Project description:H syndrome is an extremely rare autosomal recessive affection caused by biallelic mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter hENT3. The hallmark signs are cutaneous consisting of hyperpigmentation and hypertrichosis patches. Besides, associated systemic manifestations are highly various reflecting phenotypic pleiotropism. Herein, we report a first case of pseudo-Meigs' syndrome occurring in a young Tunisian H syndrome diagnosed patient with a novel homozygous frameshift mutation in exon 2 of the SLC29A3 gene: p.S15Pfs*86 inducing a premature stop codon. The patient developed ascites associated with left ovarian mass and she underwent surgery. After tumor resection, ascites disappeared rapidly. Histological examination showed serous cystadenoma of the ovary orienting the diagnosis towards pseudo-Meigs' syndrome.
Project description:Ovarian metastasis of breast cancer with pseudo-Meigs’ syndrome (PMS) is extremely rare. Only four cases of PMS secondary to breast cancer with ovarian metastasis have been reported to date. In this report, we present the fifth case of PMS caused by ovarian metastasis of breast cancer. On the 2nd of July 2019, a 53-year-old woman presented to our hospital with complaints of abdominal distension, irregular vaginal bleeding, and chest distress. Color Doppler ultrasound examination revealed a mass approximately 109×89 mm in size in the right adnexal area, accompanied by multiple uterine fibroids and a large amount of pelvic and peritoneal effusions. The patient had no common symptoms and showed no signs of breast cancer. The main manifestations were a right ovarian mass, massive hydrothorax, and ascites. Lab workup and imaging revealed raised CA125 (cancer antigen 125) levels and multiple bone metastases. At first the patient was misdiagnosed with ovarian carcinoma. After the rapid disappearance of oophorectomy hydrothorax and ascites, and decreased CA125 levels, from 1,831.8u/ml to normal range. According to the pathology report, breast cancer was finally diagnosed. The patient underwent endocrine therapy (Fulvestrant) and azole treatment after oophorectomy. At the 40-month follow-up, the patient was still alive and doing well.
Project description:BackgroundMeigs' syndrome is a rare disease characterized by a triad of presentations, including benign ovarian tumor, ascites, and pleural effusion. However, a clinical diagnosis of Meigs' syndrome remains challenging because pleural and ascitic effusions can be common findings in a variety of underlying conditions. Furthermore, these findings can often be misdiagnosed as pleural and peritoneal dissemination caused by potentially malignant tumors, leading to the administration of improper treatment.Case presentationWe described a case of an 85-year-old postmenopausal female patient with atypical Meigs' syndrome presenting with right-sided pleural effusion, notable leg edema, and trivial ascites, which was initially mistaken as heart failure with preserved ejection fraction. However, pleural effusion was totally ineffective against diuretic therapy. Subsequently, thoracentesis yielded serosanguineous exudative effusion. Moreover, refractory pleural effusions and abdominal/pelvic computed tomography and magnetic resonance imaging findings strongly suggested bilateral malignant ovarian tumors with pleural dissemination. Repetitive negative cytological results allowed the patient to undergo bilateral salpingo-oophorectomy. Finally, a definitive diagnosis of Meigs' syndrome was made by confirming the presence of a benign mitotically active cellular fibroma of the ovary by pathology and that pleural effusion resolved following tumor resection.ConclusionsOur case highlights the clinical importance of assessing Meigs' syndrome in the diagnostic workup of pleural effusion in postmenopausal female patients. Given the favorable prognosis of Meigs' syndrome, clinicians should consider surgical resection, even with potentially malignant ovarian tumors with accompanying pleural effusion, ascites, or both.
Project description:The monodermal teratoma struma ovarii is a rare ovarian tumour; however, struma ovarii presenting with pseudo-Meigs' syndrome and raised cancer antigen (CA)-125 levels is even rarer. In elderly patients, this presentation can potentially lead to a misdiagnosis of a malignant ovarian carcinoma, resulting in unnecessary extensive surgery. We report a 55-year-old female who presented to the Lok Nayak Jai Prakash Narayan Hospital, New Delhi, India, in 2016 with progressive abdominal discomfort, fatigue and abdominal distention. Clinical and radiological features were indicative of a malignant ovarian tumour and ascites. Serum CA-125 levels were elevated at 258 U/mL. A left-sided salpingo-oophorectomy was performed, after which the serum CA-125 levels normalised. There was no evidence of recurrence at a six-month follow-up. A frozen section procedure confirmed the diagnosis of a struma ovarii. This rare condition should be considered as a differential diagnosis in patients presenting with ovarian masses, ascites and raised CA-125 levels.
Project description:Meigs' syndrome is a rare gynecological condition characterized by a benign ovarian tumor, ascites, and pleural effusion, all of which resolve spontaneously after tumor removal. While mildly elevated serum CA-125 levels are frequently observed, levels exceeding 1,000 IU/mL are extremely rare, and concurrent elevation of other tumor markers, such as HE-4, may further complicate its diagnosis. We report a case of Meigs' syndrome in a 41-year-old premenopausal woman. Initial presenting symptoms included severe dyspnea, abdominal distention, anorexia, and weight loss. Subsequent imaging studies revealed a large right ovarian tumor accompanied by massive ascites and pleural effusion. Serum CA-125 and HE-4 levels were markedly elevated (1,200 IU/mL and 82.1 pmol/L, respectively), with a Risk of Ovarian Malignancy Algorithm (ROMA) score of 25.63%, suggesting advanced ovarian malignancy. Neoadjuvant chemotherapy was initiated, but the tumor continued to grow, necessitating internal debulking surgery. Postoperative histopathology revealed a benign ovarian fibroma, confirming the diagnosis of Meigs' syndrome. Spontaneous resolution of ascites and pleural effusion occurred by the second postoperative day, and the tumor markers normalized within the next six months. The patient remained disease-free at 2-year follow-up. This case underscores the importance of considering Meigs' syndrome in patients with markedly elevated tumor markers, an ovarian tumor unresponsive to chemotherapy, and concomitant ascites and pleural effusion. Early recognition and surgical intervention are critical for accurate diagnosis and optimal management of this rare condition.
Project description:We report a case of synchronous primary corpus and ovarian cancer (SPC) with massive ascites due to Pseudo-Meigs syndrome (PMS). A 48-year-old woman presented with complaints of abnormal genital bleeding and abdominal discomfort. Massive ascites and tumors in the endometrium and right ovary were detected. Although imaging tests showed no evidence of dissemination, and ascites cytology was negative, we performed a diagnostic laparoscopy to exclude the possibility of microdissemination because pathological findings of the corpus tumor were suggested to be so-called Type-2 endometrial cancer. Laparoscopy clearly confirmed no dissemination in the peritoneum. We ultimately diagnosed this patient with SPC with massive nonmalignant ascites due to PMS and performed an appropriate treatment. This report is the first case of SPC that developed PMS.
Project description:Prune Belly syndrome occurs in 1/40,000 live births and predominantly in males. It is characterized by triad: cryptorchidism, abdominal wall, and urinary tract abnormalities. Patients with partial or unilateral abdominal wall deficiency, unilateral undescended testis, and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome. In the 3%-5% of patients with Prune Belly syndrome are affected by Pseudo Prune Belly syndrome, indeed case reports available are very few. We described a case of a male patient born with a large abdominal hernia. Thoracoabdominal X-ray confirmed the large abdominal hernia and revealed a malformation of the rib cage with curved ribs. Magnetic resonance imaging showed thinning of the abdominal wall and ultrasonography detected rectus and oblique muscles hypoplastic with diastasis rectus muscles and stretching of the Hunter's line. Cryptorchidism or urinary tract abnormalities were not detected. The first surgical operation was performed at 2 years of life when the general conditions were stable.
Project description:Ovarian tumors can get extremely giant to occupy the whole abdominal cavity. We report a case of 36 kg solid ovarian tumor, which was the largest ovarian solid tumor that have been ever reported. A 54-year-old woman presented to our hospital with a chief complaint of markedly distended abdominal wall. Preoperative imaging examinations revealed that most of the tumor was uniform and its density was like that of subcutaneous fat. Pleural effusion was detected in the right thoracic region. We organized a multidisciplinary team and successfully resected the right adnexa. The patient had an uneventful postoperative course, and she was discharged on the 7th postoperative day and diagnosed with a fibroma of the ovary with Meigs syndrome. A comprehensive literature search revealed 48 cases of extremely giant ovarian tumor in these 20 years. Six out of 48 cases are solid. Twelve out of 48 cases are malignant or borderline malignant, and patients' age and tumor size/weight were not related to the frequency of malignancy/borderline malignancy. As many as 4 out of 48 patients died before their first hospital visit or early after surgery. Clinicians should consider a considerable high mortality and frequency of severe surgical complications when planning the treatment strategy for extremely giant ovarian tumors.
Project description:A 33-year-old man was referred to our hospital with chief complaints of fever, dizziness, and headache. Although he had recurring fever and dizziness for 7 months, neurological examination, magnetic resonance imaging, computed tomography, electrocardiograms, and blood tests were normal. He was diagnosed with functional hyperthermia, cervical vertigo, and tension headache and was treated with oral medication and physical therapy. After treatment, the dizziness and headache resolved; however, the fever and anxiety did not. During follow-up, he noticed differing results from different electronic thermometers. The physician decided to use an accurate analog thermometer, a gallium thermometer, in combination with the other thermometers. The results differed significantly among the thermometers, and the electronic thermometer readings were found to be inappropriately high. The physician made a diagnosis of pseudo-fever, and the patient recognized that the gallium thermometer's results were the most accurate reflection of his physical condition, resolving his anxiety.