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16 November 2018 : Case report  Greece

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

Challenging differential diagnosis, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)

Andreas Kiriakopoulos1ABCDEFG*, Dimitrios Linos1ABCDEFG

DOI: 10.12659/AJCR.911962

Am J Case Rep 2018; 19:1366-1369

Abstract

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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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923