scholarly journals Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Jessica Pugh ◽  
R. Keith Huffaker

A 22-year-old nulligravid white female with Angelman syndrome was noted to have a 4-month history of premenstrual nausea, vomiting, and abdominal pain. She had an echogenic focus in her bladder noted on ultrasound. She was diagnosed with low grade urothelial carcinoma after cystoscopic evaluation with biopsy and was sent to urology for further treatment. Urothelial carcinoma is rare in individuals younger than age 40. Patients may present with gross hematuria. There is often a delay in diagnosis in younger individuals with different genetic mutations noted upon diagnosis.

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S121-S121
Author(s):  
Muhammad Masood Hassan ◽  
Tammey Naab ◽  
Ali Afsari

Abstract Objectives Low-grade papillary urothelial carcinoma (LGUC) has overall a preserved orderly appearance, minimal variability in architecture, and lack of significant cytologic atypia and mitotic activity without pleomorphism. A total of 53.8% of LGUC cases recur with 18.3% progression to high-grade UC. Even focal HGUC in LGUC can be a harbinger of progression. Accurate pathological interpretation is paramount in predicting recurrence and determining treatment. Methods A 63-year-old male with a past medical history of coronary artery disease, benign prostate hyperplasia, and obesity was referred to urology with a chief complaint of chronic hematuria. Cystoscopy with transurethral resection of bladder tumor was performed, which revealed mainly LGUC with focal high-grade-appearing UC. Results Histologic sections revealed papillary architecture with fused fronds, low-grade nuclear atypia, and scattered mitoses comprising 95% of the tissue submitted. No muscular wall invasion by carcinoma was seen. However, in one section, collections of large cells with well-defined cytoplasmic borders, multinucleation, and rare nuclear grooves were identified. The morphology raised the suspicion of a focal HGUC. Diffuse expression of CK20 and low Ki-67 proliferation index (1%) favored umbrella cells. Conclusion Our case reinforces the fact that sectioning can reveal foci, suspicious for HGUC, especially in urothelium. However, proper interpretation of morphology combined with the help of immunohistochemistry aids in accurate diagnosis, which is critical in determining proper clinical management of the patient.


2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Daisaku Hirano ◽  
Toshiyuki Yoshida ◽  
Daigo Funakoshi ◽  
Fuminori Sakurai ◽  
Shou Ohno ◽  
...  

Carcinosarcomas of the urinary bladder are rare biphasic neoplasms, consisting of both malignant epithelial and malignant mesenchymal components, and the prognosis of this tumor is unfavorable in most patients with even possibility of resection of disease. A 77-year-old male with a history of transurethral resection (TUR) of urothelial carcinoma (UC) of the bladder and adjuvant intravesical chemotherapy with pirarubicin 10 years ago revisited our department with a gross hematuria. Cystoscopy demonstrated an approximately 2.5 cm nonpapillary tumor on the right wall of the bladder. Pelvic MRI showed the tumor without extending the base of the bladder wall. The tumor could be completely removed with TUR. The malignant epithelial elements consisted of high-grade UC and the majority of mesenchymal components were fibrosarcomatous differentiation based on immunohistochemical studies. The tumor could be pathologically also suspected to be an early stage on TUR specimens. Although he has received no additional intervention due to the occurrence of myocardial infarction at three weeks after the TUR, he has been alive with no evidence of recurrence of the disease 27 months after the TUR. Some early stages of bladder carcinosarcoma might have a favorable prognosis without aggressive treatments.


2004 ◽  
Vol 14 (4) ◽  
pp. 683-686 ◽  
Author(s):  
N. H. Dereska ◽  
J. Cornella ◽  
M. Hibner ◽  
J. F. Magrina

The ovarian remnant syndrome, a complication of bilateral salpingo-oophorectomy, is progressively receiving more attention in the gynecological surgery literature. The syndrome is manifested by pelvic pain and a palpable or sonographic finding of a pelvic mass. However, in rare cases, patients can present with large masses and radiographic suggestion of malignancy. We present the case of a 76-year-old white female, 23 months after bilateral salpino-oophorectomy at the same institution, complaining of 3.5 months of right flank and abdominal pain. Clinical and radiological evidence of a right ovarian remnant was discovered. Subsequent laparoscopic resection was consistent with a well-encapsulated mucinous adenocarcinoma in a right ovarian remnant. Curiously, this patient had no history of endometriosis, dense pelvic adhesions, pelvic inflammatory disease, or difficulty encountered during the original hysterectomy. This is the seventh published case report in the international literature about carcinoma developing in an ovarian remnant. However, this case differs in that the patient had no preexisting gynecologic conditions at the time of hysterectomy and bilateral salpingo-oophorectomy to account for residual ovarian tissue. Additionally, the oophorectomy was performed vaginally, in contrast to multiple previous case reports.


2021 ◽  
pp. 106689692110324
Author(s):  
Fengming Chen ◽  
Shreyas Joshi ◽  
Bradley C. Carthon ◽  
Adeboye O. Osunkoya

Primary urothelial carcinoma (UCa) of the urethra is relatively uncommon, and the underlying pathogenesis has not been well characterized, especially in the absence of concurrent UCa at other sites. A search for cases of primary UCa of the urethra was conducted. Patients with concurrent UCa of the renal pelvis, ureter, or bladder at the time of diagnosis of the primary tumor were excluded. Clinicopathologic and follow-up data were obtained. A total of 35 cases from 30 patients (27 male and 3 female) were included in the study. The mean patient age at the initial diagnosis was 71 years (range: 41-90 years). Cases were composed of high-grade UCa (26 of 35 = 74%), low-grade UCa (4 of 35 = 11%), and UCa in situ (5 of 35 = 14%). Invasion was present in 14 of 26 (54%) cases of high-grade UCa. Interestingly, 23 of 30 (77%) patients had a previous history of UCa including 7 (30%) cases with divergent differentiation or variant histology. Follow-up data were available in 23 patients with a mean duration of 26.7 months (range: 0.6-87 months). Eleven patients (31%) died of metastatic UCa. This is one of the largest studies to date of primary UCa of the urethra without concurrent UCa of the renal pelvis, ureter, or bladder. Previous history of UCa of the bladder, especially with divergent differentiation or variant histology is conceivably a key risk factor for developing subsequent primary UCa of the urethra. These findings are important for the development of surveillance protocols and therapeutic strategies.


2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Walquiria Quida Salles Pereira Primo ◽  
Guttenberg Rodrigues Pereira Primo ◽  
Dunya Bachour Basilio ◽  
Karime Kalil Machado ◽  
Jesus Paula Carvalho ◽  
...  

Abstract Background Vulvar extramammary Paget disease is a rare chronic condition, that presents with non-specific symptoms such as pruritus and eczematous lesions. Because most of these lesions are noninvasive, the distinction between primary and secondary Paget disease is crucial to management. Case presentation We report an unusual case of vulvar Paget disease associated with massive dermal vascular embolization, cervicovaginal involvement and metastasis to inguinal and retroperitoneal lymph nodes. The intraepithelial vulvar lesion had a classical appearance and was accompanied by extensive component of dermal lymphovascular tumor emboli, similar to those observed in inflammatory breast carcinoma. Immunohistochemical analysis revealed that the lesion was secondary to high-grade urothelial cell carcinoma. The patient had a history of superficial low-grade papillary urothelial carcinoma of the bladder, which had appeared 2 years before the onset of vulvar symptoms. Conclusions Eczematoid vulvar lesions merit careful clinical examination and biopsy, including vulva mapping and immunohistochemistry. The information obtained may help to define and classify a particular presentation of Paget disease. Noninvasive primary lesions do not require the same aggressive approaches required for the treatment of invasive and secondary disease.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Liang Qian ◽  
Xue Wang ◽  
Dingheng Li ◽  
Songyi Li ◽  
Jiashan Ding

Abstract Background Isolated fallopian tube torsion (IFTT) is a rare cause of gynecological acute abdomen, is easily misdiagnosed and often has a delay in diagnosis. IFTT with paraovarian cysts is most frequently reported in studies. Here, we reported a patient diagnosed with IFTT associated with a paraovarian cyst, and we conducted a literature review for IFTT, aiming to identify valuable information that will be helpful for diagnosis and treatment for fallopian tube torsions. Case presentation A 13-year-old girl presented with a 10-day history of right lower abdominal pain that worsened 2 days before presentation. On presentation, ultrasound showed a 5.8 * 5.5 cm hypoechoic cyst adjacent to the right ovary, and between the cyst and ovary, a tortuous thickened tube was visualized. Laparoscopy revealed a triple torsion of the right fallopian tube with a 6-cm paraovarian cyst, and tubal conservation surgery was performed. The postoperative course was uneventful. Histopathological diagnosis revealed serous papillary cystadenoma. Conclusion Paraovarian cystic dilatation often occurs in adolescence and can induce fallopian torsion when the size of the cyst reaches 5-cm. In our review, the median age of patients diagnosed with IFTT with paraovarian cysts was 15 years old, and the main clinical manifestation was emergency abdominal pain. The associated symptoms were variable, and vomiting was the most commonly associated symptom. Salpingectomy was the most common procedure performed; however, timely surgical intervention can effectively avoid salpingectomy.


2019 ◽  
Vol 2 (1) ◽  
Author(s):  
Abdu Hamisu Dambatta

Patients affected with sickle cell disease (SCD) suffer from recurrent vascular occlusions that lead to ischemia and distal tissue infarction in multiple organs. These vascular occlusions manifest as sickle cell pain crises. Abdominal pain is common in sickle cell pain crises. It is attributed to vasoocclusion or infarction in the mesenteric vasculature. Progression to significant ischemic damage of the intestine is rare in sickle cell disease. The objective was to show the rare case of ischemic colitis in SCD patient. The patient’s images (plain abdominal x rays and barium enema images) and case file were reviewed and summarized. The subject matter of ischemic colitis in a known SCD was reviewed in the literature. The index case was discussed and compared with literature. We report an 18-year-old known SCD patient diagnosed since childhood but not regular on medication and follow up. The patient presented to SCD clinic of Aminu Kano Teaching Hospital (AKTH), Kano with 2-year history of recurrent blood stained and watery stool associated with abdominal pain and low-grade fever. There was history of easy fatigability and multiple blood transfusions in the past. Other systemic reviews were unremarkable. This man is the only sickle cell anemic child among 9 other siblings of the family, and on presentation, a second-year student of a junior secondary school. Examination revealed a stunted young man, mild pale with a tinge of jaundice. Abdominal examination revealed hepatomegaly 4 cm below the costal margin. The spleen was not enlarged. Other systemic reviews were unremarkable. Latest hemoglobin was 5.7 g/dL. Renal and the liver function tests were normal. Stool microscopy did not isolate ova, cyst or protozoa. Barium enema was then requested and showed loss of haustration and cobblestone appearance involving the entire colon. Fine mucosal granulations were also noted in the rectum. Diagnosis of colitis most probably ischemic was made. The patient was commenced on analgesics and antibiotics including azithromycin and metronidazole and made significant improvement. Ischemic colitis in SCD may still be encountered in practice despite its rarity.


2021 ◽  
Vol 8 (4) ◽  
pp. 65-68
Author(s):  
Syed Sajid Hussain Shah ◽  
Yousaf Aziz Khan ◽  
Bibi Aalia

Malrotation of the gut can present at any age but the majority of patients present in neonatal period or early infancy. Most children present with a history of recurrent colicky abdominal pain, vomiting which can be bilious and failure to thrive. Delay in diagnosis leads to increase in mortality and morbidity. Here we present a series of three patients, one girl aged 6 years, one 10 months old boy and one 10 years old boy, who got admitted at our Pediatric Department in a one month period. Patients had a history of recurrent abdominal pain and occasional vomiting, seen and managed by multiple paediatricians and GP doctors with extensive diagnostic workup but never the accurate diagnosis was made. Thorough history was taken and examination done, planned work up done for diagnosis. High index of suspicion is needed in children presenting with recurrent pain in the abdomen. Targeted work-up should be done and patients be kept on follow-up for diagnosis of late presentation of congenital malrotation of the gut.


Author(s):  
Melinda L. Estes ◽  
Samuel M. Chou

Many muscle diseases show common pathological features although their etiology is different. In primary muscle diseases a characteristic finding is myofiber necrosis. The mechanism of myonecrosis is unknown. Polymyositis is a primary muscle disease characterized by acute and subacute degeneration as well as regeneration of muscle fibers coupled with an inflammatory infiltrate. We present a case of polymyositis with unusual ultrastructural features indicative of the basic pathogenetic process involved in myonecrosis.The patient is a 63-year-old white female with a one history of proximal limb weakness, weight loss and fatigue. Examination revealed mild proximal weakness and diminished deep tendon reflexes. Her creatine kinase was 1800 mU/ml (normal < 140 mU/ml) and electromyography was consistent with an inflammatory myopathy which was verified by light microscopy on biopsy muscle. Ultrastructural study of necrotizing myofiber, from the right vastus lateralis, showed: (1) degradation of the Z-lines with preservation of the adjacent Abands including M-lines and H-bands, (Fig. 1), (2) fracture of the sarcomeres at the I-bands with disappearance of the Z-lines, (Fig. 2), (3) fragmented sarcomeres without I-bands, engulfed by invading phagocytes, (Fig. 3, a & b ), and (4) mononuclear inflammatory cell infiltrate in the endomysium.


2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.


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