Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature

Abstract

Central core disease (CCD) is mainly a disease of infancy and childhood and represents a member of a group of muscular disorders known as "congenital, benign (non-progressive) myopathies". It is an uncommon disease of infancy and early childhood, and presentation is rare in adulthood. The disease is mainly familial with an autosomal-dominant pattern of inheritance, yet sporadic cases can occur. The diagnosis is based on a muscle biopsy, which documents unique morphological abnormalities of focal loss of oxidative enzyme in type I muscular fibers. The basis for this loss of such activities is represented by a near-total absence of mitochondria and sarcoplasmic reticulum in the cores. We describe a 58-year-old man diagnosed with CCD, who is one of the oldest individuals reported with CCD diagnosed by a muscle biopsy. The clinical, pathological and genetic features of this rare entity are discussed herein.