Author/Authors :
Ortaç, Ragıp Dr. Behçet Uz Children Hospital - Clinic of Pathology, Turkey , Tavlı, Vedide Dr. Behçet Uz Children Hospital - Clinic of Cardiology, Turkey , Diniz, Gülden Dr. Behçet Uz Children Hospital - Clinic of Pathology, Turkey , Yılmazer, Murat Muhtar Dr. Behçet Uz Children Hospital - Clinic of Pathology, Turkey , Demirpençe, Savaş Dr. Behçet Uz Children Hospital - Clinic of Pathology, Turkey
Abstract :
Naxos-Carvajal disease is a rare autosomal recessive inherited disease characterized by a triad of ventricular dysplasia/dilated cardiomyopathy, woolly hair and palmoplantar hyperkeratosis. The pathological process is characterized by progressive loss of myocardial fibrils and replacement with fibro-fatty tissue. We present a 3-year-old case of Naxos-Carvajal disease who is to our knowledge the youngest patient in literature.
