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Novel Presentation of Central Core Disease with Nemaline Bodies (Rods) in the Setting of Diploid/Triploid Mosaicism

Address correspondence to John R. Parker, Department of Pathology, University of Louisville Hospital, 530 South Jackson St., Louisville, KY 40292, USA; tel 502 852 1763; fax 502 852 1761; e-mail winoglue{at}aol.com.

Diploid/triploid mosaicism is an uncommon malformation syndrome thought to result from incorporation of the second polar body into a blastomere nucleus of the developing embryo. Clinical manifestations include mental and growth retardation, truncal obesity, body asymmetry, hypotonia, syndactyly, clino-/camptodactyly, malformed low-set ears, and small phallus. Although muscular atrophy has been documented in 35% of cases of diploid/triploid mosaicism, to our knowledge histologic evidence of myopathy has not been reported. We present a novel case of diploid/triploid mosaicism with evidence of central core disease and nemaline bodies (rods). The histologic and ultrastructural features are described. A review of the literature is provided, including discussion of the various theories regarding the co-expression of central cores and nemaline rods.

Keywords: diploid/triploid mosaicism, central core disease, nemaline bodies, congenital myopathy