title: Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism.
abstract: 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.
authors.affiliation: Department of Pathology, University of Louisville Hospital, 530 South Jackson St., Louisville, KY 40292, USA.
authors.forename: Nadiya Babar
authors.initials: NB
authors.lastname: Shafi
authors.forename: Joseph C
authors.initials: JC
authors.lastname: Parker
authors.forename: James B
authors.initials: JB
authors.lastname: Atkinson
authors.forename: John R
authors.initials: JR
authors.lastname: Parker
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D005260:Female; D006801:Humans; D009030:Mosaicism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009210:Myofibrils / Q000648:ultrastructure; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D020512:Myopathy, Central Core / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D011003:Ploidies; D013385:Succinate Dehydrogenase / Q000378:metabolism; D013577:Syndrome
chemical_list: D013385:Succinate Dehydrogenase; D000251:Adenosine Triphosphatases