed their medical records to assess demographic data, clinical presentation, imaging findings, co-morbid conditions, histo-pathologic features, pharmacologic therapies and surgical intervention. Results: In all the five female patients, ascites was clinically diagnosed and confirmed with ultrasound of pelvis and abdomen. One of them noted to have pelvic tuberculosis, which was confirmed with endometrial biopsy and treated with antitubercular medication. One patient was diagnosed with adenomyosis and one other patient was diagnosed with leiomyoma, both patients were treated with total abdominal hysterectomy. One of the patients was diagnosed with endometriosis on laparotomy who was treated with gonadotrophin releasing hormone analogues. One of them was diagnosed with right sided ovarian fibroma, treated with right oophorectomy. All these patients had ascites as a common clinical presentation but with different underlying gynecological etiopathogeneses. The appropriate diagnosis and timely intervention in the above 5 cases resulted in complete resolution of symptoms. Conclusion: As a healthcare worker, initial evaluation of a female patient with ascites, should rely on a detailed history and physical examination. In women with ascites, gynecologic problems should be considered among the potential differential diagnosis for appropriate management and timely intervention.

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Congenital lung malformations: radiological findings and clues for differential diagnosis

Acta Radiologica ◽

10.1177/028418511305400901 ◽

2013 ◽

Vol 54 (9) ◽

pp. 1086-1095 ◽

Cited By ~ 5

Author(s):

Pilar Garcia-Peña ◽

Ana Coma ◽

Goya Enríquez

Keyword(s):

Differential Diagnosis ◽

Clinical Presentation ◽

Wide Spectrum ◽

Imaging Techniques ◽

Radiological Findings ◽

Imaging Evaluation ◽

Vascular Abnormalities ◽

Pathologic Features ◽

Characteristic Imaging ◽

Congenital Lung Malformations

Congenital lung malformations encompass a wide spectrum of conditions with a broadly varying clinical presentation. They are often a source of morbidity in infants and children. Their management depends on the type of malformation and its clinical presentation. Usually, the diagnosis requires an imaging evaluation. Classifications of bronchopulmonary malformations have undergone significant revision in recent years and several theories have attempted to explain their confusing pathogenesis. There are considerable degrees of overlapping and hybrid conditions are common, with interrelated malformations showing various radiologic and pathologic features. Attending to the pathophysiological mechanisms and structures involved, lung malformations can be divided into three categories: bronchopulmonary anomalies, combined lung and vascular abnormalities, and vascular anomalies. The purpose of this article is to review the current imaging techniques for evaluating lung malformations in pediatric patients and their characteristic imaging findings. Moreover, this review discusses a useful classification and offers some clues to facilitate the differential diagnosis.

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Ganglioneuroma with leiomyomatosis of the urinary bladder: A rare tumor causing frequent micturition and dysuria

Canadian Urological Association Journal ◽

10.5489/cuaj.1491 ◽

2014 ◽

Vol 8 (1-2) ◽

pp. 44 ◽

Cited By ~ 1

Author(s):

Wang Qi ◽

Min Jie ◽

Zhang Tao ◽

Xie Dongdong ◽

Wang Yi ◽

...

Keyword(s):

Urinary Bladder ◽

Computerized Tomography ◽

Clinical Presentation ◽

English Literature ◽

Surgical Excision ◽

Diagnostic Procedures ◽

Histopathologic Examination ◽

Rare Tumor ◽

Pathologic Features ◽

Frequent Micturition

We present the case of a 34-year-old female, complaining of frequent micturition and progressive dysuria. By cystoscopy and computerized tomography, we found that she had multiple submucosal protuberant lesions in the entire bladder. After surgical excision, she has thus far showed no further signs of the disease. The postoperative histopathologic examination revealed a ganglioneuroma and leiomyomatosis. Urinary bladder paraganglioma is an unusual tumour; when it is combined with leiomyomatosis, it is extremely rare. We describe the main clinical presentation, diagnostic procedures, and pathologic features. We also review the English literature.

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