Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle

Hirano bodies constitute eosinophilic intracytoplasmic inclusions, typicall y seen in the central nervous system, where they are related to senility an d certain dementias such as Alzheimer's disease or the Parkinson-dementia c omplex. They have been found in different tissues of experimental animals a nd, on rare occasions, in extraocular muscles of elderly individuals. Howev er, to our knowledge they have not been described in skeletal muscle in loc ations other than extraocular muscles or associated with muscle pathology. Glycogenosis TT or Pompe's disease, isa metabolic disorder caused by acid m altase deficiency and is characterized by glycogen accumulation in lysosome s in various tissues, including skeletal muscle. There are three clinical f orms depending on age at onset, the most frequent being the childhood form. We present the histopathological and ultrastructural findings of a muscle biopsy performed ill a case of the adult form of glycogenosis II which show ed, in addition to characteristic lysosomal glycogen storage, paracrystalli ne mitochondrial inclusions and, as an exceptional finding, intracytoplasmi c Hirano bodies in some muscle fibres. (C) 1999 Elsevier Science B.V. All r ights reserved.