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Cureus May 2024Idiopathic intracranial hypertension (IIH) or benign intracranial hypertension affects the neuro-ophthalmological system and leads to elevated intracranial pressure....
Idiopathic intracranial hypertension (IIH) or benign intracranial hypertension affects the neuro-ophthalmological system and leads to elevated intracranial pressure. Elevated opening pressure during lumbar puncture is diagnostic of IIH. Here in, we present an interesting case of a 15-year-old girl, recently immigrated and with a high BMI, presenting with recurrent fever, abdominal issues, weight loss, and other symptoms, leading to a diagnosis of pelvic inflammatory disease (PID) and HIV infection. After treatment with antibiotics (doxycycline) and antiretroviral therapy, she developed IIH, manifesting as sudden-onset headache and vision problems. MRI and lumbar puncture confirmed the diagnosis. She responded well to acetazolamide and was discharged with continued medication and follow-up appointments. This case underscores the complexity of IIH development, especially in the setting of acute HIV infection and antibiotic treatment, highlighting the need for a comprehensive diagnostic approach and multidisciplinary management.
PubMed: 38854218
DOI: 10.7759/cureus.60001 -
International Journal of Surgery Case... Jul 2024Fallopian tube cancer is a rare tumor, representing between 0.3 and 1.8 % of all malignant tumors in the gynecological sphere. Due to the proximity of the uterus and...
INTRODUCTION
Fallopian tube cancer is a rare tumor, representing between 0.3 and 1.8 % of all malignant tumors in the gynecological sphere. Due to the proximity of the uterus and ovary, the diagnosis of primary fallopian tube cancer is very difficult to establish and relies on very strict criteria. The endometrioid form is exceptional and of controversial etiopathogenesis. Only a few cases have been previously reported. Diagnosis most often occurs incidentally during histological examination. This case presents a distinctive aspect with the rare occurrence of endometrioid-type fallopian tube cancer, notably associated with endometriosis, and initially misdiagnosed as an infected endometrioma. It underscores the diagnostic complexities encountered in identifying primary fallopian tube cancer.
CASE REPORT
We present the case of a 49-year-old patient, followed for chronic pelvic pain associated with menorrhagia. Imaging revealed a myomatous and adenomyotic uterus, a right ovarian endometrioma, and a left multicystic ovarian formation with thick walls, measuring 135 mm, requiring histological verification. She underwent an exploratory laparotomy. During the procedure, extensive retro- and supravaginal adhesive tissue involving the uterus, both adnexa, and the digestive tract was found. Careful adhesiolysis was performed. The left adnexa harbored a formation suggestive of an infected endometrioma. A total hysterectomy with bilateral adnexectomy and peritoneal washing was performed. The postoperative course was uneventful. Histopathological examination revealed an endometrioid carcinoma of the left fallopian tube, classified as pT1a according to FIGO guidelines.
DISCUSSION
Tubal cancer is a rare cancer of unknown etiology, underestimated, and sometimes confused with ovarian pathology. Preoperative diagnosis is difficult because the clinical presentation is polymorphic and imaging is nonspecific. The endometrioid form is exceptional and of controversial etiopathogenesis. Treatment mirrors that of malignant epithelial ovarian tumors, with prognosis depending on FIGO stage and histological type.
CONCLUSION
Due to its unpredictable nature, fallopian tube cancer should not be overlooked as a differential diagnosis for any adnexal mass.
PubMed: 38833903
DOI: 10.1016/j.ijscr.2024.109796 -
International Journal of Women's Health 2024An ectopic kidney is a rare congenital defect that is often asymptomatic, but can be incidentally discovered during imaging examinations. Moreover, the morphological...
An ectopic kidney is a rare congenital defect that is often asymptomatic, but can be incidentally discovered during imaging examinations. Moreover, the morphological characteristics and laboratory features of ectopic kidneys are nonspecific, which may lead to misleading diagnostic approaches, particularly when there are additional factors, such as infection, obstruction, or other anomalies. A 43-year-old female presented with a mass in the left adnexal area. She had septate uterus and a history of congenital urinary incontinence. Ultrasound and MRI findings indicated that the mass was a cyst originating from the ovary. However, it is possible that the lump was derived from the urinary system. To confirm the diagnosis, laparoscopy was performed, followed by pathological examination, which confirmed the presence of an ectopic kidney with a single-system ectopic ureter. The patient underwent nephroureterectomy, and her symptoms successfully resolved, leading to a favorable prognosis. This case report highlights a rare case involving an ectopic kidney with a vaginal ectopic ureter that initially presented as an adnexal cyst and caused urinary dribbling. This case emphasizes the importance of early recognition and accurate diagnosis in women with similar symptoms.
PubMed: 38827928
DOI: 10.2147/IJWH.S457828 -
Cureus Apr 2024A 38-year-old nulliparous woman with severe obesity (BMI 66) and hypertension presented with constipation, fatigue, weakness, and poor appetite that had progressively...
A 38-year-old nulliparous woman with severe obesity (BMI 66) and hypertension presented with constipation, fatigue, weakness, and poor appetite that had progressively worsened over the prior two to three weeks. Upon admission, the patient was found to have significant hypercalcemia, leukocytosis, and lactic acidosis. Computed tomography (CT) scan of the chest, abdomen, and pelvis revealed an adnexal mass with extensive lesions throughout her pelvis, abdomen, and chest. An ultrasound-guided omental core biopsy was performed, which was confirmatory for metastatic ovarian small cell carcinoma. Given her poor prognosis and clinical status, chemotherapy was likely to provide minimal benefit and ultimately the patient decided to pursue a comfort-oriented plan of care and passed away on day 9 of admission.
PubMed: 38807834
DOI: 10.7759/cureus.59214 -
Journal of Family & Reproductive Health Dec 2023Malignant transformation in dermoid cysts is rare, and Squamous Cell Carcinoma (SCC) is the most common form. This event often occurs in large tumors and middle-aged...
OBJECTIVE
Malignant transformation in dermoid cysts is rare, and Squamous Cell Carcinoma (SCC) is the most common form. This event often occurs in large tumors and middle-aged women.
CASE REPORT
In this study, two cases are presented. They were menopause, and abdominal pain and adnexal mass was a common manifestation in both. Case 1 with adenocarcinoma arising in mature cystic teratoma had abnormal tumor markers and was diagnosed with a frozen section during surgery, but case 2 with SCC transformation had normal tumor markers, and the frozen section was not helpful in the first surgery. Both underwent complete staging surgery, and due to stage IC1 in case 1, she received chemotherapy, and in case 2, no adjuvant treatment was needed because of stage IA.
CONCLUSION
Considering the rarity of malignant transformation in the dermoid cyst, the best surgical approach and adjuvant therapy indications need further research.
PubMed: 38807623
DOI: 10.18502/jfrh.v17i4.14599 -
BMC Medical Genomics May 2024Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the... (Review)
Review
BACKGROUND
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the development of benign tumors in any organ system with significant clinical implications in morbidity and mortality. In rare instances, patients with TSC can have malignant tumors, including renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (PNET). It is considered a hereditary renal cancer syndrome despite the low incidence of RCC in TSC patients. TSC is typically diagnosed in prenatal and pediatric patients and frequently associated with neurocognitive disorders and seizures, which are often experienced early in life. However, penetrance and expressivity of TSC mutations are highly variable. Herein, we present a case report, with associated literature, to highlight that there exist undiagnosed adult patients with less penetrant features, whose clinical presentation may contain non-classical signs and symptoms, who have pathogenic TSC mutations.
CASE PRESENTATION
A 31-year-old female with past medical history of leiomyomas status post myomectomy presented to the emergency department for a hemorrhagic adnexal cyst. Imaging incidentally identified a renal mass suspicious for RCC. Out of concern for hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, the mass was surgically removed and confirmed as RCC. Discussion with medical genetics ascertained a family history of kidney cancer and nephrectomy procedures and a patient history of ungual fibromas on the toes. Genetic testing for hereditary kidney cancer revealed a 5'UTR deletion in the TSC1 gene, leading to a diagnosis of TSC. Following the diagnosis, dermatology found benign skin findings consistent with TSC. About six months after the incidental finding of RCC, a PNET in the pancreatic body/tail was incidentally found on chest CT imaging, which was removed and determined to be a well-differentiated PNET. Later, a brain MRI revealed two small cortical tubers, one in each frontal lobe, that were asymptomatic; the patient's history and family history did not contain seizures or learning delays. The patient presently shows no evidence of recurrence or metastatic disease, and no additional malignant tumors have been identified.
CONCLUSIONS
To our knowledge, this is the first report in the literature of a TSC patient without a history of neurocognitive disorders with RCC and PNET, both independently rare occurrences in TSC. The patient had a strong family history of renal disease, including RCC, and had several other clinical manifestations of TSC, including skin and brain findings. The incidental finding and surgical removal of RCC prompted the genetic evaluation and diagnosis of TSC, leading to a comparably late diagnosis for this patient. Reporting the broad spectrum of disease for TSC, including more malignant phenotypes such as the one seen in our patient, can help healthcare providers better identify patients who need genetic evaluation and additional medical care.
Topics: Humans; Tuberous Sclerosis; Female; Adult; Kidney Neoplasms; Carcinoma, Renal Cell; Tuberous Sclerosis Complex 2 Protein; Tuberous Sclerosis Complex 1 Protein; Mutation
PubMed: 38802873
DOI: 10.1186/s12920-024-01913-8 -
Gynecologic Oncology Reports Jun 2024Uterine leiomyomas are benign tumors characterized by pelvic pain and abnormal bleeding. Their evolution can lead to degenerative changes, occasionally mimicking...
BACKGROUND
Uterine leiomyomas are benign tumors characterized by pelvic pain and abnormal bleeding. Their evolution can lead to degenerative changes, occasionally mimicking malignancies on imaging, presenting diagnostic challenges.
CASE PRESENTATION
A 31-year-old nulliparous woman presented with symptoms of bloating, cramping, and abdominal distension. Imaging suggested an advanced ovarian malignancy, showing a complex adnexal mass and elevated CA-125 levels. During exploratory laparotomy, what was suspected to be ovarian cancer was instead identified as a large uterine mass on pathologic evaluation revealing a benign leiomyoma with extensive hydropic change.
CONCLUSION
This case highlights the diagnostic intricacies associated with large complex adnexal masses and illustrates how benign conditions like leiomyomas with hydropic degeneration can mimic ovarian cancer. This emphasizes the importance of comprehensive preoperative and intraoperative assessments to tailor management and avoid unindicated radical procedures.
PubMed: 38798949
DOI: 10.1016/j.gore.2024.101415 -
Medicine May 2024The most common subtype of primary lymphoma of the ocular adnexa is the mucosa-associated lymphoid tissue (MALT) subtype. MALT lymphoma of the lacrimal gland is... (Review)
Review
RATIONALE
The most common subtype of primary lymphoma of the ocular adnexa is the mucosa-associated lymphoid tissue (MALT) subtype. MALT lymphoma of the lacrimal gland is relatively rare among the lacrimal gland tumors, and the early clinical symptoms are atypical, which can easily lead to misdiagnosis and missed diagnosis. Here, we report a case of MALT lymphoma of the lacrimal gland and explore its clinical manifestations, pathological characteristics, management, and pathogenesis, with the aim of helping clinicians gain an in-depth understanding of ocular adnexal MALT lymphoma.
PATIENT CONCERNS
A 60-year-old man presented to our hospital with proptosis and diplopia. The right eye deviated and shifted toward the lower part of the nose.
DIAGNOSIS
Orbital enhanced magnetic resonance imaging suggested a mass with a maximum cross-section of 3.2 × 2.1 cm. T1 weighted image was isointense, and the enhancement was more uniform and obvious.
INTERVENTIONS
The right orbital mass was treated surgically, and the final pathology report was MALT lymphoma. After the pathological report was released, the patient was transferred to the hematology department for further diagnosis and no further treatment was given eventually.
OUTCOMES
Seven months later, the patient did not complain of discomfort. Whole-body positron emission tomography-computed tomography, superficial lymph node examination and orbital magnetic resonance imaging revealed no abnormal changes.
LESSONS
The clinical manifestations of MALT lymphoma are heterogeneous. Imaging examination is important for assessing the size of the tumor and its relationship with adjacent tissues. Postoperative pathological examination may provide further evidence for the evaluation of the patient's surgical efficacy and prognosis. Management of MALT lymphoma of the lacrimal gland requires a multidisciplinary approach involving ophthalmologists, hematologists, and radiotherapists.
Topics: Humans; Lymphoma, B-Cell, Marginal Zone; Middle Aged; Male; Eye Neoplasms; Lacrimal Apparatus; Magnetic Resonance Imaging; Lacrimal Apparatus Diseases
PubMed: 38787969
DOI: 10.1097/MD.0000000000038303 -
International Journal of Surgery Case... Jun 2024Epidermoid cysts may occur due to anomalies during fetal development, approximately 1-2 % occur in the oral cavity. A cyst lumen filled with fluid or keratin without...
INTRODUCTION
Epidermoid cysts may occur due to anomalies during fetal development, approximately 1-2 % occur in the oral cavity. A cyst lumen filled with fluid or keratin without skin adnexal structures (such as hair, hair follicle, sweat gland, sebaceous gland) can be defined as epidermoid cyst. 7 % of these cysts occur in the head and neck, 1.6 % of which appear in the oral cavity. Gender distribution is balanced but more prevalent in males. Epidermoid cysts are the most common cutaneous cysts. These cysts are rarely discovered prior to puberty. It has been reported that 1 % of epidermoid cysts will malignantly develop into squamous cell carcinoma (SCC) or basal cell carcinoma (BCC).
CASE PRESENTATION
18-year-old male patient presented with 57.99 × 55.33 × 41.41 mm-sized epidermoid cyst treated at the Regional Hospital in Indonesia. The primary complaint was a painless, asymptomatic lump on the floor of the mouth which was felt 10 years ago. Two years prior, the lump enlarged, and the patient began to feel difficulty in swallowing, and respiratory distress appeared one year later. Supplementary examinations: ultrasonography, fine needle aspiration biopsy, plain radiography, multiple slice computed tomography scan was performed to support epidermoid cyst diagnosis.
DISCUSSION
An intraoral approach-based cystectomy with a horizontal incision was utilized for surgical treatment to avoid adjacent anatomic structure. Histopathological examination showed a macroscopic image of pouch tissue with approximately 0.2 cm-thick wall, brownish white in color with yellow mass like cheese pulp, and microscopic image of tissue covered with monomorphous complex squamous epithelium with eosinophilic keratinized mass lumen.
CONCLUSION
Following the procedure, there was no longer respiratory distress nor difficulty in swallowing and the patient recovered well with no deficiency in aesthetics.
PubMed: 38761688
DOI: 10.1016/j.ijscr.2024.109729 -
Frontiers in Medicine 2024Surgery remains the main treatment option for an adnexal mass suspicious of ovarian cancer. The malignancy rate is, however, only 10-15% in women undergoing surgery....
BACKGROUND
Surgery remains the main treatment option for an adnexal mass suspicious of ovarian cancer. The malignancy rate is, however, only 10-15% in women undergoing surgery. This results in a high number of unnecessary surgeries. A surveillance-based approach is recommended to form the basis for surgical referrals. We have previously reported the clinical performance of MIA3G, a deep neural network-based algorithm, for assessing ovarian cancer risk. In this study, we show that MIA3G markedly improves the surgical selection for women presenting with adnexal masses.
METHODS
MIA3G employs seven serum biomarkers, patient age, and menopausal status. Serum samples were collected from 785 women (IQR: 39-55 years) across 12 centers that presented with adnexal masses. MIA3G risk scores were calculated for all subjects in this cohort. Physicians had no access to the MIA3G risk score when deciding upon a surgical referral. The performance of MIA3G for surgery referral was compared to clinical and surgical outcomes. MIA3G was also tested in an independent cohort comprising 29 women across 14 study sites, in which the physicians had access to and utilized MIA3G prior to surgical consideration.
RESULTS
When compared to the actual number of surgeries ( = 207), referrals based on the MIA3G score would have reduced surgeries by 62% ( = 79). The reduction was higher in premenopausal patients (77%) and in patients ≤55 years old (70%). In addition, a 431% improvement in malignancy prediction would have been observed if physicians had utilized MIA3G scores for surgery selection. The accuracy of MIA3G referral was 90.00% (CI 87.89-92.11), while only 9.18% accuracy was observed when the MIA3G score was not used. These results were corroborated in an independent multi-site study of 29 patients in which the physicians utilized MIA3G in surgical consideration. The surgery reduction was 87% in this cohort. Moreover, the accuracy and concordance of MIA3G in this independent cohort were each 96.55%.
CONCLUSION
These findings demonstrate that MIA3G markedly augments the physician's decisions for surgical intervention and improves malignancy prediction in women presenting with adnexal masses. MIA3G utilization as a clinical diagnostic tool might help reduce unnecessary surgeries.
PubMed: 38756943
DOI: 10.3389/fmed.2024.1374836