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American Journal of Case Reports is indexed in ESCI - Emerging Sources Citation Index ( Clarivate, formerly Thomson-Reuters ), as a part of the Web of Science.

American Journal of Case Reports is an Open Access journal which means that all content is freely available without charge to the user or his/her... read more

Published: 2018-11-16

Carney Syndrome Presented as a Pathological Spine Fracture in a 35-Year-Old Male

Andreas Kiriakopoulos, Dimitrios Linos

(Fifth Surgical Clinic, Department of Surgery, National and Kapodistrian University of Athens School of Medicine, Athens, Greece)

Am J Case Rep 2018; 19:1366-1369

DOI: 10.12659/AJCR.911962

BACKGROUND: Carney complex (CNC) is a genetic disorder that presents as an adrenocorticotropic hormone (ACTH)-independent variant of endogenous Cushing syndrome. It was first reported in 1985 and was described as a form of multiple endocrine hyperplasia associated with mutations of the c-AMP-dependent protein kinase (PRKAR1A) gene that causes bilateral adrenal hyperplasia. We report a case of an incidentally found CNC in a 35-year-old male, and this case report focuses on the diagnostic scheme as well as the surgical treatment of this rare challenging condition.
CASE REPORT: A-35-year-old male presented with pathological thoracic spine fracture. The patient exhibited obesity, facial flushing, red-purplish streaks on the abdominal wall, multiple pigmented nevi of the trunk, and hypertension. Family history was positive for cardiac myxoma. Laboratory investigation showed ACTH-independent Cushing syndrome. Abdominal magnetic resonance imaging and computed tomography scan showed bilateral adrenal hyperplasia. The ensuing Liddle test revealed the characteristic paradox increase of 24-hours urine cortisol for CNC. After a bilateral retroperitoneoscopic adrenalectomy, histologic examination confirmed the presence of bilateral primary pigmented nodular adrenocortical disease (PPNAD). Genetic testing revealed a unique mutation of the responsible PRKAR1A gene.
CONCLUSIONS: CNC presence was suspected due to the family history. Its characteristic pathologic manifestation called PPNAD, clinically presents as an ACTH-independent Cushing syndrome with paradoxical positive response of urinary glucocorticosteroid excretion after dexamethasone administration (Liddle’s test). Bilateral retroperitoneoscopic adrenalectomy constitutes an acceptable surgical option for PPNAD.

Keywords: Adrenal Cortex Neoplasms, Adrenalectomy, carney complex, Cushing Syndrome

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