A Rare Case of Carney's Complex in an Adult

  • Sonal Singh
  • V R Mujeeb
  • Prashant Jambunathan
Keywords: Carney, endocrine, acromegaly, growth, myxoma, transnasal, trans-sphenoid, adenoma

Abstract

A 35 year old male came to medical attention when he was seen to have prominent jaw with frontal bossing and large doughy hands. Clinical examination revealed features of acromegaly and multiple lentiginous hyper-melanotic patches on the upper and lower extremities. Imaging revealed multiple left atrial myxomas and a diffusely enlarged adenohypophysis. A diagnosis of Carney's Complex was made, which is a rare autosomal dominant condition, characterized by the triad of endocrinopathies, atrial myxomas and lentiginous skin lesions. He was surgically managed for the same and is currently asymptomatic. He continues to remain under regular follow up at our centre. With about 150 described cases on contemporary literature1, this rare condition, often requiring a multidisciplinary approach for accurate management,  remains both a therapeutic challenge and an enigma.

References

Vezzosi D, Vignaux O, Dupin N, Bertherat J. Carney Complex. Clinical and genetic update. Ann Endocrinol (Paris). Dec 2010; 71(6):486-93

Groussin L, Horvath A, Jullian E, Boikos S, Rene Corail F, Lefebvre H et al. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol metab. May 2006;91(5):1943-9

Urban C, Weinhausel A, Fritsch P, Sovinz P, Weinhandl G, Lackner H et al. Primary pigmented nodular adrenocortical disease and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation. J pediatr endocrinol metab. Feb 2007;20(2):247-52.

Published
2021-04-09
Section
Case Reports