scholarly journals Preoperative diagnosis of a “humanoid” fetus in fetu using multimode ultrasound: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Hualin Yan ◽  
Juxian Liu ◽  
Yan Luo ◽  
Yang Wu ◽  
Lanxin Du
Keyword(s):  
Case Report ◽  
Blood Supply ◽  
Preoperative Diagnosis ◽  
Color Doppler ◽  
Neuron Specific Enolase ◽  
Color Doppler Flow Imaging ◽  
Fetus In Fetu ◽  
Abdominal Tumors ◽  
First Case ◽  
The Relationship

Abstract Background Fetus in fetu (FIF) is a rare congenital anomaly. The preoperative diagnosis of FIF and differentiating it from teratoma and other abdominal tumors can be challenging for radiologists. Clarification of the blood supply and the relationship with the surrounding vessels is especially helpful for successful surgery; however, multimode ultrasound (US) performed for FIF has rarely been explored. Here, we first report a “humanoid” FIF case diagnosed by multimode US examinations, with the use of contrast-enhanced ultrasound (CEUS) for clarifying the blood supply features. Case presentation A 25-day-old preterm male infant was referred to our hospital for surgery. The US and computed tomography (CT) examinations led to a diagnosis of teratoma at the local hospital. The laboratory workup at our hospital revealed an elevation of total bilirubin, direct bilirubin, indirect bilirubin, alpha-fetoprotein, and neuron-specific enolase levels. A precise diagnosis and differentiation from teratoma, hepatoblastoma, neuroblastoma and other abdominal tumors were needed. In addition, the blood supply and the relationship with the surrounding vessels needed clarification prior to surgery. Multimode US examinations were performed and the features of a “humanoid” FIF as well as the blood supply for the abdominal lesion of the infant were suggested by grayscale US, color Doppler flow imaging (CDFI), and CEUS. Furthermore, CDFI and CEUS revealed an aorta-like structure and umbilical cord-like blood vessels in the “humanoid” FIF, and the CEUS helped with marking the surface of the infant’s abdominal wall. To the best of our knowledge, this is the first case report of CEUS in FIF, and the blood supply was clearly demonstrated in the FIF. The intraoperative findings confirmed our multimode US findings and revealed a “humanoid” FIF. The infant quickly recovered after the operation and had no positive findings at the 2-year follow-up visit. Conclusions Multimode US was helpful in diagnosing the rare FIF without radiation exposure. Specifically, CEUS clearly demonstrated the limb branch vessel-like structures, the abdominal aorta-like structure and the blood supply, which was useful for the FIF diagnosis and for avoiding damage to important vessels during the operation.

scholarly journals Preoperative diagnosis of a mediastinal granular cell tumor by EUS-FNA : A case report and review of the literature

CytoJournal ◽  
2005 ◽  
Vol 2 ◽  
pp. 8 ◽  
Author(s):  
Sarah M Bean ◽  
Mohamad A Eloubeidi ◽  
Isam A Eltoum ◽  
Robert J Cerfolio ◽  
Darshana N Jhala
Keyword(s):  
Case Report ◽  
Preoperative Diagnosis ◽  
Granular Cell Tumor ◽  
English Literature ◽  
Granular Cell ◽  
Needle Aspiration ◽  
Cell Tumor ◽  
Prior History ◽  
Cell Block ◽  
First Case

We report the first case of a posterior mediastinal granular cell tumor initially diagnosed on cytologic material obtained via endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) in a 51-year-old male with a prior history of colon cancer. Aspirates obtained were cellular and composed of polygonal cells with abundant granular cytoplasm and small, round dark nuclei. An immunoperoxidase stain performed on the cell block for antibodies to S-100 protein showed strong, diffuse staining of the cytoplasmic granules. Electron microscopy performed on the cell block revealed numerous cytoplasmic lysosomes. This is the first case report in the English literature of a definitive preoperative diagnosis of a mediastinal granular cell tumor utilizing material obtained via EUS-FNA.

scholarly journals Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Mashu Futagawa ◽  
Hideki Yamamoto ◽  
Mariko Kochi ◽  
Yusaku Urakawa ◽  
Reimi Sogawa ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Splice Variant ◽  
Protein Production ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Acceptor Site ◽  
Splicing Variant ◽  
First Case ◽  
The Relationship

Abstract Background RAD51D (RAD51 paralog D) is an intermediate cancer susceptibility gene for primary ovarian cancer, including fallopian tube and peritoneal carcinomas and breast cancer. Although gynecological non-epithelial tumors such as uterine sarcomas are associated with genomic instability, including BRCA impairment, there is no clear evidence of the relationship between RAD51D variants and the risk of sarcoma development. Case presentation A Japanese woman in her 50s underwent multiple surgical resections and several regimens of chemotherapy for tumors that originated in the retroperitoneum and recurred in the peritoneum over a clinical course of approximately 4 years. The peritoneal tumor was histologically diagnosed as a leiomyosarcoma and was genetically identified to show a splice variant of RAD51D c.904-2A > T [NM_002878] through tumor profiling performed as a part of cancer precision medicine. The confirmatory genetic test performed after genetic counseling revealed that the RAD51D splicing variant detected in her tumor was of germline origin. In silico analyses supported the possible pathogenicity of the detected splice variant of RAD51D with a predicted attenuation in mRNA transcription and truncated protein production due to frameshifting, which was attributed to a single-nucleotide alteration in the splicing acceptor site at the 3′-end of intron 9 of RAD51D. Considering her unfavorable clinical outcome, which showed a highly aggressive phenotype of leiomyosarcoma with altered RAD51D, this case provided novel evidence for the relationship of a RAD51D splicing variant with malignant tumor development or progression. We report the findings of this rare case with possible involvement of the germline variant of RAD51D c.904-2A > T as a potential predisposing factor for malignant tumors, including leiomyosarcoma. Conclusions We present the findings of a case of leiomyosarcoma in the peritoneum of a female patient with a novel germline splicing variant of RAD51D as potential evidence for the pathogenicity of the variant and its involvement in the risk of sarcoma etiology and/or development. To the best of our knowledge, this is the first case report describing a leiomyosarcoma carrying a germline RAD51D splicing variant and elucidating its pathogenicity on the basis of computational prediction of the impairment of normal transcription and the presumed loss of functional protein production.

Islet Cell Tumor in a Neonate: Diagnosis by Selective Angiography and Histological Findings

PEDIATRICS ◽  
1978 ◽  
Vol 61 (5) ◽  
pp. 790-791
Author(s):  
John Kirkland ◽  
Yoram Ben-Menachem ◽  
Mohammad Akhtar ◽  
Robert Marshall ◽  
Stanley Dudrick
Keyword(s):  
Case Report ◽  
Preoperative Diagnosis ◽  
Islet Cell ◽  
Islet Cell Tumor ◽  
Cell Tumor ◽  
Histological Findings ◽  
Selective Angiography ◽  
Apgar Scores ◽  
First Case ◽  
The One

Congenital islet cell adenomas of the pancreas are rare. Fewer than 20 cases have been documented.1,2 The purpose of this article is to present what we believe is the first case in which a preoperative diagnosis of an insulinoma was established by selective angiography in a neonate and to describe the histological findings. CASE REPORT A girl weighing 2,759 gm was the product of a normal 38-week pregnancy with an uncomplicated labor and delivery. The one- and five-minute Apgar scores were 8 and 9. At 19 hours of age she was observed to be cold, pale, and diaphoretic. A sepsis evaluation was initiated.

scholarly journals Sarcoidosis Developing During Secukinumab Therapy: Case Report

2017 ◽  
Vol 1 (2) ◽  
pp. 95
Author(s):  
Timothy Nyckowski ◽  
Roger Ceilley ◽  
Joshua Wilson
Keyword(s):  
Case Report ◽  
Psoriatic Arthritis ◽  
Side Effect ◽  
Pulmonary Involvement ◽  
Unknown Etiology ◽  
Systemic Involvement ◽  
First Case ◽  
Relationship Of ◽  
The Relationship

Introduction: Sarcoidosis is a systemic granulomatous inflammatory disease with an unknown etiology and complex pathogenesis. Existing literature supports the relationship of new-onset sarcoidosis with the use of a several biologic agents. Since the skin is the second most commonly involved organ in sarcoidosis and often precedes systemic involvement, dermatologists must be able to recognize its non-specific clinical presentation.Case Report: We present a 45 year old female with psoriatic arthritis who developed biopsy proven cutaneous sarcoidal granulomas with pulmonary involvement shortly after initiating secukinumab for treatment of psoriatic arthritis. Despite discontinuation of secukinumab, the sarcoidosis has persisted.Discussion: This is the first case report of secukinumab, or any IL-17 inhibitor related sarcoidosis that we are aware of in the literature. Dermatologists should be aware of this as a possible side effect of secukinumab use. As the research on the role of IL-17 in the pathogenesis of sarcoidosis continues to develop, the implications of this side effect of IL-17 inhibition may have important future implications.

scholarly journals Primary Adrenal Squamous Cell Carcinoma in a Single Kidney Patient: Case Report and Review of Literature

2019 ◽  
Vol 120 (1) ◽  
pp. 24-29
Author(s):  
Mehdi Kardoust Parizi
Keyword(s):  
Squamous Cell Carcinoma ◽  
Case Report ◽  
Adrenal Gland ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Left Kidney ◽  
Neuron Specific Enolase ◽  
Pathology Report ◽  
Positive Staining ◽  
First Case

The adrenal gland is a common metastatic site of squamous cell carcinoma (SCC), however primary adrenal SCC has not been reported in literature. In this case report, we presented the first case of primary adrenal SCC. A 53-year-old man presented with chronic right flank pain. Abdominopelvic computed tomography (CT) confirmed left kidney agenesis and a soft tissue density mass measuring about 40×30 mm in the right adrenal gland. Adrenal functional assessment including metanephrine, normetanephrine and vanillyl mandelic acid were normal. The patient underwent surgical resection of right adrenal mass. Pathology report revealed adrenal SCC. Immunohistochemistry evaluation demonstrated positive staining for P63, CK, CD10, CK7, chromogranin, neuron specific enolase, and negative staining for alpha-inhibin, neurofilament, CK20, and tyrosine hydroxylase that were compatible with SCC. All other assessments to find primary site of SCC including upper and lower gastro-intestinal endoscopy, chest CT scan, positron emission tomography scan, and bronchoscopy demonstrated normal findings. To our knowledge, this is the first case of primary adrenal SCC without any evidence of metastatic nature of such adrenal involvement by SCC.

scholarly journals Case of Vaccine-Associated Fibrosarcoma (VAS), Related to Aluminium, in a Cat

2019 ◽  
Vol 39 (04) ◽  
Author(s):  
Fulya Altinok-Yipel ◽  
Nuri Altug ◽  
Sevda Inan
Keyword(s):  
Case Report ◽  
Tumor Tissue ◽  
Histopathological Examination ◽  
Tumor Development ◽  
Thoracic Vertebrae ◽  
Protective Measures ◽  
First Case ◽  
Subcutaneous Mass ◽  
The Relationship ◽  
Scanning Electron

An 11-year-old, male, crossbreed cat was presented for a subcutaneous mass affecting the prescapular region extending to the thoracic vertebrae. The diagnosis of fibrosarcoma was made according to the histopathological examination of the biopsy. Scanning electron microscopy (SEM-EDX) was used to determine the presence of aluminium in the tumor tissue. The owner did not accept further treatment, so the cat died 1 month after diagnosis. This is the first case report from Turkey which diagnoses verified by SEM and has shown that aluminium-containing vaccines may be associated with fibrosarcoma formation. Awareness of the side effects of adjuvants is still not enough level. Determining the frequency of VAS in fibrosarcoma cases will contribute to the increase of life span/survival by protective measures. The aim of this case report is to draw attention to the adjuvant contents of the vaccines and to scrutinize the relationship between vaccine applications and tumor development.

scholarly journals Orbital Varix Diagnosed by Color Doppler Flow Imaging —Case Report—

1997 ◽  
Vol 37 (8) ◽  
pp. 616-619 ◽  
Author(s):  
Shoichiro KAWAGUCHI ◽  
Hiroyuki NAKASE ◽  
Hiroshi NOGUCHI ◽  
Taiji YONEZAWA ◽  
Tetsuya MORIMOTO ◽  
...  
Keyword(s):  
Case Report ◽  
Color Doppler ◽  
Flow Imaging ◽  
Color Doppler Flow Imaging ◽  
Doppler Flow ◽  
Color Doppler Flow ◽  
Orbital Varix

Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report

2019 ◽  
Vol 24 (2) ◽  
pp. 153-158 ◽  
Author(s):  
Lauren E. Rotman ◽  
James R. Hackney ◽  
Benjamin M. McGrew ◽  
Winfield S. Fisher ◽  
Curtis J. Rozzelle
Keyword(s):  
Case Report ◽  
Intracerebral Hemorrhage ◽  
Temporal Bone ◽  
Aneurysmal Bone Cyst ◽  
Developmental Disorder ◽  
Bone Cyst ◽  
First Case ◽  
Cardiofaciocutaneous Syndrome ◽  
Secondary Aneurysmal Bone Cyst ◽  
The Relationship

Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS. The relationship between malignancy risk and CFCS is unclear with few cases published in the literature. The purpose of this paper is to describe the case of a patient with CFCS presenting in extremis as a result of a large intracerebral hemorrhage arising from a temporal bone mass with histopathology most consistent with chondroblastoma and secondary aneurysmal bone cyst. This is the first case to document an association between CFCS and chondroblastoma.

Angiocentric T-Cell Lymphoma of the Tonsil: A Case Report

1996 ◽  
Vol 75 (5) ◽  
pp. 309-311 ◽  
Author(s):  
Lisa K. Helfend ◽  
Howard I. Finkle ◽  
Harvey M. Freedman
Keyword(s):  
Case Report ◽  
T Cell ◽  
Cell Lymphoma ◽  
T Cell Lymphoma ◽  
Barr Virus ◽  
First Case ◽  
Epstein Barr ◽  
Immunodeficiency Syndrome ◽  
Relationship Of ◽  
The Relationship

We present a case of an angiocentric T-cell lymphoma (ACTL) occurring in a 31-year-old woman with the Acquired Immunodeficiency Syndrome (AIDS). This patient had oropharyngeal pain, a non-healing superficially ulcerated right tonsil, and no obvious tumor mass. Initial tonsillar biopsy revealed a subtle, non-specific, perivascular lymphocytic infiltrate subjacent to an ulcerated and inflamed mucosal lining. A benign, although atypical, inflammatory process was suspected. The distinctive features in this case include the relationship of ACTL to the Epstein-Barr Virus (EBV), which is usually related to B-cell lymphoproliferative disorders, the unique non-midline location of the lesion, and the relationship of ACTL to AIDS. ACTL appears to represent a unifying pathologic entity encompassing formerly described angioinvasive lymphoid lesions including polymorphic reticulosis, midline lethal granuloma, and lymphomatoid granulomatosis. We present these subtle histopathologic features to alert otolaryngologists who may encounter these cases, especially in AIDS patients who present extensive diagnostic possibilities. To the best of our knowledge, this is the first case report of ACTL involving the tonsil.

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