scholarly journals A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma

2021 ◽  
Author(s):  
Ali A. Ghazi ◽  
Mohammad Hossein Mandegar ◽  
Mohammad Abazari ◽  
Neda Behzadnia ◽  
Taraneh Sadeghian ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Novel Mutation ◽  
Carney Complex ◽  
Cushing's Syndrome ◽  
Atrial Myxoma ◽  
Pituitary Macroadenoma

Neurosurgical implications of Carney complex

2000 ◽  
Vol 92 (3) ◽  
pp. 413-418 ◽  
Author(s):  
Joe C. Watson ◽  
Constantine A. Stratakis ◽  
Peter K. Bryant-Greenwood ◽  
Christian A. Koch ◽  
Lawrence S. Kirschner ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Pituitary Adenomas ◽  
Carney Complex ◽  
Cushing's Syndrome ◽  
Spinal Tumors ◽  
Common Component ◽  
Content Type ◽  
Cardiac Myxomas ◽  
Insight Into ◽  
Fine Print

Object. The authors present their neurosurgical experience with Carney complex. Carney complex, characterized by spotty skin pigmentation, cardiac myxomas, primary pigmented nodular adrenocortical disease, pituitary tumors, and nerve sheath tumors (NSTs), is a recently described, rare, autosomal-dominant familial syndrome that is relatively unknown to neurosurgeons. Neurosurgery is required to treat pituitary adenomas and a rare NST, the psammomatous melanotic schwannoma (PMS), in patients with Carney complex. Cushing's syndrome, a common component of the complex, is caused by primary pigmented nodular adrenocortical disease and is not secondary to an adrenocorticotropic hormone-secreting pituitary adenoma.Methods. The authors reviewed 14 cases of Carney complex, five from the literature and nine from their own experience. Of the 14 pituitary adenomas recognized in association with Carney complex, 12 developed growth hormone (GH) hypersecretion (producing gigantism in two patients and acromegaly in 10), and results of immunohistochemical studies in one of the other two were positive for GH. The association of PMSs with Carney complex was established in 1990. Of the reported tumors, 28% were associated with spinal nerve sheaths. The spinal tumors occurred in adults (mean age 32 years, range 18–49 years) who presented with pain and radiculopathy. These NSTs may be malignant (10%) and, as with the cardiac myxomas, are associated with significant rates of morbidity and mortality.Conclusions. Because of the surgical comorbidity associated with cardiac myxoma and/or Cushing's syndrome, recognition of Carney complex has important implications for perisurgical patient management and family screening. Study of the genetics of Carney complex and of the biological abnormalities associated with the tumors may provide insight into the general pathobiological abnormalities associated with the tumors may provide insight into the general pathobiological features of pituitary adenomas and NSTs.

scholarly journals Primary pigmented nodular adrenocortical disease and Cushing's syndrome

2007 ◽  
Vol 51 (8) ◽  
pp. 1238-1244 ◽  
Author(s):  
Anelia Horvath ◽  
Constantine Stratakis
Keyword(s):  
Molecular Genetics ◽  
Cushing’S Syndrome ◽  
Adrenal Glands ◽  
Skin Pigmentation ◽  
Carney Complex ◽  
Cushing's Syndrome ◽  
Camp Signaling ◽  
Camp Signaling Pathway ◽  
Molecular Studies ◽  
Adrenocortical Hyperplasia

Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)-independent Cushing's syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules (1,2). PPNAD may occur in an isolated form or associated with a multiple neoplasia syndrome, the complex of spotty skin pigmentation, myxomas, and endocrine overactivity, or Carney complex, in which Cushing's syndrome is the most common endocrine manifestation (3). Molecular studies have led to the identification of several genes, defects in which may predispose PPNAD formation; all of these molecules play important role for the cAMP signaling pathway. This review intends to present the most recent knowledge of the pathology and molecular genetics of the benign bilateral adrenocortical lesions, as well as to discuss the modern tools for diagnostics and treatment of this condition.

scholarly journals SAT-262 A Case of Pseudotumor Cerebri After Removal and Recurrence of ACTH-Producing Tumor

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Karla Bermudez Saint Andre ◽  
Steven Petak ◽  
Laila Tabatabai
Keyword(s):  
Weight Loss ◽  
Cerebrospinal Fluid ◽  
Weight Gain ◽  
Cushing’S Syndrome ◽  
Cushing’S Disease ◽  
Pseudotumor Cerebri ◽  
Cushing's Syndrome ◽  
Cushing's Disease ◽  
Pituitary Macroadenoma ◽  
Second Surgery

Abstract Introduction: Pseudotumor cerebri also known as idiopathic intracranial hypertension (IIH) is a condition of elevated cerebrospinal fluid pressure which as a result causes headaches and vision problems. Several case reports and studies have reported a relation of IIH with Cushing’s disease (CD) in adults and children, particularly after surgical or medical therapy. We describe a very uncommon presentation of persistent intracranial hypertension (ICH) in a patient with recurrence of cushing’s disease after her initial surgical resection. Case presentation:38-year-old African-American female with a BMI of 45, type 2 diabetes, HTN and history of Cushing’s syndrome from an ACTH-producing pituitary macroadenoma. She initially presented with increasing weight gain and features of Cushing’s syndrome including hypertension, hyperglycemia, truncal obesity and moon facies. Imaging studies showed a 2 cm intrasellar mass with suprasellar extension without compression of the optic chiasm. Hormonal evaluation confirmed Cushing’s syndrome from an ACTH-producing pituitary macroadenoma. Patient underwent initial trans-sphenoidal hypophysectomy (TSR) and was tapered down to physiologic doses of glucocorticoids. Post-operatively she started complaining of significant headaches and transient vision loss. She followed up with neuro-ophthalmology and was diagnosed with papilledema that was not present in the pre-operative examination. An LP (lumbar puncture) was recommended to assess for ICH, however patient declined the procedure. A year after, a second surgery had to be performed for recurrent pituitary adenoma. Unfortunately, a repeat MRI pituitary shortly after her second surgery revealed recurrent pituitary macroadenoma of 2.2 cm. Patient continued with headaches and underwent an LP with an opening pressure of 28 cm H20 (ICH > 26 cm H2O). She underwent a third TSR with follow up MRI showing gross total resection of the previously seen pituitary mass. For her ICH she was started on acetazolamide but was not able to tolerate due to paresthesias and metallic taste. Her symptoms have improved after her last resection and last MRI brain shows no residual tumor. She is currently on furosemide and focusing on weight loss. Conclusion: Our patient’s presentation is an interesting and unusual case because we believe she had both pseudotumor cerebri (IIH) and real tumor cerebri from the complications of her ACTH-secreting macroadenoma. The cause of IIH after treatment of cushing’s disease is believed to be mostly due to steroid withdrawal after surgical resection or medical treatment comprising hormonal control of cerebrospinal fluid production and absorption. In our patient we suppose that the persistent weight gain caused by the recurrence of her CD could also contribute to her IIH. The treatment in general is the same with physiologic doses of corticosteroids, diuretics and weight loss.

Sign in / Sign up

Export Citation Format

Share Document