scholarly journals Pheochromocytomatosis associated with a novel TMEM127 mutation

2017 ◽  
Vol 2017 ◽  
Author(s):  
Run Yu ◽  
Danielle Sharaga ◽  
Christopher Donner ◽  
M Fernando Palma Diaz ◽  
Masha J Livhits ◽  
...  
Keyword(s):  
Surgical Resection ◽  
Rare Complication ◽  
List Type ◽  
Open Resection ◽  
Rare Form ◽  
Tumor Capsule ◽  
The Right ◽  
Learning Points ◽  
Generation Sequencing ◽  
Capsule Rupture

Summary Pheochromocytomatosis, a very rare form of pheochromocytoma recurrence, refers to new, multiple, and often small pheochromocytomas growing in and around the surgical resection bed of a previous adrenalectomy for a solitary pheochromocytoma. We here report a case of pheochromocytomatosis in a 70-year-old female. At age 64 years, she was diagnosed with a 6-cm right pheochromocytoma. She underwent laparoscopic right adrenalectomy, during which the tumor capsule was ruptured. At age 67 years, CT of abdomen did not detect recurrence. At age 69 years, she began experiencing episodes of headache and diaphoresis. At age 70 years, biochemical markers of pheochromocytoma became elevated with normal calcitonin level. CT revealed multiple nodules of various sizes in the right adrenal fossa, some of which were positive on metaiodobenzylguanidine (MIBG) scan. She underwent open resection of pheochromocytomatosis. Histological examination confirmed numerous pheochromocytomas ranging 0.1–1.2 cm in size. Next-generation sequencing of a panel of genes found a novel heterozygous germline c.570delC mutation in TMEM127, one of the genes that, if mutated, confers susceptibility to syndromic pheochromocytoma. Molecular analysis showed that the c.570delC mutation is likely pathogenic. Our case highlights the typical presentation of pheochromocytomatosis, a rare complication of adrenalectomy for pheochromocytoma. Previous cases and ours collectively demonstrate that tumor capsule rupture during adrenalectomy is a risk factor for pheochromocytomatosis. We also report a novel TMEM127 mutation in this case. Learning points: Pheochromocytomatosis is a very rare form of pheochromocytoma recurrence. Pheochromocytomatosis refers to new, multiple and often small pheochromocytomas growing in and around the surgical resection bed of a previous adrenalectomy for a solitary pheochromocytoma. Tumor capsule rupture during adrenalectomy predisposes a patient to develop pheochromocytomatosis. Surgical resection of the multiple tumors of pheochromocytomatosis is recommended. Pheochromocytoma recurrence should prompt genetic testing for syndromic pheochromocytoma.

scholarly journals Disease-modifying polymorphisms and C609Y mutation of RET associated with high penetrance of phaeochromocytoma and low rate of MTC in MEN2A

2016 ◽  
Vol 2016 ◽  
Author(s):  
Rowena Speak ◽  
Jackie Cook ◽  
Barney Harrison ◽  
John Newell-Price
Keyword(s):  
Medullary Thyroid Cancer ◽  
Family Members ◽  
List Type ◽  
Similar Data ◽  
Coding Region ◽  
Younger Age ◽  
High Penetrance ◽  
Ease Of Access ◽  
Learning Points ◽  
Generation Sequencing

Mutations of the rearranged during transfection (RET) proto-oncogene, located on chromosome 10q11.2, cause multiple endocrine neoplasia type 2A (MEN2A). Patients with mutations at the codon 609 usually exhibit a high penetrance of medullary thyroid cancer (MTC), but a sufficiently low penetrance of phaeochromocytoma that screening for this latter complication has been called to question. Patients with other RET mutations are at higher risk of younger age onset phaeochromocytoma if they also possess other RET polymorphisms (L769L, S836S, G691S and S904S), but there are no similar data for patients with 609 mutations. We investigated the unusual phenotypic presentation in a family with MEN2A due to a C609Y mutation in RET. Sanger sequencing of the entire RET-coding region and exon–intron boundaries was performed. Five family members were C609Y mutation positive: 3/5 initially presented with phaeochromocytoma, but only 1/5 had MTC. The index case aged 73 years had no evidence of MTC, but presented with phaeochromocytoma. Family members also possessed the G691S and S904S RET polymorphisms. We illustrate a high penetrance of phaeochromocytoma and low penetrance of MTC in patients with a RET C609Y mutation and polymorphisms G691S and S904S. These data highlight the need for life-long screening for the complications of MEN2A in these patients and support the role for the screening of RET polymorphisms for the purposes of risk stratification. Learning points: C609Y RET mutations may be associated with a life-long risk of phaeochromocytoma indicating the importance of life-long screening for this condition in patients with MEN2A. C609Y RET mutations may be associated with a lower risk of MTC than often quoted, questioning the need for early prophylactic thyroid surgery discussion at the age of 5 years. There may be a role for the routine screening of RET polymorphisms, and this is greatly facilitated by the increasing ease of access to next-generation sequencing.

scholarly journals An intrasellar pituitary adenoma–gangliocytoma presenting as acromegaly

2017 ◽  
Vol 2017 ◽  
Author(s):  
Melissa H Lee ◽  
Penelope McKelvie ◽  
Balasubramanian Krishnamurthy ◽  
Yi Yuen Wang ◽  
Carmela Caputo
Keyword(s):  
Pituitary Adenoma ◽  
Surgical Resection ◽  
Pituitary Adenomas ◽  
Histological Analysis ◽  
Good Prognosis ◽  
List Type ◽  
Ongoing Research ◽  
Learning Points ◽  
Mixed Tumours ◽  
Gh Excess

Summary Most cases of acromegaly are due to growth hormone (GH)-secreting pituitary adenomas arising from somatotroph cells. Mixed pituitary adenoma and gangliocytoma tumours are rare and typically associated with hormonal hypersecretion, most commonly GH excess. Differentiating these mixed tumours from conventional pituitary adenomas can be difficult pre-operatively, and careful histological analysis after surgical resection is key to differentiating the two entities. There is little literature addressing the possible mechanisms for the development of mixed pituitary adenoma–gangliocytomas; however, several hypotheses have been proposed. It still remains unclear if these mixed tumours differ from a clinical perspective to pituitary adenomas; however, the additional neural component of the gangliocytoma does not appear to modify the aggressiveness or risk of recurrence after surgical resection. We report a unique case of acromegaly secondary to a mixed GH-secreting pituitary adenoma, co-existing with an intrasellar gangliocytoma. Learning points: Acromegaly due to a mixed GH-secreting pituitary adenoma and intrasellar gangliocytoma is rare. These mixed tumours cannot be distinguished easily from ordinary pituitary adenomas on the basis of clinical, endocrine or neuroradiologic findings, and histological analysis is required for a definitive diagnosis. Surgical resection is usually sufficient to provide cure, without the need for adjuvant therapy. These mixed tumours appear to have a good prognosis although the natural history is not well defined. The pathogenesis of these mixed tumours remains debatable, and ongoing research is required.

scholarly journals Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients

2018 ◽  
Vol 2018 ◽  
Author(s):  
E Mogas ◽  
A Campos-Martorell ◽  
M Clemente ◽  
L Castaño ◽  
A Moreno-Galdó ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Rare Condition ◽  
List Type ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Severe Hypercalcemia ◽  
The Right ◽  
Learning Points

Summary Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene (CASR) mutation was found, resulting in diagnosis of symptomatic familial hypocalciuric hypercalcemia. Cinacalcet, a calcium-sensing agent that increases the sensitivity of the CASR, was used in both patients with successful results. Learning points: Hyperparathyroidism is a rare condition in pediatric patients. If not treated, it can cause serious morbidity. Genetic tests searching for CASR or MEN1 gene mutations in pediatric patients with primary hyperparathyroidism should be performed. Cinacalcet has been effective for treating different causes of hyperparathyroidism in our two pediatric patients. Treatment has been well tolerated and no side effects have been detected.

scholarly journals Transient diabetes insipidus in a post-partum woman with pre-eclampsia associated with residual placental vasopressinase activity

2018 ◽  
Vol 2018 ◽  
Author(s):  
Natassia Rodrigo ◽  
Samantha Hocking
Keyword(s):  
Diabetes Insipidus ◽  
Post Partum ◽  
Rare Complication ◽  
List Type ◽  
Physiological Changes ◽  
Third Trimester ◽  
Diuretic Hormone ◽  
Reproductive Techniques ◽  
Learning Points

Summary This case illustrates the exceedingly rare phenomenon of transient diabetes insipidus, in association with pre-eclampsia, occurring in the post-partum period following an in vitro fertilisation pregnancy, in an otherwise well 48-year-old lady. Diabetes insipidus can manifest during pregnancy, induced by increased vasopressinase activity secreted by placental trophoblasts and usually manifests in the third trimester. This presentation elucidates not only the intricate balance between the physiology of pregnancy and hormonal homeostasis, but also the importance of post-partum care as the physiological changes of pregnancy still hold pathological potential in the weeks immediately following delivery. Learning points: Diabetes insipidus (DI) is a rare complication of pregnancy occurring in 1 in 30 000 pregnancies. It is associated with excessive vasopressinase activity, secreted by placental trophoblasts, which increases the rate of degradation of anti-diuretic hormone. It is responsive to synthetic desmopressin 1-deanimo-8-d-arginine vasopressin as this form is not degraded by placental vasopressinase. Vasopressinase is proportional to placental weight, which is increased in pregnancies conceived with assisted reproductive techniques including in vitro fertilisation. Vasopressinase-induced DI is associated with pre-eclampsia.

scholarly journals Fluconazole and acetazolamide in the treatment of ectopic Cushing's syndrome with severe metabolic alkalosis

2015 ◽  
Vol 2015 ◽  
Author(s):  
Verena Schwetz ◽  
Felix Aberer ◽  
Claudia Stiegler ◽  
Thomas R Pieber ◽  
Barbara Obermayer-Pietsch ◽  
...  
Keyword(s):  
Case Report ◽  
Surgical Resection ◽  
Cushing’S Syndrome ◽  
Metabolic Alkalosis ◽  
Cushing's Syndrome ◽  
List Type ◽  
Ectopic Acth ◽  
Ectopic Cushing’S Syndrome ◽  
Ectopic Acth Production ◽  
Learning Points

Summary Cushing's syndrome (CS) due to ectopic ACTH production accounts for about 10% of all types of CS and is frequently associated with metabolic alkalosis. Treatment of CS involves surgical resection and/or medical therapy to control hypercortisolism. We present the case of an 80-year-old woman affected by CS due to an unknown cause. The patient had severe metabolic alkalosis with refractory hypokalemia. To treat the underlying CS, fluconazole was initiated due to unavailability of ketoconazole. In spite of markedly decreasing cortisol levels, metabolic alkalosis persisted. Treatment of metabolic alkalosis with acetazolamide was thus initiated and pH levels successfully lowered. This case report shows that hypercortisolism can be effectively treated with fluconazole in cases where ketoconazole is unavailable or not tolerated and that persistent severe metabolic alkalosis caused by glucocorticoid excess can be safely and successfully treated with acetazolamide. Learning points Hypercortisolism can be effectively treated with fluconazole where ketoconazole is unavailable or not tolerated. Glucocorticoid excess can cause severe metabolic alkalosis. Persistent severe metabolic alkalosis can be safely and successfully treated with acetazolamide.

scholarly journals An unusual myocardial infarction

2014 ◽  
Vol 1 (2) ◽  
pp. K9-K12 ◽  
Author(s):  
Sara Di Michele ◽  
Francesca Mirabelli ◽  
Domenico Galzerano ◽  
Sunil Mankad
Keyword(s):  
Myocardial Infarction ◽  
Heart Diseases ◽  
Cardiac Tumors ◽  
List Type ◽  
Transthoracic Echocardiogram ◽  
Cardiac Apex ◽  
The Right ◽  
Electrocardiogram Ecg ◽  
Learning Points ◽  
Chest Ct Scan

Summary We present a 74-year-old male with a chondrosarcoma, who presented with chest pain. The history, electrocardiogram (ECG), and biomarkers established the diagnosis of myocardial infarction (MI); angiography did not show coronary atherosclerosis and, both initial transthoracic echocardiogram and chest computed tomography (CT), did not demonstrate any cardiac abnormalities. A second echocardiogram following a routine ECG showed presence of a mass involving the right ventricle and the cardiac apex that was confirmed by chest CT scan. We underline the importance of considering cardiac tumors in the clinical arena of MI management. Learning points Cardiac tumors cause ECG changes similar to ischemic heart diseases. Keep in mind cardiac tumors when performing transthoracic echocardiogram (TTE) in the setting of suspected MI. TTE is the technique of choice in detecting cardiac tumors.

scholarly journals Pheochromocytoma due to a novel SDHD variant presenting as unilateral visual loss

2021 ◽  
Vol 2021 ◽  
Author(s):  
Clare Miller ◽  
Agnieszka Pazderska ◽  
John Reynolds ◽  
Patricia Gou ◽  
Barbara Dunne ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Organ Damage ◽  
Secondary Hypertension ◽  
Cystoid Macular Oedema ◽  
List Type ◽  
Next Generation ◽  
Novel Variants ◽  
High Heritability ◽  
Learning Points ◽  
Generation Sequencing

Summary A 53-year-old female presented to a tertiary ophthalmology referral centre complaining of unilateral painless loss of vision. Subsequent assessment revealed malignant hypertension causing right-sided cystoid macular oedema. During the course of secondary hypertension workup, she was diagnosed with a 7.8 cm phaeochromocytoma which was resected. Testing for a panel of all predisposing phaeochromocytoma-causing variants using next-generation sequencing resulted in the diagnosis of a novel SDHD variant. Learning points Screening for secondary causes of hypertension is indicated when there is evidence of hypertension-mediated end-organ damage (1). Testing for a predisposing variant should be considered in all patients with phaeochromocytoma or paraganglioma due to the high heritability rate and prevalence of somatic variants (2, 3, 4). Novel variants are commonly uncovered in the Succinate Dehydrogenase (SDH) subunit; proving pathogenicity is a complex, time-consuming process and one challenge of next-generation sequencing (3). SDHB immunohistochemistry as a tool for demonstrating pathogenicity is associated with reduced sensitivity when assessing SDHD variants (5, 6).

Hepatic brucelloma: a rare complication of a common zoonotic disease

2020 ◽  
Vol 13 (12) ◽  
pp. e237076
Author(s):  
George Vatidis ◽  
Eirini I Rigopoulou ◽  
Konstantinos Tepetes ◽  
George N Dalekos
Keyword(s):  
Rare Complication ◽  
Surgical Excision ◽  
Coombs Test ◽  
Inflammation Markers ◽  
Laboratory Findings ◽  
Ct Guided ◽  
Rare Manifestation ◽  
Bone Marrow Cultures ◽  
History Of ◽  
The Right

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.

scholarly journals Resection of primary cardiac angiosarcoma infiltrating the right atrioventricular junction and tricuspid valve: a case report

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Lubna Bakr ◽  
Hussam AlKhalaf ◽  
Ahmad Takriti
Keyword(s):  
Surgical Resection ◽  
Tricuspid Valve ◽  
Right Atrium ◽  
Large Mass ◽  
Small Mass ◽  
Malignant Tumours ◽  
Atrioventricular Junction ◽  
Cardiac Angiosarcoma ◽  
Complete Surgical Resection ◽  
The Right

Abstract Background Primary cardiac tumours are extremely rare. Most of them are benign. Sarcomas account for 95% of the malignant tumours. Prognosis of primary cardiac angiosarcoma remains poor. Complete surgical resection is oftentimes hampered when there is extensive tumour involvement into important cardiac apparatus. We report a case of cardiac angiosarcoma of the right atrium and ventricle, infiltrating the right atrioventricular junction and tricuspid valve. Case presentation Initially, a 22-year-old man presented with dyspnoea. One year later, he had recurrent pericardial effusion. Afterwards, echocardiography revealed a large mass in the right atrium, expanding from the roof of the right atrium to the tricuspid valve. The mass was causing compression on the tricuspid valve, and another mass was seen in the right ventricle. Complete resection of the tumour was impossible. The mass was resected with the biggest possible margins. The right atrium was reconstructed using heterologous pericardium. The patient’s postoperative course was uneventful. Postoperative echocardiography showed a small mass remaining in the right side of the heart. Histopathology and immunohistochemistry confirmed the diagnosis of angiosarcoma. The patient underwent adjuvant chemotherapy and radiotherapy later on. He survived for 1 year and 5 days after the surgery. After a diagnosis of lung and brain metastases, he ended up on mechanical ventilation for 48 h and died. Conclusions Surgical resection combined with postoperative chemotherapy and radiotherapy is feasible even in patients with an advanced stage of cardiac angiosarcoma when it is impossible to perform complete surgical resection.

Sonographic Diagnosis of Bilateral Tubal Pregnancies

2021 ◽  
pp. 875647932199235
Author(s):  
Amber R. Matuzak
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tubal Ligation ◽  
Tubal Pregnancy ◽  
Rare Form ◽  
Sonographic Diagnosis ◽  
Ectopic Pregnancies ◽  
The Right ◽  
Preoperative Sonography ◽  
Bilateral Tubal Pregnancy

Bilateral tubal pregnancy (BTP) is a very rare form of ectopic twin gestation. Many times, they occur after the use of assisted reproductive therapy. Most cases of BTP are diagnosed during laparoscopy. This case report demonstrates a rare preoperative, sonography diagnosis of a spontaneous BTP which occurred after a tubal ligation. The sonogram revealed two corpus luteal cysts, both located on the right ovary, which suggests that the left tubal pregnancy most likely occurred as a result of ovum transmigration. This case demonstrates the important role that sonography plays in the early diagnosis of ectopic pregnancies as well as the importance of thoroughly examining the entire pelvis during a pelvic sonogram.

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