The Carney triad (CT) describes the coexistence of multiple neoplasms including gastrointestinal stromal tumors (GISTs), extra-adrenal paraganglioma and pulmonary chondroma. At least two neoplastic tumors are required...The Carney triad (CT) describes the coexistence of multiple neoplasms including gastrointestinal stromal tumors (GISTs), extra-adrenal paraganglioma and pulmonary chondroma. At least two neoplastic tumors are required for diagnosis. In most cases, however, CT is incomplete. We report a case of an incomplete CT in a 34-year-old woman with a multifocal GIST and non-functional paraganglioma of the liver. Preoperative evaluation with a gastrofiberscope and abdominal computed tomography revealed multiple gastric tumors resembling GISTs and a single liver lesion which was assumed to have metastasized from the gastric tumors. The patient underwent total gastrectomy and partial hepatectomy. Histologic findings confirmed multiple gastric GISTs and paraganglioma of the liver. We report a case of a patient with incomplete expression of CT.展开更多
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of familial Cushing's syndrome. It is characterized by bilateral adrenocortical hyperplasia with small to normal-sized adrenal glands contai...Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of familial Cushing's syndrome. It is characterized by bilateral adrenocortical hyperplasia with small to normal-sized adrenal glands containing multiple small adrenal cortical pigmented nodules [1,2]. PPNAD may occur in an isolated form or as familial PPNAD. Familial cases of PPNAD are usually associated with Carney complex in which Cushing’s syndrome is the most common endocrine manifestation [3]. Familial cases of PPNAD without associated Carney complex are very rare. Only a few cases of familial isolated PPNAD have been reported in the literature, mostly in females [4]. Isolated familial PPNAD has got a better prognosis than familial PPNAD associated with Carney Complex. This observation has important consequences for clinical management, follow-up and genetic counselling of such patients. Familial cases of PPNAD are rare and mostly present in females with associated Carney complex. We herein report a case of familial Cushing’s syndrome in male siblings due to PPNAD without associated Carney complex.展开更多
Introduction: The Carney complex (CC) is an autosomal dominant syndrome, characterized by multiple endocrine neoplasms, pigmented skin lesions, endocrine hyper-activity and myxomas. Case study: C. E., 71 years old, wa...Introduction: The Carney complex (CC) is an autosomal dominant syndrome, characterized by multiple endocrine neoplasms, pigmented skin lesions, endocrine hyper-activity and myxomas. Case study: C. E., 71 years old, was addressed to our center in August 1994, following the finding of a sellar enlargement in a skull radiography performed after an accident. A pituitary tomography showed the presence of a lesion extended up to the optic chiasm, a macroadenoma that was treated with transsphenoidal endoscopic surgery. A histological diagnosis of a “GH secreting macroadenoma” was performed. An echocardiographic study highlighted an atrial isolated myxoma that was subsequently removed. A contrast-enhanced abdominal magnetic resonance imaging (MRI) excluded adrenal lesions. In 2001, in relation to relapse of Acromegaly, the patient started therapy with somatostatin analogues which was replaced, in 2008, by Pegvisomant to obtain biochemical control of the disease. Conclusions: At the time of initial screening, it is important not to underestimate the possibility that certain clinical features fall within the context of more complex syndromes. The knowledge of how Acromegaly presents itself in relation to CC and its associated characteristics such as cardiac myxoma or typical skin lesions, will help clinicians to timely diagnose this rare disease and treat it appropriately.展开更多
This is a report of a patient who manifests all of the features of Carneys syndrome, including gastrointestinal stromal tumors (GISTs), extra-adrenal paragangliomas, and pulmonary chondromas. The patient underwent s...This is a report of a patient who manifests all of the features of Carneys syndrome, including gastrointestinal stromal tumors (GISTs), extra-adrenal paragangliomas, and pulmonary chondromas. The patient underwent surgical resection of a gastric GIST; a retroperitoneal, nonfunctional paraganglioma; and a mediastinal, catecholamine-secreting paraganglioma (pheochromocytoma). Recently, new gastric GISTs were diagnosed by endoscopic, ultrasound-guided, fine-needle aspiration (EUS-FNA) biopsy and were resected. Recurrence of stromal tumors following complete resection is common in Carneys syndrome and presents considerable management challenges. This case illustrates several important points: (1) Carneys syndrome, although rare, should be considered in patients with foregut GISTs; (2) GISTs associated with Carneys syndrome, like sporadic gastric GISTs, may have a more indolent clinical course; and (3) EUS-FNA may be useful for the diagnosis and management of GISTs in this syndrome.展开更多
文摘The Carney triad (CT) describes the coexistence of multiple neoplasms including gastrointestinal stromal tumors (GISTs), extra-adrenal paraganglioma and pulmonary chondroma. At least two neoplastic tumors are required for diagnosis. In most cases, however, CT is incomplete. We report a case of an incomplete CT in a 34-year-old woman with a multifocal GIST and non-functional paraganglioma of the liver. Preoperative evaluation with a gastrofiberscope and abdominal computed tomography revealed multiple gastric tumors resembling GISTs and a single liver lesion which was assumed to have metastasized from the gastric tumors. The patient underwent total gastrectomy and partial hepatectomy. Histologic findings confirmed multiple gastric GISTs and paraganglioma of the liver. We report a case of a patient with incomplete expression of CT.
文摘Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of familial Cushing's syndrome. It is characterized by bilateral adrenocortical hyperplasia with small to normal-sized adrenal glands containing multiple small adrenal cortical pigmented nodules [1,2]. PPNAD may occur in an isolated form or as familial PPNAD. Familial cases of PPNAD are usually associated with Carney complex in which Cushing’s syndrome is the most common endocrine manifestation [3]. Familial cases of PPNAD without associated Carney complex are very rare. Only a few cases of familial isolated PPNAD have been reported in the literature, mostly in females [4]. Isolated familial PPNAD has got a better prognosis than familial PPNAD associated with Carney Complex. This observation has important consequences for clinical management, follow-up and genetic counselling of such patients. Familial cases of PPNAD are rare and mostly present in females with associated Carney complex. We herein report a case of familial Cushing’s syndrome in male siblings due to PPNAD without associated Carney complex.
文摘Introduction: The Carney complex (CC) is an autosomal dominant syndrome, characterized by multiple endocrine neoplasms, pigmented skin lesions, endocrine hyper-activity and myxomas. Case study: C. E., 71 years old, was addressed to our center in August 1994, following the finding of a sellar enlargement in a skull radiography performed after an accident. A pituitary tomography showed the presence of a lesion extended up to the optic chiasm, a macroadenoma that was treated with transsphenoidal endoscopic surgery. A histological diagnosis of a “GH secreting macroadenoma” was performed. An echocardiographic study highlighted an atrial isolated myxoma that was subsequently removed. A contrast-enhanced abdominal magnetic resonance imaging (MRI) excluded adrenal lesions. In 2001, in relation to relapse of Acromegaly, the patient started therapy with somatostatin analogues which was replaced, in 2008, by Pegvisomant to obtain biochemical control of the disease. Conclusions: At the time of initial screening, it is important not to underestimate the possibility that certain clinical features fall within the context of more complex syndromes. The knowledge of how Acromegaly presents itself in relation to CC and its associated characteristics such as cardiac myxoma or typical skin lesions, will help clinicians to timely diagnose this rare disease and treat it appropriately.
文摘This is a report of a patient who manifests all of the features of Carneys syndrome, including gastrointestinal stromal tumors (GISTs), extra-adrenal paragangliomas, and pulmonary chondromas. The patient underwent surgical resection of a gastric GIST; a retroperitoneal, nonfunctional paraganglioma; and a mediastinal, catecholamine-secreting paraganglioma (pheochromocytoma). Recently, new gastric GISTs were diagnosed by endoscopic, ultrasound-guided, fine-needle aspiration (EUS-FNA) biopsy and were resected. Recurrence of stromal tumors following complete resection is common in Carneys syndrome and presents considerable management challenges. This case illustrates several important points: (1) Carneys syndrome, although rare, should be considered in patients with foregut GISTs; (2) GISTs associated with Carneys syndrome, like sporadic gastric GISTs, may have a more indolent clinical course; and (3) EUS-FNA may be useful for the diagnosis and management of GISTs in this syndrome.
