scholarly journals Atypical manifestation of parathyroid carcinoma with late-onset distant metastases

Author(s):  
Marina Tsoli ◽  
Anna Angelousi ◽  
Dimitra Rontogianni ◽  
Constantine Stratakis ◽  
Gregory Kaltsas

Summary Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4.5 × 3 × 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia. Treatment of hypercalcemia along with localized radiotherapy and various chemotherapy regimens failed to induce a biochemical or radiological response. In conclusion, parathyroid carcinoma is a rare neoplasia that may develop metastases even after prolonged follow-up, for which there is no evidence-based treatment besides surgery. Different chemotherapeutic schemes did not prove to be of any benefit in our case highlighting the need for registering such patients to better understand tumor biology and develop specific treatment. Learning points: Metastases can develop many years after parathyroid cancer diagnosis. Surgery is the only curative treatment for parathyroid carcinoma. Chemotherapy and radiotherapy prove to be ineffective in parathyroid cancer treatment. Patient registering is required in order to delineate underlining pathology and offer specific treatment.

Author(s):  
Gautam Das ◽  
Peter N Taylor ◽  
Arshiya Tabasum ◽  
L N Rao Bondugulapati ◽  
Danny Parker ◽  
...  

Summary Resistant hypertension is often difficult to treat and may be associated with underlying primary aldosteronism (PA). We describe the case of an elderly gentleman who presented with severe and resistant hypertension and was found to have a left adrenal incidentaloma during evaluation but had aldosterone excess secondary to unilateral adrenal hyperplasia (UAH) of the contralateral gland, which needed surgical intervention. A 65-year-old gentleman was evaluated for uncontrolled high blood pressure (BP) in spite of taking four antihypertensive medications. The high BP was confirmed on a 24-h ambulatory reading, and further biochemical evaluation showed an elevated serum aldosterone renin ratio (ARR) (1577 pmol/l per ng per ml per h). Radiological evaluation showed an adrenal nodule (15 mm) in the left adrenal gland but an adrenal vein sampling demonstrated a lateralization towards the opposite site favouring the right adrenal to be the source of excess aldosterone. A laparoscopic right adrenalectomy was performed and the histology of the gland confirmed nodular hyperplasia. Following surgery, the patient's BP improved remarkably although he remained on antihypertensives and under regular endocrine follow-up. PA remains the most common form of secondary and difficult-to-treat hypertension. Investigations may reveal incidental adrenal lesions, which may not be the actual source of excess aldosterone, but UAH may be a contributor and may coexist and amenable to surgical treatment. An adrenal vein sampling should be undertaken for correct lateralization of the source, otherwise a correctable diagnosis may be missed and the incorrect adrenal gland may be removed. Learning points Severe and resistant hypertension can often be associated with underlying PA. ARR is an excellent screening tool in patients with suspected PA. Lateralization with adrenal venous sampling is essential to isolate the source and differentiate between unilateral and bilateral causes of hyperaldosteronism. Adrenal incidentalomas and UAH may coexist and the latter may often be the sole cause of excess aldosterone secretion. Decisions about adrenalectomy should be made only after integrating and interpreting radiological and biochemical test findings properly.


Author(s):  
Luisa Cortellazzo Wiel ◽  
Irene Berti ◽  
Meta Starc ◽  
Flora Maria Murru ◽  
Egidio Barbi ◽  
...  

A female neonate was born with asymmetric lower limbs, the right leg appearing enlarged, with thickened, reddish-purple skin and ectasic superficial reticulum (figure 1A,B). Limb pulses were present and symmetrical. The girl’s family history and prenatal scans were unremarkable. Laboratory findings were within the normal range, except for a mild thrombocytopenia (90 000/μL), which spontaneously resolved during the next few days. A leg X-ray and the Doppler analysis ruled out the presence of calcifications and venous varices, respectively. Ultrasound showed significant skin thickening, with marked dermal hypertrophy and hyperechogenicity. Magnetic resonance showed circumferential thickening of the derma, with mild hypertrophy of some perforating vessels (figure 2). A biopsy of the right thigh showed capillary malformations on histology.Figure 1(A, B) Hypertrophy of the right lower limb, with large capillary malformation extending to the gluteus and the external genitalia.Figure 2Axial THRIVE magnetic resonance scan of the thighs’ proximal third, showing circumferential dermal thickening and inhomogeneity of the right leg’s subcutaneous tissue.QuestionsBased on the clinical picture and investigations results, which is the most likely diagnosis?Beckwith-WiedemannCLOVES syndromeKlippel-Trenaunay syndromeKaposiform hemangioendotheliomaHow can the diagnosis be confirmed?CT with PETLymphoscintigraphyGenetic testingNone of the above, the diagnosis is clinicalWhat is the mainstay of management?Conservative with follow-upPharmacotherapySclerotherapySurgeryWhich of the following complications can occur?ScoliosisGlaucomaUrinary and gastrointestinal bleedingAll of the aboveAnswers can be found on page 02.


Author(s):  
Liudmila Rozhinskaya ◽  
Ekaterina Pigarova ◽  
Ekaterina Sabanova ◽  
Elizaveta Mamedova ◽  
Iya Voronkova ◽  
...  

Summary Parathyroid carcinoma is an extremely rare disorder with little treatment options. It could be misdiagnosed in medical centers with little experience in management of such cases. Our clinical case shows that the initial misdiagnosis of a parathyroid carcinoma in a young woman has led to the development of multiple lung metastases, thus making its treatment hardly possible. Initiation of treatment with sorafenib – a multi-kinase inhibitor approved for treatment of different types of cancer but not parathyroid carcinoma – has led to a significant decrease in the size of lung metastases and has prevented the progression of hyperparathyroidism, which is usually severe in cases of parathyroid carcinoma. The detection of a germline CDC73 mutation in this patient has raised additional concerns about the necessity of periodic screening for early detection of renal, jaw and uterine lesions. Learning points: Diagnosis of parathyroid carcinoma may be challenging due to the absence of reliable diagnostic criteria. Thus, thorough histological examination is needed using immunohistochemical staining of resected tissue in suspicious cases. CDC73 genetic testing should be considered in patients with parathyroid carcinoma. Sorafenib may be a promising treatment of patients with parathyroid carcinoma with distant metastases.


2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
M. Stoll ◽  
C. A. Nebiker ◽  
L. Remonda ◽  
R. Grobholz

A 71-year-old woman was admitted with angina pectoris. During hospitalization she developed a myocardial infarction (NSTEMI). Laboratory results revealed a mild elevated troponin and an elevated calcium level (3.35 mmol/l). Subsequently, there was a decreased phosphate (0.36 mmol/l [normal 0.81-1.62 mmol/l]) as well as 16-fold elevated serum level of parathyroid hormone (PTH, 1156 ng/l [normal 10-73 ng/l]), indicating a primary hyperparathyroidism. Sonographically a thyroidal node was detected, not clearly demarcated (TIRADS 5). FNA showed a monomorphic, partial follicular cell population with an immunohistochemical positivity for PTH. Magnetic resonance imaging (MRI) showed a 5 cm large tumor at the right caudal pole of the thyroid with compression of the dorsolateral trachea without infiltration. Surgical removal with en bloc resection of the right hemithyroid with parathyroidectomy was performed. Postoperatively the PTH level dropped to 12.1 ng/l. Pathological examination revealed a 5 cm tumor with infiltration of the thyroid and a perineural invasion. The diagnosis of a presymptomatic parathyroid carcinoma could be established. The affirmative histopathological diagnosis of a parathyroid carcinoma can be challenging and is limited to tumors with evidence of invasive growth in adjacent structures such as the thyroid and/or soft tissue, perineural spaces, angioinvasion of capsular and/or extracapsular vessels, and/or documented metastases.


2020 ◽  
Vol 17 (1) ◽  
pp. 27-32
Author(s):  
Snežana Knežević ◽  
Biljana Srećković ◽  
Jelena Vulović ◽  
Marijana Jandrić-Kočić

Cholangiocarcinoma is a malignant tumor originating from the ductal epithelium. It is divided into intrahepatic, gallbladder carcinoma and peripheral cholangiocarcinoma. The prevalence depends on the region, ethnicity, gender, and localization of the tumor. The most common symptoms are jaundice, pain, nausea, weight loss. The tumor is mostly found in the advanced stage when local and distant metastases are detectable. Median survival rate in patients who are in an advanced inoperable stage is 3.9 months. A 60-year-old patient came in January 2018 with pain in the epigastrium, weight loss and nausea. Objectively positive Murphy sign and enlarged liver were found. The ultrasound showed a lobulated, heterogeneous, fatty liver with a tumor mass in the right liver lobe, measuring more than 12 cm in diameter. Laboratory findings: Alpha-fetoprotein 13.0 ng/mL, carcinoembryonic antigen 7.25 mg/ml, carbohydrate antigen 19-9 56.7 U/ml, erythrocyte sedimentation rate 29, bilirubin 24.7 mmol/L, alanine aminotransferase 32.0 U/L, aminotransferase 56 U/L, alkaline phosphatase 181 U/L, C-reactive protein 43.1 µg/mL, uric acid 561 µmol/L. Computerized tomography showed an enlarged, lobular, non-homogeneous liver and non-homogeneous, as well as hetero-dense changes of indistinct contours, measuring 98x90x80 mm and 8x16 mm. All these findings were confirmed by magnetic resonance. Chest x-ray showed multiple metastases. Liver biopsy confirmed primary malignancy of the bile. The patient was treated palliatively and passed away in March, two months after the initially occurrence of disease symptoms.


Author(s):  
Ahmed Iqbal ◽  
Peter Novodvorsky ◽  
Alexandra Lubina-Solomon ◽  
Fiona M Kew ◽  
Jonathan Webster

Summary Secondary amenorrhoea and galactorrhoea represent a common endocrine presentation. We report a case of an oestrogen-producing juvenile granulosa cell tumour (JGCT) of the ovary in a 16-year-old post-pubertal woman with hyperprolactinaemia amenorrhoea and galactorrhoea which resolved following surgical resection of the tumour. This patient presented with a 9-month history of secondary amenorrhoea and a 2-month history of galactorrhoea. Elevated serum prolactin at 7081 mIU/l and suppressed gonadotropins (LH <0.1 U/l; FSH <0.1 U/l) were detected. Serum oestradiol was significantly elevated at 7442 pmol/l with undetectable β-human chorionic gonadotropin. MRI showed a bulky pituitary with no visible adenoma. MRI of the abdomen showed a 4.8 cm mass arising from the right ovary with no evidence of metastatic disease. Serum inhibin B was elevated at 2735 ng/l. A right salpingo-oophorectomy was performed, and histology confirmed the diagnosis of a JGCT, stage International Federation of Gynaecology and Obstetrics 1A. Immunohistochemical staining for prolactin was negative. Post-operatively, oestrogen and prolactin levels were normalised, and she subsequently had a successful pregnancy. In summary, we present a case of an oestrogen-secreting JGCT with hyperprolactinaemia manifesting clinically with galactorrhoea and secondary amenorrhoea. We postulate that observed hyperprolactinaemia was caused by oestrogenic stimulation of pituitary lactotroph cells, a biochemical state analogous to pregnancy. To the best of our knowledge, this is the first report of hyperprolactinaemia as a result of excessive oestrogen production in the context of a JGCT. Learning points Hyperprolactinaemia with bilateral galactorrhoea and secondary amenorrhoea has a wide differential diagnosis and is not always caused by a prolactin secreting pituitary adenoma. Significantly elevated serum oestradiol levels in the range seen in this case, in the absence of pregnancy, are indicative of an oestrogen-secreting tumour. JGCTs are rare hormonally active ovarian neoplasms mostly secreting steroid hormones. Serum inhibin can be used as a granulosa cell-specific tumour marker. JGCTs have an excellent prognosis in the early stages of the disease.


2020 ◽  
Vol 3 ◽  
pp. 1
Author(s):  
Ramiro José Daud ◽  
Horacio Freile ◽  
Mauricio Freile ◽  
Soledad Mariano

A case report on a 49-year-old female with diagnoses of ocular hypertension in her left eye (LE) treated with 250 mg/day acetazolamide for 2 years. During the slit-lamp examination, complete occlusion of both iridocorneal angles was detected. Intraocular pressure (IOP) was 10 and 35 mmHg in the right eye and LE, respectively. Phacotrabeculectomy was performed in the LE. After 1 month of the procedure, the patient developed a slowly progressive miopization from −1 to −3 diopters (D) the following months. Approximately 3 months after surgery, the patient developed an episode of acute pain, athalamia, and IOP 45 mmHg in her LE. Late-onset malignant glaucoma was suspected and the patient was treated with topical hypotensive and cycloplegic agent until a prompt vitrectomy was performed. Deepening of the anterior chamber and restoration of IOP to normal range was obtained after surgery.


2020 ◽  
Vol 13 (12) ◽  
pp. e237076
Author(s):  
George Vatidis ◽  
Eirini I Rigopoulou ◽  
Konstantinos Tepetes ◽  
George N Dalekos

Hepatic brucelloma (HB), a rare manifestation of brucellosis, refers to liver involvement in the form of abscess. A 35-year-old woman stockbreeder was admitted due to 1-month history of evening fever, sweating and weight loss, while she was on 3-week course of rifampicin/doxycycline for suspected brucellosis. On admission, she had hepatosplenomegaly and a systolic murmur, while cholestasis, increased inflammation markers and a strong-positive Wright-Coombs test were the main laboratory findings. As blood and bone marrow cultures were unrevealing, further investigation with CT imaging showed a central liver calcification surrounded by heterogeneous hypodense area being compatible with HB. Material from CT-guided drainage tested negative for Brucella spp. After failure to improve on a 10-week triple regiment, surgical excision was decided and Brucella spp were identified by PCR. Our case highlights challenges in establishing HB diagnosis, which should be considered on the right epidemiological context and when serological and radiological evidence favour its diagnosis.


2021 ◽  
pp. 097321792110075
Author(s):  
Rameshwor Yengkhom ◽  
Pradeep Suryawanshi ◽  
Rahul Murugkar ◽  
Bhavya Gupta ◽  
Sujata Deshpande ◽  
...  

Background and Objectives: Point of care neonatal ultrasound is a useful tool in evaluation of heart, brain, lungs, and abdomen in neonatal sepsis. The objective of our study was to perform bedside ultrasound screening of heart, brain, lungs, and abdomen in neonates with late onset culture positive sepsis and study the patterns of abnormalities and also their role in change of patient management. Methods: This prospective observational study was conducted at a tertiary level neonatal care unit from March 2017 to May 2018. All neonates with suspected late onset sepsis on the basis of clinical and laboratory findings underwent point of care neonatal ultrasound of heart, brain, lungs, and abdomen. Results: Of 153 suspected and eligible late-onset neonatal sepsis (LONS) cases, 67 (44%) had positive blood culture and were analyzed. Of this 67 neonates, 30 (45%) had abnormal neurosonography, 38 (57%) had abnormal cardiac output, 14 (20%) had abnormal cardiac contractility, 17 (25%) had abnormal pulmonary pressure, 18 (27%) had pulmonary arterial hypertension, 19 (28%) had pneumonia, and 7 (10%) had free fluid in abdomen. Clinical management was changed in 26 (39%) neonates. Conclusion: Bedside point of care neonatal ultrasound is a useful tool in assessment of heart, brain, lungs, and abdomen in a LONS. It could help in making appropriate decisions in the management, and therefore potentially reduce morbidity and mortality.


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