Carney complex revealed by a cerebellar ischemic stroke in a six-year-old girl

Abstract

Carney complex (CNC, OMIM 160980) is a rare dominantly inherited syndrome characterized by the presence of skin pigmentation, myxomas and endocrine tumors. Two-thirds of patients are found to have an inactivating heterozygous germline mutation of the PRKAR1A gene, which encodes the R1alpha regulatory subunit of cyclic-Amp-dependent protein kinase A (1). Approximately 160 index case have been identified (2).

This article is protected by copyright. All rights reserved.

http://ift.tt/2y4JhEe